The Database
Cancer gene panel database
4,953 genes curated across 9 NGS panels — each entry lists the panel(s) it belongs to, the associated cancer type, fusion or hereditary syndrome, and relevant targeted therapies where applicable. Search by gene symbol, panel, cancer type or drug.
How to use this: search for a gene symbol (e.g. “TP53”), a panel name (e.g. “HRD Pro”), a cancer type (e.g. “NSCLC”) or a drug (e.g. “Imatinib”) to filter the table below. This database supports our clinical cancer genomics testing menu — see that page for pricing, sample requirements and how to request a panel.
Gene
Panel(s)
Associated cancer / alteration
Targeted therapy
ABL1
PanCancer Pro, Hemato Pro, Fusion Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); CML (BCR-ABL1), B-ALL (Ph+), AML (rare); BCR-ABL1 , ABL1-BRD3 , ETV6- ABL1 , KMT2A-ABL1 , ABL1- NUP214 , SEPTIN9-ABL1 , SFPQ-ABL1LAML , BRCA , acute myelomonocytic leukemia , prolymphocytic leukemias , hematological neoplasmTCGA_RNA-Seq , mRNA_Sequence , Chimer — Known breakpoint exon(s): 1,2,3; Congenital heart defects and skeletal malformations syndrome; Leukemia, Philadelphia chromosome-positive, resistant to imatinib [OMIM 189980]
Imatinib, Dasatinib, Nilotinib, Bosutinib, Ponatinib, Asciminib (BCR-ABL1 TKIs)
ALK
PanCancer Pro, Heva Pro, Fusion Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; Hereditary cancer/cancer-syndrome association (evidence varies); ATIC-ALK , CARS-ALK , CLIP1- ALK , CLTC-ALK , DCTN1-ALK , EML4-ALK , FN1-ALK , HIP1- ALK , KIF5B-ALK , KLC1-ALK , KMT2A-ALK , MSN-ALK , NCOA1-ALK , NPM1-ALK , PPFIBP1-ALK , RANBP2-ALK , SEC31A-ALK , SQSTM1-ALK , STRN-ALK — Known breakpoint exon(s): 19,20; {Neuroblastoma, susceptibility to, 3} [OMIM 105590]
Alectinib, Brigatinib, Lorlatinib, Crizotinib (ALK inhibitors)
APC
PanCancer Pro, Heva Pro, IVF Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; Familial adenomatous polyposis (FAP); colorectal cancer; desmoid tumors High penetrance; colonoscopic/surgical management; Familial adenomatous polyposis (FAP) High cancer predisposition; Adenoma, periampullary, somatic; Adenomatous polyposis coli; Brain tumor- polyposis syndrome 2; Colorectal cancer, somatic; Desmoid disease, hereditary; Gardner syndrome; Gastric adenocarcinoma and proximal polyposis of the stomach; Gastric cancer, somatic; Hepatoblastoma, somatic [OMIM 611731]
No gene-specific approved therapy; germline testing informs FAP surveillance
ARID1A
PanCancer Pro, Hemato Pro, Fusion Pro, ClinEX Pro
Solid/hematologic tumors (context-dependent); DLBCL, FL; T-ALL (rare); ARID1A-ARID1A , ARID1A- MAST2 ChiTaRs , Cosmic — Known breakpoint exon(s): 1; Coffin-Siris syndrome 2 [OMIM 603024]
No approved ARID1A-directed therapy; informs clinical trial eligibility (ATR/PARP combinations under investigation)
ATM
PanCancer Pro, Hemato Pro, Heva Pro, HRD Pro, IVF Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; CLL, mantle cell lymphoma; therapy-related predisposition; Moderate -risk breast cancer; pancreatic (subset); ataxia-telangiectasia if biallelic Dose -sensitive to radiation; counsel on RT exposure; Breast (moderate risk); ataxia-telangiectasia if biallelic Radiation sensitivity considerations; HRR -related; Ataxia -telangiectasia Cancer predisposition; {Breast cancer, susceptibility to}; Ataxia-telangiectasia; Lymphoma, B-cell non-Hodgkin, somatic; Lymphoma, mantle cell, somatic; T-cell prolymphocytic leukemia, somatic [OMIM 607585]
PARP inhibitor sensitivity informed by HRD status (context-dependent)
ATR
PanCancer Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; ?Cutaneous telangiectasia and cancer syndrome, familial; Seckel syndrome 1 [OMIM 601215]
Informs HRD/PARP-inhibitor and ATR-inhibitor trial eligibility
ATRX
PanCancer Pro, Hemato Pro, ClinEX Pro
Solid/hematologic tumors (context-dependent); MDS/AML (rare), alpha-thalassemia X-linked syndromes; Alpha-thalassemia myelodysplasia syndrome, somatic; Alpha- thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked [OMIM 300032]
No gene-specific approved therapy; diagnostic/prognostic marker (ALT phenotype)
BARD1
PanCancer Pro, Heva Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Moderate -risk breast cancer (triple -negative enrichment) BRCA1 partner (BRCA1/BARD1 complex); Breast cancer (moderate; TNBC enrichment) BRCA1/BARD1 complex; {Breast cancer, susceptibility to} [OMIM 601593]
Informs HRD/PARP-inhibitor eligibility
BRAF
PanCancer Pro, Hemato Pro, Cardio Pro, Fusion Pro, ClinEX Pro
Solid tumors ± hematologic (tumor-type dependent); Hairy cell leukemia (V600E), Langerhans cell histiocytosis, Erdheim–Chester disease; RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; BRAF-BRAF , CEP89-BRAF , ETV6-BRAF , FAM131B-BRAF , FCHSD1-BRAF , GATM-BRAF , GNAI1-BRAF , HERPUD1-BRAF , KIAA1549-BRAF , LSM14A- BRAF , MKRN1-BRAF , RNF130-BRAF , SLC45A3- BRAF , SND1-BRAF , TMPRSS2- BRAF , TRIM24-BRAF — Known breakpoint exon(s): 7,8,9,10,11; Adenocarcinoma of lung, somatic; Cardiofaciocutaneous syndrome; Colorectal cancer, somatic; LEOPARD syndrome 3; Melanoma, malignant, somatic; Nonsmall cell lung cancer, somatic; Noonan syndrome 7 [OMIM 164757]
Dabrafenib + Trametinib, Vemurafenib + Cobimetinib, Encorafenib (BRAF V600-mutant)
BRIP1
PanCancer Pro, Neoscreen Pro, Heva Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Ovarian cancer (intermediate risk) HRR pathway; FA complementation group J (biallelic); biallelic: Fanconi anemia (FANCJ); {Breast cancer, early-onset, susceptibility to}; Fanconi anemia, complementation group J [OMIM 605882]
Informs HRD/PARP-inhibitor eligibility
CBL
PanCancer Pro, Hemato Pro, Cardio Pro, Fusion Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); JMML, MPN, CMML/aCML; RASopathy (Noonan -like) with CHD/vasculopathy RAS/MAPK pathway; CBL-CBL , KMT2A-CBL ChiTaRs , Cosmic — Known breakpoint exon(s): 10; ?Juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia [OMIM 165360]
No gene-specific approved therapy; WHO/ICC 2022 diagnostic driver
CDK12
PanCancer Pro, HRD Pro
Homologous recombination/DDR pathway alterations; Prostate cancer (HRR/“BRCAness” phenotype) (germline rare) Genomic instability; PARP/platinum sensitivity context (somatic)
Informs HRD/PARP-inhibitor eligibility
CDKN2A
PanCancer Pro, Hemato Pro, Heva Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; T-ALL/B-ALL (deletions), aggressive lymphomas; Familial cutaneous melanoma; pancreatic cancer risk p16INK4A/p14ARF locus; pancreatic screening per guidelines; {Melanoma and neural system tumor syndrome}; {Melanoma-pancreatic cancer syndrome}; {Melanoma, cutaneous malignant, 2} [OMIM 600160]
No gene-specific approved therapy; prognostic marker
CHEK2
PanCancer Pro, Hemato Pro, Heva Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; CLL/lymphoma (rare), cancer predisposition; Moderate -risk breast cancer; others (prostate/thyroid) variable DNA damage checkpoint; evidence/penetrance variant-dependent; prostate/thyroid variable DNA damage checkpoint; variant -dependent risk; {Breast and colorectal cancer, susceptibility to}; {Breast cancer, susceptibility to}; {Prostate cancer, familial, susceptibility to}; Li-Fraumeni syndrome; Osteosarcoma, somatic [OMIM 604373]
Informs HRD/PARP-inhibitor eligibility
CHEK1
PanCancer Pro, HRD Pro
Homologous recombination/DDR pathway alterations; Cancer predisposition (evidence limited) Checkpoint kinase; limited clinical actionability
Informs HRD/PARP-inhibitor and CHK1-inhibitor trial eligibility
CSF3R
PanCancer Pro, Hemato Pro, Neoscreen Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); Chronic neutrophilic leukemia, aCML; AML in SCN; Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Neutropenia, severe congenital, 7, autosomal recessive [OMIM 138971]
Ruxolitinib (JAK inhibitor context in CSF3R-mutant CNL)
CTNNB1
PanCancer Pro, Heva Pro, Fusion Pro, ClinEX Pro
Solid tumors (HCC, desmoid, endometrial); Neurodevelopmental disorder (germline); cancer predisposition uncertain Somatic CTNNB1 common in hepatoblastoma/others; germline actionability limited; CTNNB1-PLAG1 , TBL1XR1- CTNNB1 OVCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 2; Colorectal cancer, somatic; Exudative vitreoretinopathy 7; Hepatocellular carcinoma, somatic; Medulloblastoma, somatic; Neurodevelopmental disorder with spastic diplegia and visual defects; Ovarian cancer, somatic; Pilomatricoma, somatic [OMIM 116806]
No gene-specific approved therapy; informs WNT-pathway trial eligibility
DNMT3A
PanCancer Pro, Hemato Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); AML, MDS, CMML, clonal hematopoiesis; Acute myeloid leukemia, somatic; Heyn-Sproul-Jackson syndrome; Tatton- Brown-Rahman syndrome [OMIM 602769]
No gene-specific approved therapy; clonal hematopoiesis / AML risk marker
FANCA
PanCancer Pro, Hemato Pro, Neoscreen Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Fanconi anemia; AML predisposition; Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia, complementation group A [OMIM 607139]
Informs HRD/PARP-inhibitor eligibility
FANCL
PanCancer Pro, Hemato Pro, Neoscreen Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Fanconi anemia; AML predisposition; Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia (biallelic); heterozygote cancer risk uncertain/low E3 ligase subunit in FA core complex; Fanconi anemia, complementation group L [OMIM 608111]
Informs HRD/PARP-inhibitor eligibility
FBXW7
PanCancer Pro, Hemato Pro
Somatic cancer driver/biomarker (tumor-type dependent); T-ALL; CLL
No gene-specific approved therapy; prognostic/biomarker use
EML4
PanCancer Pro, Fusion Pro
Fusion partner (EML4–ALK in NSCLC); EML4-NTRK3 , TMPRSS2- EML4 PAAD , PRAD TCGA_RNA-Seq
Targeted via ALK inhibitors when EML4-ALK fusion present (see ALK)
FGFR1
PanCancer Pro, Fusion Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; FGFR1-FGFR1 , FN1-FGFR1 , FGFR1-PLAG1 , RANBP2- FGFR1 , FGFR1-TACC1 , TPR- FGFR1 , TRIM24-FGFR1 , FGFR1-ZNF703mesenchymal tumor, hypophosphatemias, familial(phosphaturia), neoplasm , myeloproliferative neoplasm, myelodys — Known breakpoint exon(s): 1,2,14,17; Encephalocraniocutaneous lipomatosis, somatic mosaic; Hartsfield syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome; Trigonocephaly 1 [OMIM 136350]
Erdafitinib, Pemigatinib (FGFR inhibitors, alteration-dependent)
FGFR2
PanCancer Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Apert syndrome; Beare-Stevenson cutis gyrata syndrome; Bent bone dysplasia syndrome; Craniofacial-skeletal- dermatologic dysplasia; Craniosynostosis, nonspecific; Crouzon syndrome; Gastric cancer, somatic; Jackson-Weiss syndrome; LADD syndrome; Pfeiffer syndrome; Saethre-Chotzen syndrome; Scaphocephaly and Axenfeld-Rieger anomaly; Scaphocephaly, maxillary retrusion, and mental retardation [OMIM 176943]
Erdafitinib, Pemigatinib, Futibatinib (FGFR inhibitors)
FGFR3
PanCancer Pro, Fusion Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; FGFR3-MLLT10 , RET-FGFR3 , FGFR3-TACC3 OV , STAD , KIRP TCGA_RNA-Seq — Known breakpoint exon(s): 17; Achondroplasia; Bladder cancer, somatic; CATSHL syndrome; Cervical cancer, somatic; Colorectal cancer, somatic; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia; LADD syndrome; Muenke syndrome; Nevus, epidermal, somatic; SADDAN; Spermatocytic seminoma, somatic; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II [OMIM 134934]
Erdafitinib (FGFR inhibitor)
FLT3
PanCancer Pro, Hemato Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); AML (ITD/TKD); Leukemia, acute lymphoblastic, somatic; Leukemia, acute myeloid, reduced survival in, somatic; Leukemia, acute myeloid, somatic [OMIM 136351]
Midostaurin, Gilteritinib (FLT3 inhibitors)
HRAS
PanCancer Pro, Hemato Pro, Cardio Pro, Heva Pro, ClinEX Pro
Solid tumors ± hematologic (tumor-type dependent); JMML/CMML; AML (rare); RASopathy (Costello syndrome) with HCM/arrhythmia Syndromic; Costello syndrome tumor predisposition Embryonal rhabdomyosarcoma/neuroblastoma risk; RASopathy; Bladder cancer, somatic; Congenital myopathy with excess of muscle spindles; Costello syndrome; Nevus sebaceous or woolly hair nevus, somatic; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Spitz nevus or nevus spilus, somatic; Thyroid carcinoma, follicular, somatic [OMIM 190020]
Tipifarnib (investigational/limited approval settings); MAPK pathway context
IDH1
PanCancer Pro, Hemato Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); AML, MDS, CMML; {Glioma, susceptibility to, somatic} [OMIM 147700]
Ivosidenib (IDH1 inhibitor)
IDH2
PanCancer Pro, Hemato Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); AML, MDS, CMML; D-2-hydroxyglutaric aciduria 2 [OMIM 147650]
Enasidenib (IDH2 inhibitor)
JAK2
PanCancer Pro, Hemato Pro, Fusion Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); MPN (PV, ET, PMF); JAK2-JAK2 , JAK2-PAX5 , PCM1-JAK2 , SEC31A-JAK2 , SSBP2-JAK2 , TCF3-JAK2 , TPM3-JAK2LGG , acute lymphoblastic leukemia(ALL)ChiTaRs , Cosmic , TCGA_RNA-Seq , ChimerPub-Plus; {Budd-Chiari syndrome, somatic}; Erythrocytosis, somatic; Leukemia, acute myeloid, somatic; Myelofibrosis, somatic; Polycythemia vera, somatic; Thrombocythemia 3 [OMIM 147796]
Ruxolitinib, Fedratinib, Pacritinib (JAK inhibitors)
JAK3
PanCancer Pro, Hemato Pro, Neoscreen Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); T-ALL/NK-cell leukemia; SCID (T−B+NK−); SCID, autosomal recessive, T-negative/B-positive type [OMIM 600173]
JAK-family inhibitor context (Ruxolitinib class); no JAK3-specific approval
KIT
PanCancer Pro, Hemato Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); AML (core-binding factor AML), systemic mastocytosis; Gastrointestinal stromal tumor, familial; Germ cell tumors, somatic; Leukemia, acute myeloid, somatic; Mastocytosis, cutaneous; Mastocytosis, systemic, somatic; Piebaldism [OMIM 164920]
Imatinib, Sunitinib, Regorafenib, Avapritinib (KIT inhibitors, context-dependent); Imatinib, Avapritinib (KIT inhibitors; core-binding factor AML, mastocytosis)
KMT2A
PanCancer Pro, Hemato Pro, Fusion Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); AML and ALL (rearranged KMT2A/MLL); KMT2A-KNL1 , LASP1-KMT2A , LPP-KMT2A , KMT2A- MAML2 , MAPRE1-KMT2A , KMT2A-MLLT1 , KMT2A- MLLT10 , KMT2A-MLLT11 , KMT2A-MLLT3 , KMT2A- MLLT6 , KMT2A-NCKIPSD , KMT2A-PDS5A , KMT2A- PICALM , KMT2A-RARA , KMT2A-SARNP , KMT2; Wiedemann-Steiner syndrome [OMIM 159555]
No gene-specific approved therapy; AML/ALL-defining rearrangement (menin inhibitors emerging)
MAP2K1
PanCancer Pro, Hemato Pro, Cardio Pro, ClinEX Pro
Solid tumors ± hematologic (tumor-type dependent); Langerhans cell histiocytosis; histiocytic neoplasms; RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Cardiofaciocutaneous syndrome 3; Melorheostosis, isolated, somatic mosaic [OMIM 176872]
MEK inhibitors (Trametinib, Cobimetinib) in BRAF/MAPK-altered contexts
MLH1
PanCancer Pro, Heva Pro, HRD Pro, ClinEX Pro
Mismatch repair deficiency (Lynch phenotype); Lynch syndrome (MMR deficiency) MSI-H/dMMR; ICI sensitivity; colonoscopic/gynecologic surveillance; Lynch syndrome (dMMR/MSI -H) Colonoscopic/GYN surveillance; immunotherapy sensitivity when dMMR; Colorectal cancer, hereditary nonpolyposis, type 2; Mismatch repair cancer syndrome 1; Muir-Torre syndrome [OMIM 120436]
Pembrolizumab, Dostarlimab (immune checkpoint inhibitors, MSI-H/dMMR)
MSH6
PanCancer Pro, Heva Pro, HRD Pro, ClinEX Pro
Mismatch repair deficiency (Lynch phenotype); Lynch syndrome (MMR deficiency) MSI-H/dMMR; later -onset CRC/EC risk; Lynch syndrome (dMMR/MSI -H; later onset vs MLH1/MSH2) Lower penetrance; tailored surveillance; {Endometrial cancer, familial}; Colorectal cancer, hereditary nonpolyposis, type 5; Mismatch repair cancer syndrome 3 [OMIM 600678]
Pembrolizumab, Dostarlimab (immune checkpoint inhibitors, MSI-H/dMMR)
NRAS
PanCancer Pro, Hemato Pro, Cardio Pro, ClinEX Pro
Solid tumors ± hematologic (tumor-type dependent); AML, CMML, JMML; ALL; RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic; Colorectal cancer, somatic; Epidermal nevus, somatic; Melanocytic nevus syndrome, congenital, somatic; Neurocutaneous melanosis, somatic; Noonan syndrome 6; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Thyroid carcinoma, follicular, somatic [OMIM 164790]
No approved NRAS-directed inhibitor; informs anti-EGFR therapy exclusion (colorectal)
PALB2
PanCancer Pro, Heva Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Hereditary breast cancer; pancreatic (subset) HRR pathway partner of BRCA2; PARP sensitivity; biallelic: Fanconi anemia (FANCN); pancreatic (subset) BRCA2 partner (HRR); {Breast cancer, susceptibility to}; {Pancreatic cancer, susceptibility to, 3}; Fanconi anemia, complementation group N [OMIM 610355]
PARP inhibitor sensitivity informed by HRD status (context-dependent)
PIK3CA
PanCancer Pro, Heva Pro, ClinEX Pro
Solid tumors (breast, endometrial, others); PIK3CA -related overgrowth spectrum (PROS) (mosaic) Cancer predisposition not clearly increased; somatic driver in many tumors; Breast cancer, somatic; CLAPO syndrome, somatic; CLOVE syndrome, somatic; Colorectal cancer, somatic; Cowden syndrome 5; Gastric cancer, somatic; Hepatocellular carcinoma, somatic; Keratosis, seborrheic, somatic; Macrodactyly, somatic; Megalencephaly-capillary malformation- polymicrogyria syndrome, somatic; Nevus, epidermal, somatic; Nonsmall cell lung cancer, somatic; Ovarian cancer, somatic [OMIM 171834]
Alpelisib (in combination with endocrine therapy, breast cancer)
PTEN
PanCancer Pro, Hemato Pro, Heva Pro, HRD Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; T-ALL; DLBCL; PTEN hamartoma tumor syndrome (Cowden) Breast, thyroid (follicular), endometrial; melanoma, RCC; macrocephaly; melanoma/RCC risk; {Glioma susceptibility 2}; {Meningioma}; Cowden syndrome 1; Lhermitte- Duclos syndrome; Macrocephaly/autism syndrome; Prostate cancer, somatic [OMIM 601728]
Informs PI3K/AKT pathway inhibitor eligibility (e.g. capivasertib combinations)
RAD51B
PanCancer Pro, HRD Pro, Fusion Pro
Homologous recombination/DDR pathway alterations; Breast cancer (low -to-moderate risk) HRR pathway; evidence moderate; RAD51B-RAD51B ChiTaRs — Known breakpoint exon(s): 7,8
Informs HRD/PARP-inhibitor eligibility
RAD51C
PanCancer Pro, Heva Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Ovarian cancer risk HRR pathway; FANCO (biallelic); PARP sensitivity context; Ovarian cancer predisposition; breast (moderate) HRR pathway; biallelic: Fanconi anemia (FANCO); {Breast-ovarian cancer, familial, susceptibility to, 3}; Fanconi anemia, complementation group O [OMIM 602774]
Informs HRD/PARP-inhibitor eligibility
RAD51D
PanCancer Pro, Heva Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Ovarian cancer risk HRR pathway; PARP sensitivity context; Ovarian cancer predisposition HRR pathway; {Breast-ovarian cancer, familial, susceptibility to, 4} [OMIM 602954]
Informs HRD/PARP-inhibitor eligibility
RAD54L
PanCancer Pro, HRD Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Hereditary cancer predisposition (evidence limited) HRR/DSB repair; limited clinical actionability; {Breast cancer, invasive ductal}; Adenocarcinoma, colonic, somatic; Lymphoma, non-Hodgkin, somatic [OMIM 603615]
Informs HRD/PARP-inhibitor eligibility
RB1
PanCancer Pro, Hemato Pro, Neoscreen Pro, Heva Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; CLL (rare), aggressive B-cell lymphoma (rare); Retinoblastoma predisposition; Hereditary retinoblastoma; sarcoma risk High childhood penetrance; lifelong sarcoma risk; Bladder cancer, somatic; Osteosarcoma, somatic; Retinoblastoma; Retinoblastoma, trilateral; Small cell cancer of the lung, somatic [OMIM 614041]
No gene-specific approved therapy; prognostic marker
RET
PanCancer Pro, Neoscreen Pro, Heva Pro, Fusion Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; MEN2 / Hirschsprung disease; MEN2A/MEN2B; medullary thyroid carcinoma, pheochromocytoma, parathyroid Prophylactic thyroidectomy per variant -specific risk; TBL1XR1-RET , TRIM24-RET , TRIM27-RET , TRIM33-RET THCA , LUADTCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 8,11,12; {Hirschsprung disease, protection against}; {Hirschsprung disease, susceptibility to, 1}; Central hypoventilation syndrome, congenital; Medullary thyroid carcinoma; Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB; Pheochromocytoma [OMIM 164761]
Selpercatinib, Pralsetinib (RET inhibitors)
ROS1
PanCancer Pro, Fusion Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; SDC4-ROS1 , SHTN1-ROS1 , SLC34A2-ROS1 , TFG-ROS1 , TPM3-ROS1 , ZCCHC8-ROS1LUAD , inflammatory myofibroblastic tumor(IMT), anaplastic lymphoma , benign melanocytic nevusCosmic , TCGA_RNA-Seq , ChimerPub-Plus — Known breakpoint exon(s): 32,34,35,36
Entrectinib, Crizotinib, Repotrectinib (ROS1 inhibitors)
TET2
PanCancer Pro, Hemato Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); MDS, CMML, MPN; clonal hematopoiesis; Immunodeficiency 75; Myelodysplastic syndrome, somatic [OMIM 612839]
No gene-specific approved therapy; clonal hematopoiesis marker
TP53
PanCancer Pro, Hemato Pro, Neoscreen Pro, Heva Pro, HRD Pro, Fusion Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; Therapy-related MDS/AML; complex karyotype AML; CLL (poor-risk); Li–Fraumeni syndrome; Li-Fraumeni syndrome (sarcoma, breast, brain, adrenocortical, leukemia) High penetrance; whole -body MRI; avoid therapeutic radiation when possible; Li-Fraumeni syndrome High penetrance; minimize therapeutic radiation; tumor protein p53 [Source:HGNC Symbol; Acc:11998] — Known breakpoint exon(s): 8,9,10,11; {Adrenocortical carcinoma, pediatric}; {Basal cell carcinoma 7}; {Choroid plexus papilloma}; {Colorectal cancer}; {Glioma susceptibility 1}; {Osteosarcoma}; Bone marrow failure syndrome 5; Breast cancer, somatic; Hepatocellular carcinoma, somatic; Li-Fraumeni syndrome; Nasopharyngeal carcinoma, somatic; Pancreatic cancer, somatic [OMIM 191170]
No gene-specific approved therapy; prognostic marker across tumor types; poor-risk marker across AML/MDS/CLL
VHL
PanCancer Pro, IVF Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; Von Hippel -Lindau disease Multiple tumor predisposition; Erythrocytosis, familial, 2; Hemangioblastoma, cerebellar, somatic; Pheochromocytoma; Renal cell carcinoma, somatic; von Hippel- Lindau syndrome [OMIM 608537]
Belzutifan (HIF-2alpha inhibitor, VHL-associated tumors)
BRCA1
PanCancer Pro, Heva Pro, HRD Pro, IVF Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Hereditary breast and ovarian cancer (HBOC); pancreatic (subset) HRR pathway; PARP inhibitor sensitivity; biallelic: FA -like phenotype; biallelic: Fanconi anemia –like; Hereditary breast and ovarian cancer High cancer predisposition; {Breast-ovarian cancer, familial, 1}; {Pancreatic cancer, susceptibility to, 4}; Fanconi anemia, complementation group S [OMIM 113705]
Olaparib, Talazoparib, Niraparib, Rucaparib (PARP inhibitors)
BRCA2
PanCancer Pro, Neoscreen Pro, Heva Pro, HRD Pro, IVF Pro, ClinEX Pro
Homologous recombination/DDR pathway alterations; Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Hereditary breast/ovarian cancer; prostate; pancreatic HRR pathway; PARP inhibitor sensitivity; biallelic: Fanconi anemia (FANCD1); Hereditary breast/ovarian; Hereditary breast and ovarian cancer High cancer predisposition; {Breast cancer, male, susceptibility to}; {Breast-ovarian cancer, familial, 2}; {Glioblastoma 3}; {Medulloblastoma}; {Pancreatic cancer 2}; {Prostate cancer}; Fanconi anemia, complementation group D1; Wilms tumor [OMIM 600185]
Olaparib, Talazoparib, Niraparib, Rucaparib (PARP inhibitors)
ERBB2
PanCancer Pro, Heva Pro, ClinEX Pro
Breast/gastric/others (HER2-positive); Familial breast cancer (rare; evidence limited) Somatic driver in breast/gastric cancers; germline predisposition uncommon; Adenocarcinoma of lung, somatic; Gastric cancer, somatic; Glioblastoma, somatic; Ovarian cancer, somatic [OMIM 164870]
Trastuzumab, Pertuzumab, Trastuzumab emtansine, Trastuzumab deruxtecan (anti-HER2 agents)
MET
PanCancer Pro, Hemato Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; Myeloid neoplasms (rare); ?Deafness, autosomal recessive 97; {Osteofibrous dysplasia, susceptibility to}; Hepatocellular carcinoma, childhood type, somatic; Renal cell carcinoma, papillary, 1, familial and somatic [OMIM 164860]
Capmatinib, Tepotinib (MET exon 14 skipping inhibitors)
NTRK1
PanCancer Pro, Fusion Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; PRCC-NTRK1 , SQSTM1- NTRK1 , SSBP2-NTRK1 , TFG- NTRK1 , TP53-NTRK1 , TPM3- NTRK1 , TPM4-NTRK1 , TPR- NTRK1 LUAD , THCA , SARCTCGA_RNA-Seq , Cosmic , mRNA_Sequence — Known breakpoint exon(s): 9,10,12; Insensitivity to pain, congenital, with anhidrosis [OMIM 191315]
Larotrectinib, Entrectinib (TRK inhibitors)
NTRK2
PanCancer Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; Developmental and epileptic encephalopathy 58; Obesity, hyperphagia, and developmental delay [OMIM 600456]
Larotrectinib, Entrectinib (TRK inhibitors)
NTRK3
PanCancer Pro, Fusion Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; NTRK3-NTRK3 , SQSTM1- NTRK3 sipple syndromeChiTaRs , ChimerPub-Plus — Known breakpoint exon(s): 14,15
Larotrectinib, Entrectinib (TRK inhibitors)
KRAS
PanCancer Pro, Hemato Pro, Cardio Pro, Heva Pro, Fusion Pro, ClinEX Pro
Solid tumors ± hematologic (tumor-type dependent); AML, CMML, JMML; B-ALL (rare); RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan spectrum disorder (RASopathy) Germline cancer risk not clearly established; somatic driver widely; UBE2L3-KRAS Cosmic — Known breakpoint exon(s): 2; Arteriovenous malformation of the brain, somatic; Bladder cancer, somatic; Breast cancer, somatic; Cardiofaciocutaneous syndrome 2; Gastric cancer, somatic; Leukemia, acute myeloid, somatic; Lung cancer, somatic; Noonan syndrome 3; Oculoectodermal syndrome, somatic; Pancreatic carcinoma, somatic; RAS-associated autoimmune leukoproliferative disorder; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic [OMIM 190070]
Sotorasib, Adagrasib (KRAS G12C-specific); otherwise no direct inhibitor
EGFR
PanCancer Pro, Heva Pro, ClinEX Pro
Solid tumors (esp. NSCLC/others) — actionable alterations; Familial lung adenocarcinoma (germline EGFR, e.g., T790M) (rare) High penetrance in smoking-independent families; ?Inflammatory skin and bowel disease, neonatal, 2; {Nonsmall cell lung cancer, susceptibility to}; Adenocarcinoma of lung, response to tyrosine kinase inhibitor in; Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in [OMIM 131550]
Osimertinib, Erlotinib, Gefitinib, Afatinib, Dacomitinib (EGFR TKIs)
CD274
PanCancer Pro
Tumor immune evasion (PD-L1 overexpression)
Pembrolizumab, Atezolizumab, Nivolumab and other PD-(L)1 inhibitors (IHC/PD-L1 biomarker-guided)
NOTCH1
PanCancer Pro, Hemato Pro, Cardio Pro, ClinEX Pro
Solid/hematologic tumors (context-dependent); T-ALL; CLL (activation); Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Adams-Oliver syndrome 5; Aortic valve disease 1 [OMIM 190198]
No approved NOTCH-directed therapy widely available; clinical trial context
NOTCH2
PanCancer Pro, Hemato Pro, ClinEX Pro
Solid/hematologic tumors (context-dependent); Splenic marginal zone lymphoma; DLBCL (ABC); Alagille syndrome 2; Hajdu-Cheney syndrome [OMIM 600275]
No approved NOTCH-directed therapy widely available; clinical trial context
NOTCH3
PanCancer Pro, ClinEX Pro
Solid/hematologic tumors (context-dependent); ?Myofibromatosis, infantile 2; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; Lateral meningocele syndrome [OMIM 600276]
No approved NOTCH-directed therapy widely available; clinical trial context
NOTCH4
PanCancer Pro
Solid/hematologic tumors (context-dependent)
No approved NOTCH-directed therapy widely available; clinical trial context
AKT1
PanCancer Pro, ClinEX Pro
Solid tumors (breast, endometrial, others); Breast cancer, somatic; Colorectal cancer, somatic; Cowden syndrome 6; Ovarian cancer, somatic; Proteus syndrome, somatic [OMIM 164730]
Capivasertib (AKT inhibitor, in combination with endocrine therapy)
TSHR
PanCancer Pro, Neoscreen Pro, ClinEX Pro
Thyroid neoplasia; Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Hyperthyroidism, familial gestational; Hyperthyroidism, nonautoimmune; Hypothyroidism, congenital, nongoitrous, 1; Thyroid adenoma, hyperfunctioning, somatic; Thyroid carcinoma with thyrotoxicosis [OMIM 603372]
No gene-specific approved therapy; diagnostic marker (thyroid neoplasia)
TERT
PanCancer Pro, Hemato Pro, ClinEX Pro
Multiple tumors (promoter mutations common); Telomere biology disorder; aplastic anemia; MDS predisposition; {Dyskeratosis congenita, autosomal dominant 2}; {Dyskeratosis congenita, autosomal recessive 4}; {Leukemia, acute myeloid}; {Melanoma, cutaneous malignant, 9}; {Pulmonary fibrosis and/or bone marrow failure, telomere- related, 1} [OMIM 187270]
No gene-specific approved therapy; prognostic marker (promoter mutations)
CDH1
PanCancer Pro, Heva Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; Hereditary diffuse gastric cancer; lobular breast cancer Prophylactic gastrectomy considered by guidelines; {Breast cancer, lobular}; {Prostate cancer, susceptibility to}; Blepharocheilodontic syndrome 1; Endometrial carcinoma, somatic; Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate; Ovarian cancer, somatic [OMIM 192090]
No gene-specific approved therapy; germline testing informs HDGC surveillance
CSF1R
PanCancer Pro, ClinEX Pro
Somatic cancer driver/biomarker (tumor-type dependent); Brain abnormalities, neurodegeneration, and dysosteosclerosis; Leukoencephalopathy, diffuse hereditary, with spheroids [OMIM 164770]
Pexidartinib (CSF1R inhibitor, tenosynovial giant cell tumor)
DDR2
PanCancer Pro, ClinEX Pro
NSCLC (squamous) and others (rare); Spondylometaepiphyseal dysplasia, short limb-hand type; Warburg-Cinotti syndrome [OMIM 191311]
Dasatinib (limited/reported sensitivity, squamous NSCLC)
ERBB4
PanCancer Pro, Fusion Pro, ClinEX Pro
Solid tumors (subset); NFIB-ERBB4 ChiTaRs — Known breakpoint exon(s): 18; Amyotrophic lateral sclerosis 19 [OMIM 600543]
No approved ERBB4-specific therapy; limited actionable context
EZH2
PanCancer Pro, Hemato Pro, ClinEX Pro
Solid/hematologic tumors (context-dependent); PMF/MPN; DLBCL/FL; Weaver syndrome [OMIM 601573]
Tazemetostat (EZH2 inhibitor; follicular lymphoma, epithelioid sarcoma)
FOXL2
PanCancer Pro, ClinEX Pro
Adult granulosa cell tumor (pathognomonic c.402C>G p.C134W); Blepharophimosis, epicanthus inversus, and ptosis, type 1; Blepharophimosis, epicanthus inversus, and ptosis, type 2; Premature ovarian failure 3 [OMIM 605597]
No gene-specific approved therapy; diagnostic marker (granulosa cell tumor)
GNA11
PanCancer Pro, ClinEX Pro
Uveal melanoma and others; Hypocalcemia, autosomal dominant 2; Hypocalciuric hypercalcemia, type II [OMIM 139313]
Tebentafusp (HLA-A*02:01-restricted, metastatic uveal melanoma)
GNAQ
PanCancer Pro, ClinEX Pro
Uveal melanoma and others; Capillary malformations, congenital, 1, somatic, mosaic; Sturge-Weber syndrome, somatic, mosaic [OMIM 600998]
Tebentafusp (HLA-A*02:01-restricted, metastatic uveal melanoma)
GNAS
PanCancer Pro, Hemato Pro, ClinEX Pro
Endocrine/gi neoplasms (IPMN, pituitary) and others; Myeloid neoplasms (rare); ACTH-independent macronodular adrenal hyperplasia; McCune-Albright syndrome, somatic, mosaic; Osseous heteroplasia, progressive; Pituitary adenoma 3, multiple types, somatic; Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism [OMIM 139320]
No gene-specific approved therapy; diagnostic marker (cAMP/PKA pathway)
HNF1A
PanCancer Pro, Neoscreen Pro, ClinEX Pro
Hepatocellular adenoma (H-HCA); MODY3 Sulfonylurea sensitivity; {Diabetes mellitus, insulin-dependent}; {Diabetes mellitus, noninsulin- dependent, 2}; Diabetes mellitus, insulin-dependent, 20; Hepatic adenoma, somatic; MODY, type III; Renal cell carcinoma [OMIM 142410]
No gene-specific approved therapy; diagnostic subtype marker (hepatocellular adenoma)
KDR
PanCancer Pro, ClinEX Pro
Angiogenesis/VEGFR2 pathway; {Hemangioma, capillary infantile, susceptibility to}; Hemangioma, capillary infantile, somatic [OMIM 191306]
Ramucirumab, Regorafenib, other anti-angiogenic agents (VEGFR2 pathway)
NPM1
PanCancer Pro, Hemato Pro, Fusion Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); AML (NPM1-mutated); NPM1-RARA acute promyelocytic leukemiaMitelman,OMIM, GenBank — Known breakpoint exon(s): 5; Leukemia, acute myeloid, somatic [OMIM 164040]
No gene-specific approved therapy; AML-defining marker guiding venetoclax-based regimens; guides venetoclax-based regimen selection
PDGFRA
PanCancer Pro, Hemato Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); Myeloid/lymphoid neoplasms with eosinophilia (FIP1L1– PDGFRA); Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial; Hypereosinophilic syndrome, idiopathic, resistant to imatinib [OMIM 173490]
Imatinib, Avapritinib (PDGFRA inhibitors; exon-dependent); Imatinib (PDGFRA-rearranged myeloid/lymphoid neoplasms with eosinophilia)
PTPN11
PanCancer Pro, Hemato Pro, Cardio Pro, ClinEX Pro
Myeloid neoplasms (AML/MDS/MPN spectrum); JMML; AML; Noonan syndrome–associated leukemia; RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; LEOPARD syndrome 1; Leukemia, juvenile myelomonocytic, somatic; Metachondromatosis; Noonan syndrome 1 [OMIM 176876]
No gene-specific approved therapy; informs RASopathy / JMML risk assessment
STK11
PanCancer Pro, Heva Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; Peutz–Jeghers syndrome GI polyps; pancreatic, GI, GYN cancers; mucocutaneous pigmentation; Melanoma, malignant, somatic; Pancreatic cancer, somatic; Peutz-Jeghers syndrome; Testicular tumor, somatic [OMIM 602216]
No approved STK11-directed therapy; co-mutation status affects immunotherapy response prediction (NSCLC)
SMAD4
PanCancer Pro, Cardio Pro, Heva Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Juvenile polyposis ± HHT overlap Consider HHT screening if SMAD4; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal [OMIM 600993]
No gene-specific approved therapy; prognostic marker
SMARCB1
PanCancer Pro, Heva Pro, ClinEX Pro
Tumor suppressor — multiple solid tumors; Rhabdoid tumor predisposition / Schwannomatosis INI1/BAF core complex; high -risk embryonal tumors; {Rhabdoid tumor predisposition syndrome 1}; {Schwannomatosis-1, susceptibility to}; Coffin-Siris syndrome 3; Rhabdoid tumors, somatic [OMIM 601607]
No gene-specific approved therapy; diagnostic marker (rhabdoid tumors)
SMO
PanCancer Pro, ClinEX Pro
Basal cell carcinoma and others (Hedgehog pathway); Basal cell carcinoma, somatic; Curry-Jones syndrome, somatic mosaic; Pallister-Hall-like syndrome [OMIM 601500]
Vismodegib, Sonidegib (Hedgehog pathway inhibitors)
SRC
PanCancer Pro, ClinEX Pro
Solid tumors (invasion/metastasis pathways); ?Thrombocytopenia 6; Colon cancer, advanced, somatic [OMIM 190090]
No approved SRC-specific therapy; limited actionable context
TSC1
PanCancer Pro, Neoscreen Pro, ClinEX Pro
Solid tumors (breast, endometrial, others); Tuberous sclerosis complex; Focal cortical dysplasia, type II, somatic; Lymphangioleiomyomatosis; Tuberous sclerosis-1 [OMIM 605284]
Everolimus, Sirolimus (mTOR inhibitors)
POLE
PanCancer Pro, ClinEX Pro
Polymerase proofreading– mutated ultramutated tumors; {Colorectal cancer, susceptibility to, 12}; FILS syndrome; IMAGE-I syndrome [OMIM 174762]
Immune checkpoint inhibitors favored given high TMB (ultramutated phenotype)
ANKRD26
Hemato Pro, ClinEX Pro
Inherited thrombocytopenia with predisposition to MDS/AML; Thrombocytopenia 2 [OMIM 610855]
Germline predisposition syndrome
ASXL1
Hemato Pro, ClinEX Pro
MDS, CMML, AML, MPN (esp. PMF); Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic [OMIM 612990]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
ASXL2
Hemato Pro, ClinEX Pro
Myeloid neoplasms (rare), clonal hematopoiesis; Shashi-Pena syndrome [OMIM 612991]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
BCOR
Hemato Pro, Fusion Pro, ClinEX Pro
MDS, AML, clonal cytopenias; EP300-BCOR , BCOR-RARA , ZC3H7B-BCORLGG , acute promyelocytic leukemiaTCGA_RNA-Seq , ChimerPub-Plus , Cosmic — Known breakpoint exon(s): 7; Microphthalmia, syndromic 2 [OMIM 300485]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
BCORL1
Hemato Pro, ClinEX Pro
MDS/AML (esp. de novo AML), clonal cytopenias; Shukla-Vernon syndrome [OMIM 300688]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
BRCC3
Hemato Pro
Myeloid neoplasms (rare)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CALR
Hemato Pro, ClinEX Pro
MPN (ET, PMF); Myelofibrosis, somatic; Thrombocythemia, somatic [OMIM 109091]
Ruxolitinib (JAK inhibitor used in CALR-mutant MPN)
CBLB
Hemato Pro
T-cell neoplasms (rare)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CBLC
Hemato Pro
Myeloid neoplasms (rare)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CCND2
Hemato Pro, ClinEX Pro
AML (KMT2A/CBF subsets), B-ALL; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 [OMIM 123833]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CEBPA
Hemato Pro, ClinEX Pro
AML (biallelic CEBPA), familial AML predisposition; ?Leukemia, acute myeloid; Leukemia, acute myeloid, somatic [OMIM 116897]
No gene-specific approved therapy; favorable-risk AML marker
CREBBP
Hemato Pro, Fusion Pro, ClinEX Pro
DLBCL, follicular lymphoma; B-ALL; CREBBP-GLIS2 , KMT2A- CREBBP , CREBBP-ZNF384OV , acute lymphoblastic leukemiaTCGA_RNA-Seq , Cosmic , ChimerPub-Plus — Known breakpoint exon(s): 2,3,16; Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome 1 [OMIM 600140]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CSMD1
Hemato Pro
CLL/DLBCL (rare)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CSNK1A1
Hemato Pro
MDS with del(5q)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CTCF
Hemato Pro, ClinEX Pro
MDS/AML (rare), clonal cytopenias; Mental retardation, autosomal dominant 21 [OMIM 604167]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CUX1
Hemato Pro, ClinEX Pro
MDS/AML (7q alterations); Global developmental delay with or without impaired intellectual development [OMIM 116896]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
DDX41
Hemato Pro, ClinEX Pro
MDS/AML predisposition (germline & somatic); {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} [OMIM 608170]
Germline predisposition syndrome
DHX15
Hemato Pro
MDS/AML (rare)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
ELANE
Hemato Pro, Neoscreen Pro, IVF Pro, ClinEX Pro
Severe congenital neutropenia; AML predisposition; Severe congenital neutropenia G-CSF; HSCT in refractory cases; Severe congenital neutropenia Autosomal dominant; Neutropenia, cyclic; Neutropenia, severe congenital 1, autosomal dominant [OMIM 130130]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
ETNK1
Hemato Pro
aCML and MDS/MPN overlap
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
ETV6
Hemato Pro, Fusion Pro, ClinEX Pro
B-ALL, AML; thrombocytopenia with leukemia predisposition; ETV6-FGFR3 , HNRNPA2B1- ETV6 , ETV6-ITPR2 , ETV6- JAK2 , ETV6-MIA2 , MN1- ETV6 , ETV6-NTRK3 , PAX5- ETV6 , ETV6-PDGFRB , ETV6- RET , ETV6-RUNX1BRCA , acute myeloid leukemia , SKCM , lymphoblastic leukemia , salivary glan — Known breakpoint exon(s): 2,3,4,5,6,7; Leukemia, acute myeloid, somatic; Thrombocytopenia 5 [OMIM 600618]
Germline predisposition syndrome
GATA1
Hemato Pro, Neoscreen Pro, ClinEX Pro
Transient abnormal myelopoiesis & ML-DS (Down syndrome–associated AML); Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Leukemia, megakaryoblastic, with or without Down syndrome, somatic; Thrombocytopenia with beta-thalassemia, X- linked; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [OMIM 305371]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
GATA2
Hemato Pro, ClinEX Pro
MonoMAC; MDS/AML predisposition, immunodeficiency; {Leukemia, acute myeloid, susceptibility to}; {Myelodysplastic syndrome, susceptibility to}; Emberger syndrome; Immunodeficiency 21 [OMIM 137295]
Germline predisposition syndrome
GNB1
Hemato Pro, ClinEX Pro
MDS/AML; MPN (rare); Leukemia, acute lymphoblastic, somatic; Mental retardation, autosomal dominant 42; Myelodysplastic syndrome, somatic [OMIM 139380]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
HNRNPK
Hemato Pro, ClinEX Pro
MDS with del(5q) (haploinsufficiency); Au-Kline syndrome [OMIM 600712]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
IKZF1
Hemato Pro, ClinEX Pro
B-ALL (esp. Ph+ and Ph-like); CLL (rare); Immunodeficiency, common variable, 13 [OMIM 603023]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
JAK1
Hemato Pro, ClinEX Pro
T-ALL, Ph-like ALL (rare); myeloid neoplasms (rare); Autoinflammation, immune dysregulation, and eosinophilia [OMIM 147795]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
KDM6A
Hemato Pro, ClinEX Pro
T-ALL/AML; DLBCL (rare); Kabuki syndrome 2 [OMIM 300128]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
KMT2D
Hemato Pro, ClinEX Pro
DLBCL, FL; Kabuki syndrome 1 [OMIM 602113]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
LUC7L2
Hemato Pro
MDS/AML (splicing factor)
Splicing factor gene
MECOM
Hemato Pro, ClinEX Pro
AML/MDS (inv(3)/t(3; 3)); thrombocytopenia with predisposition; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 [OMIM 165215]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
MPL
Hemato Pro, IVF Pro, ClinEX Pro
MPN (ET, PMF); Congenital amegakaryocytic thrombocytopenia Also linked to essential thrombocythemia; Myelofibrosis with myeloid metaplasia, somatic; Thrombocythemia 2; Thrombocytopenia, congenital amegakaryocytic [OMIM 159530]
Ruxolitinib, other JAK inhibitors (MPN)
MYC
Hemato Pro, ClinEX Pro
Burkitt lymphoma; DLBCL (double-hit); Burkitt lymphoma, somatic [OMIM 190080]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
NF1
Hemato Pro, Cardio Pro, Heva Pro, Fusion Pro, ClinEX Pro
JMML; MPN/MDS; RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Neurofibromatosis type 1 MPNST, glioma; breast cancer risk (women <50); RASopathy; NF1-NF1 , SUZ12-NF1 PRADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 27; Leukemia, juvenile myelomonocytic; Neurofibromatosis-Noonan syndrome; Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Watson syndrome [OMIM 613113]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
PAX5
Hemato Pro, Fusion Pro, ClinEX Pro
B-ALL; PAX5-PAX5 , PAX5-PMLacute lymphoblastic leukemia(ALL)ChiTaRs , ChimerPub-Plus — Known breakpoint exon(s): 5,6; {Leukemia, acute lymphoblastic, susceptibility to, 3} [OMIM 167414]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
PHF6
Hemato Pro, ClinEX Pro
T-ALL; AML; Borjeson-Forssman-Lehmann syndrome [OMIM 300414]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
PIGA
Hemato Pro, ClinEX Pro
Paroxysmal nocturnal hemoglobinuria (PNH); Multiple congenital anomalies-hypotonia-seizures syndrome 2; Paroxysmal nocturnal hemoglobinuria, somatic [OMIM 311770]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
PML
Hemato Pro, Fusion Pro, ClinEX Pro
APL (PML–RARA); PML-PML , PML-RARA LAMLChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 1,3,4,5,6; Leukemia, acute promyelocytic, PML/RARA type [OMIM 102578]
All-trans retinoic acid (ATRA) + Arsenic trioxide (APL, PML-RARA)
PPM1D
Hemato Pro, ClinEX Pro
Therapy-related myeloid neoplasms; clonal hematopoiesis; Breast cancer, somatic; Jansen de Vries syndrome [OMIM 605100]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
RAD21
Hemato Pro, ClinEX Pro
AML (cohesin pathway); ?Mungan syndrome; Cornelia de Lange syndrome 4 [OMIM 606462]
Cohesin complex gene
RAF1
Hemato Pro, Cardio Pro, Fusion Pro, ClinEX Pro
JMML/MPN (RASopathy-related); AML (rare); RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; SRGAP3-RAF1 Cosmic — Known breakpoint exon(s): 5,6,7,10; Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5 [OMIM 164760]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
RBBP6
Hemato Pro
Myeloid neoplasms (rare)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
RPS19
Hemato Pro, Neoscreen Pro, ClinEX Pro
Diamond–Blackfan anemia; Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 1 [OMIM 603474]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
RTEL1
Hemato Pro, IVF Pro, ClinEX Pro
Telomere biology disorders; aplastic anemia; MDS predisposition; Dyskeratosis congenita, telomere biology disorders Cancer predisposition; Dyskeratosis congenita, autosomal dominant 4; Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 [OMIM 608833]
Telomere biology / bone marrow failure syndromes
RUNX1
Hemato Pro, Heva Pro, Fusion Pro, ClinEX Pro
AML, MDS, CMML; familial platelet disorder with AML (FPD/AML); Familial platelet disorder with predisposition to AML (FPD/AML) Myeloid malignancy predisposition; surveillance hematology; RUNX1-RUNX1 , RUNX1- RUNX1T1 LAMLChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 1,2,3,5; Leukemia, acute myeloid; Platelet disorder, familial, with associated myeloid malignancy [OMIM 151385]
No gene-specific approved therapy; germline predisposition surveillance
SAMD9
Hemato Pro, ClinEX Pro
MDS predisposition (MIRAGE syndrome), monosomy 7; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2; Tumoral calcinosis, familial, normophosphatemic [OMIM 610456]
Germline predisposition syndrome
SAMD9L
Hemato Pro, ClinEX Pro
MDS predisposition, ataxia–pancytopenia; monosomy 7; Ataxia-pancytopenia syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 1 [OMIM 611170]
Germline predisposition syndrome
SBDS
Hemato Pro, Neoscreen Pro, ClinEX Pro
Shwachman–Diamond syndrome; MDS/AML predisposition; Shwachman –Diamond syndrome; {Aplastic anemia, susceptibility to}; Shwachman-Diamond syndrome [OMIM 607444]
Germline predisposition syndrome
SETBP1
Hemato Pro, ClinEX Pro
aCML, CMML, MDS/MPN overlap; Mental retardation, autosomal dominant 29; Schinzel-Giedion midface retraction syndrome [OMIM 611060]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
SF3B1
Hemato Pro, ClinEX Pro
MDS with ring sideroblasts; CLL (good-risk subset); Myelodysplastic syndrome, somatic [OMIM 605590]
Splicing factor gene
SH2B3
Hemato Pro, ClinEX Pro
MPN (JAK–STAT regulation), ALL predisposition (rare); Erythrocytosis, somatic; Myelofibrosis, somatic; Thrombocythemia, somatic [OMIM 605093]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
SMC1A
Hemato Pro, ClinEX Pro
AML (cohesin pathway); Cornelia de Lange syndrome 2; Developmental and epileptic encephalopathy 85, with or without midline brain defects [OMIM 300040]
Cohesin complex gene
SMC3
Hemato Pro, ClinEX Pro
AML (cohesin pathway); Cornelia de Lange syndrome 3 [OMIM 606062]
Cohesin complex gene
SOS1
Hemato Pro, Cardio Pro, ClinEX Pro
RASopathy; JMML (rare); RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; ?Fibromatosis, gingival, 1; Noonan syndrome 4 [OMIM 182530]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
SRP72
Hemato Pro, ClinEX Pro
Bone marrow failure/aplastic anemia; Bone marrow failure syndrome 1 [OMIM 602122]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
SRSF2
Hemato Pro
MDS/CMML; AML
Splicing factor gene
STAG1
Hemato Pro, ClinEX Pro
AML/MDS (cohesin); Mental retardation, autosomal dominant 47 [OMIM 604358]
Cohesin complex gene
STAG2
Hemato Pro, ClinEX Pro
MDS/AML; Ewing sarcoma (non-hem); Holoprosencephaly 13, X-linked; Mullegama-Klein-Martinez syndrome [OMIM 300826]
Cohesin complex gene
STAT3
Hemato Pro, Neoscreen Pro, ClinEX Pro
T-LGL leukemia; NK/T-cell neoplasms; Hyper -IgE syndrome (Job); Autoimmune disease, multisystem, infantile-onset, 1; Hyper-IgE recurrent infection syndrome [OMIM 102582]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
STAT5B
Hemato Pro, ClinEX Pro
T-LGL leukemia; T-cell neoplasms; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant; Leukemia, acute promyelocytic, somatic [OMIM 604260]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
TERC
Hemato Pro, ClinEX Pro
Telomere biology disorder; aplastic anemia; MDS predisposition; {Aplastic anemia}; {Pulmonary fibrosis, idiopathic, susceptibility to}; Dyskeratosis congenita, autosomal dominant 1 [OMIM 602322]
Telomere biology / bone marrow failure syndromes
U2AF1
Hemato Pro
MDS; AML
Splicing factor gene
WT1
Hemato Pro, Neoscreen Pro, Fusion Pro, ClinEX Pro
AML; MRD marker; Denys –Drash/Frasier syndromes; nephropathy; Wilms tumor 1 [Source:HGNC Symbol; Acc:12796] — Known breakpoint exon(s): 8,9,10; Denys-Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, somatic; Nephrotic syndrome, type 4; Wilms tumor, type 1 [OMIM 607102]
No gene-specific approved therapy; MRD monitoring marker
ZBTB7A
Hemato Pro, ClinEX Pro
AML (esp. t(8; 21) subset); aly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal h [OMIM M6a0c5ro8c7e8ph]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
ZRSR2
Hemato Pro
MDS; CMML
Splicing factor gene
B2M
Hemato Pro, ClinEX Pro
CLL; DLBCL; classical Hodgkin lymphoma (immune evasion); ?Amyloidosis, familial visceral; Immunodeficiency 43 [OMIM 109700]
Immune evasion / signaling in lymphoma
BCL2
Hemato Pro, ClinEX Pro
Follicular lymphoma; DLBCL; Leukemia/lymphoma, B-cell, 2 [OMIM 151430]
Venetoclax (BCL2 inhibitor)
BCL6
Hemato Pro, ClinEX Pro
DLBCL; FL; Lymphoma, B-cell [OMIM 109565]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
NAIP
Hemato Pro
Hematologic malignancy (rare/uncertain significance)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
BTK
Hemato Pro, Neoscreen Pro, ClinEX Pro
CLL; Waldenström macroglobulinemia (therapeutic target); X-linked agammaglobulinemia Ig replacement; infection prophylaxis; Agammaglobulinemia, X-linked 1; Isolated growth hormone deficiency, type III, with agammaglobulinemia [OMIM 300300]
Ibrutinib, Acalabrutinib, Zanubrutinib (BTK inhibitors)
CARD11
Hemato Pro, ClinEX Pro
DLBCL (ABC subtype); MALT lymphoma; B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11A; Immunodeficiency 11B with atopic dermatitis [OMIM 607210]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CCND1
Hemato Pro, ClinEX Pro
Mantle cell lymphoma; {Colorectal cancer, susceptibility to}; {Multiple myeloma, susceptibility to}; {von Hippel-Lindau syndrome, modifier of} [OMIM 168461]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CCND3
Hemato Pro
Burkitt lymphoma; DLBCL (subset)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CD58
Hemato Pro
DLBCL; CLL (immune escape)
Immune evasion / signaling in lymphoma
CD79A
Hemato Pro, Neoscreen Pro, ClinEX Pro
DLBCL (ABC subtype); Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Agammaglobulinemia 3 [OMIM 112205]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CD79B
Hemato Pro, Neoscreen Pro, ClinEX Pro
DLBCL (ABC subtype); Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Agammaglobulinemia 6 [OMIM 147245]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CDKN2B
Hemato Pro
T-ALL/B-ALL; aggressive lymphomas
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CHD2
Hemato Pro, ClinEX Pro
CLL; B-cell lymphomas (rare); Develomental and epileptic encephalopathy 94 [OMIM 602119]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
CIITA
Hemato Pro, ClinEX Pro
Primary mediastinal B-cell lymphoma; classical Hodgkin lymphoma; {Rheumatoid arthritis, susceptibility to}; Bare lymphocyte syndrome, type II, complementation group A [OMIM 600005]
Immune evasion / signaling in lymphoma
CXCR4
Hemato Pro, Neoscreen Pro, ClinEX Pro
Waldenström macroglobulinemia; WHIM syndrome (germline); WHIM syndrome G-CSF/plerixafor context; Myelokathexis, isolated; WHIM syndrome [OMIM 162643]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
EP300
Hemato Pro, Fusion Pro, ClinEX Pro
DLBCL; FL; EP300-EP300 , KMT2A-EP300 , EP300-ZC3H7B , EP300- ZNF384STAD , Burkitt(B cell acute lymphoblastic leukemia(ALL))ChiTaRs , Cosmic , TCGA_RNA-Seq , ChimerPub-Plus — Known breakpoint exon(s): 13,15; Colorectal cancer, somatic; Menke-Hennekam syndrome 2; Rubinstein- Taybi syndrome 2 [OMIM 602700]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
FOXO1
Hemato Pro, Fusion Pro, ClinEX Pro
DLBCL; Burkitt lymphoma; B-ALL; FOXO1-FOXO1 , PAX3-FOXO1 , PAX7-FOXO1 , FOXO1- PDGFRB , WDFY2-FOXO1 KICH , STADChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 1,2; Rhabdomyosarcoma, alveolar [OMIM 136533]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
GNA13
Hemato Pro
DLBCL; Burkitt lymphoma
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
ID3
Hemato Pro
Burkitt lymphoma
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
IRF4
Hemato Pro, ClinEX Pro
Multiple myeloma; ABC-DLBCL; IRF4-rearranged LBCL; [Skin/hair/eye pigmentation, variation in, 8] [OMIM 601900]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
MAL
Hemato Pro
Primary mediastinal B-cell lymphoma
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
MEF2B
Hemato Pro
Follicular lymphoma; DLBCL
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
MYD88
Hemato Pro, ClinEX Pro
DLBCL (ABC subtype); Waldenström macroglobulinemia; Immunodeficiency 68; Macroglobulinemia, Waldenstrom, somatic [OMIM 602170]
Ibrutinib (BTK inhibitor, Waldenstrom macroglobulinemia)
NFKBIE
Hemato Pro
CLL; DLBCL (ABC)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
PIM1
Hemato Pro
DLBCL
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
PLCG2
Hemato Pro, ClinEX Pro
CLL (BTK inhibitor resistance); Autoinflammation, antibody deficiency, and immune dysregulation syndrome; Familial cold autoinflammatory syndrome 3 [OMIM 600220]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
POT1
Hemato Pro, ClinEX Pro
CLL; familial telomere syndromes (predisposition); {Glioma susceptibility 9}; {Melanoma, cutaneous malignant, susceptibility to, 10} [OMIM 606478]
Telomere biology / bone marrow failure syndromes
PRDM1
Hemato Pro
DLBCL (ABC); plasmablastic lymphoma
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
REL
Hemato Pro, ClinEX Pro
DLBCL; classical Hodgkin lymphoma; Immunodeficiency 92 [OMIM 164910]
Immune evasion / signaling in lymphoma
SOCS1
Hemato Pro, ClinEX Pro
Primary mediastinal B-cell lymphoma; classical Hodgkin lymphoma; DLBCL; Autoinflammatory syndrome, familial, with or without immunodeficiency [OMIM 603597]
Immune evasion / signaling in lymphoma
STAT6
Hemato Pro, Fusion Pro
Follicular lymphoma; primary mediastinal B-cell lymphoma; STAT6-STAT6 ChiTaRs
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
TCF3
Hemato Pro, Neoscreen Pro, Fusion Pro, ClinEX Pro
Burkitt lymphoma; B-ALL; Agammaglobulinemia (rare); TCF3-TCF3 , TPM4-TCF3 , TCF3-ZNF384STAD , acute lymphoblastic leukemia; lymphoblastic lymphomaChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 16,17; Agammaglobulinemia 8, autosomal dominant [OMIM 147141]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
TNFAIP3
Hemato Pro, ClinEX Pro
DLBCL; marginal zone lymphoma; classical Hodgkin lymphoma; Autoinflammatory syndrome, familial, Behcet-like [OMIM 191163]
Immune evasion / signaling in lymphoma
TNFRSF14
Hemato Pro
Follicular lymphoma
Immune evasion / signaling in lymphoma
XPO1
Hemato Pro
Primary mediastinal B-cell lymphoma; classical Hodgkin lymphoma; CLL
Immune evasion / signaling in lymphoma
BIRC3
Hemato Pro
CLL; splenic marginal zone lymphoma; DLBCL (NF-kappaB pathway)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
DIS3
Hemato Pro
Multiple myeloma; plasma cell neoplasms
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
TENT5C
Hemato Pro
Multiple myeloma (aka FAM46C)
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
FAS
Hemato Pro, Neoscreen Pro, ClinEX Pro
Autoimmune lymphoproliferative syndrome; DLBCL (rare); Autoimmune lymphoproliferative syndrome (ALPS); {Autoimmune lymphoproliferative syndrome}; Autoimmune lymphoproliferative syndrome, type IA; Squamous cell carcinoma, burn scar- related, somatic [OMIM 134637]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
RHOA
Hemato Pro, ClinEX Pro
Angioimmunoblastic T-cell lymphoma; peripheral T-cell lymphoma (TFH); Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic [OMIM 165390]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
RPS15
Hemato Pro
Chronic lymphocytic leukemia
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
SAMHD1
Hemato Pro, ClinEX Pro
Chronic lymphocytic leukemia; MDS/AML (therapy resistance); ?Chilblain lupus 2; Aicardi-Goutieres syndrome 5 [OMIM 606754]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
SGK1
Hemato Pro
Diffuse large B-cell lymphoma; follicular lymphoma
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
SMARCA4
Hemato Pro, ClinEX Pro
Aggressive B-cell lymphomas (rare); broad cancer predisposition (non-hem predominant); {Rhabdoid tumor predisposition syndrome 2}; Coffin-Siris syndrome 4 [OMIM 603254]
No gene-specific approved therapy on record; managed per tumor-context guidelines (e.g. NCCN).
MTHFR
Neoscreen Pro, IVF Pro, ClinEX Pro
Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; deficiency C677T variant risk factor; {Neural tube defects, susceptibility to}; {Schizophrenia, susceptibility to}; {Thromboembolism, susceptibility to}; {Vascular disease, susceptibility to}; Homocystinuria due to MTHFR deficiency [OMIM 607093]
—
TSHB
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Hypothyroidism, congenital, nongoitrous 4 [OMIM 188540]
—
NKX2-1
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; {Thyroid cancer, nonmedullary, 1}; Chorea, hereditary benign; Choreoathetosis, hypothyroidism, and neonatal respiratory distress [OMIM 600635]
—
DUOX2
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Thyroid dyshormonogenesis 6 [OMIM 606759]
—
DUOXA2
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Thyroid dyshormonogenesis 5 [OMIM 612772]
—
HEXA
Neoscreen Pro, IVF Pro, ClinEX Pro
Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Tay-Sachs disease GM2 gangliosidosis; [Hex A pseudodeficiency]; GM2-gangliosidosis, several forms; Tay-Sachs disease [OMIM 606869]
—
CD19
Neoscreen Pro, ClinEX Pro
Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Immunodeficiency, common variable, 3 [OMIM 107265]
—
THRA
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Hypothyroidism, congenital, nongoitrous, 6 [OMIM 190120]
—
SLC5A5
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Thyroid dyshormonogenesis 1 [OMIM 601843]
—
TPO
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Thyroid dyshormonogenesis 2A [OMIM 606765]
—
ARSA
Neoscreen Pro, IVF Pro, ClinEX Pro
Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Metachromatic leukodystrophy Lysosomal storage disease; Metachromatic leukodystrophy [OMIM 607574]
—
GLB1
Neoscreen Pro, IVF Pro, ClinEX Pro
Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; GM1 gangliosidosis, Morquio B Lysosomal storage disorder; GM1-gangliosidosis, type I; GM1-gangliosidosis, type II; GM1-gangliosidosis, type III; Mucopolysaccharidosis type IVB (Morquio) [OMIM 611458]
—
NKX2-5
Neoscreen Pro, Cardio Pro, ClinEX Pro
Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Atrial septal defect 7, with or without AV conduction defects; Conotruncal heart malformations, variable; Hypoplastic left heart syndrome 2; Hypothyroidism, congenital nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3 [OMIM 600584]
—
IYD
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Thyroid dyshormonogenesis 4 [OMIM 612025]
—
SLC26A4
Neoscreen Pro, IVF Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Pendred syndrome, nonsyndromic deafness Goiter may be present; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Pendred syndrome [OMIM 605646]
—
TG
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; {Autoimmune thyroid disease, susceptibility to, 3}; Thyroid dyshormonogenesis 3 [OMIM 188450]
—
FOXE1
Neoscreen Pro, ClinEX Pro
Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; {Thyroid cancer, nonmedullary, 4}; Bamforth-Lazarus syndrome [OMIM 602617]
—
MAN2B1
Neoscreen Pro, ClinEX Pro
Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Mannosidosis, alpha-, types I and II [OMIM 609458]
—
PSAP
Neoscreen Pro, ClinEX Pro
Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Combined SAP deficiency; Gaucher disease, atypical; Krabbe disease, atypical; Metachromatic leukodystrophy due to SAP-b deficiency [OMIM 176801]
—
GHR
Neoscreen Pro, ClinEX Pro
Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; {Hypercholesterolemia, familial, modifier of}; Growth hormone insensitivity, partial; Increased responsiveness to growth hormone; Laron dwarfism [OMIM 600946]
—
SRY
Neoscreen Pro, ClinEX Pro
Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed; 46XX sex reversal 1; 46XY sex reversal 1 [OMIM 480000]
—
ABCC6
Neoscreen Pro, ClinEX Pro
Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Arterial calcification, generalized, of infancy, 2; Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste [OMIM 603234]
—
ABCC8
Neoscreen Pro, IVF Pro, ClinEX Pro
Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Congenital hyperinsulinism / neonatal diabetes Also involved in type 2 diabetes; Diabetes mellitus, noninsulin-dependent; Diabetes mellitus, permanent neonatal 3, with or without neurologic features; Diabetes mellitus, transient neonatal 2; Hyperinsulinemic hypoglycemia, familial, 1; Hypoglycemia of infancy, leucine-sensitive [OMIM 600509]
—
ABCD4
Neoscreen Pro, ClinEX Pro
Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Methylmalonic aciduria and homocystinuria, cblJ type [OMIM 603214]
—
ACAD8
Neoscreen Pro, ClinEX Pro
Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Isobutyryl-CoA dehydrogenase deficiency [OMIM 604773]
—
ACAD9
Neoscreen Pro, ClinEX Pro
Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Mitochondrial complex I deficiency, nuclear type 20 [OMIM 611103]
—
ACADM
Neoscreen Pro, IVF Pro, ClinEX Pro
Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Medium -chain acyl -CoA dehydrogenase deficiency (MCAD) Fatty acid oxidation disorder; Acyl-CoA dehydrogenase, medium chain, deficiency of [OMIM 607008]
—
ACADS
Neoscreen Pro, ClinEX Pro
Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Acyl-CoA dehydrogenase, short-chain, deficiency of [OMIM 606885]
—
ACADSB
Neoscreen Pro, ClinEX Pro
Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; 2-methylbutyrylglycinuria [OMIM 600301]
—
ACADVL
Neoscreen Pro, IVF Pro, ClinEX Pro
Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Very long -chain acyl -CoA dehydrogenase deficiency (VLCAD) Fatty acid oxidation disorder; VLCAD deficiency [OMIM 609575]
—
ACAT1
Neoscreen Pro, ClinEX Pro
Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Alpha-methylacetoacetic aciduria [OMIM 607809]
—
ACVRL1
Neoscreen Pro, ClinEX Pro
Hereditary hemorrhagic telangiectasia (HHT) Vascular malformation surveillance; Telangiectasia, hereditary hemorrhagic, type 2 [OMIM 601284]
—
ADA
Neoscreen Pro, ClinEX Pro
Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Adenosine deaminase deficiency, partial; Severe combined immunodeficiency due to ADA deficiency [OMIM 608958]
—
ADAMTS13
Neoscreen Pro, ClinEX Pro
Thrombotic thrombocytopenic purpura (congenital) Plasma infusion/Caplacizumab context; Thrombotic thrombocytopenic purpura, hereditary [OMIM 604134]
—
ADK
Neoscreen Pro, ClinEX Pro
Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Hypermethioninemia due to adenosine kinase deficiency [OMIM 102750]
—
AGL
Neoscreen Pro, ClinEX Pro
Glycogen storage disease type III Dietary management; Glycogen storage disease IIIa; Glycogen storage disease IIIb [OMIM 610860]
—
AGRN
Neoscreen Pro, ClinEX Pro
Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects [OMIM 103320]
—
AHCY
Neoscreen Pro, ClinEX Pro
Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [OMIM 180960]
—
AIRE
Neoscreen Pro, ClinEX Pro
Autoimmune polyendocrinopathy-candidiasis -ectodermal dystrophy (APECED) Autoimmune surveillance; Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia [OMIM 607358]
—
AK2
Neoscreen Pro, ClinEX Pro
Reticular dysgenesis (SCID) HSCT; Reticular dysgenesis [OMIM 103020]
—
ALDH7A1
Neoscreen Pro, ClinEX Pro
Pyridoxine -dependent epilepsy Vitamin B6 responsive; Epilepsy, pyridoxine-dependent [OMIM 107323]
—
ALDOB
Neoscreen Pro, IVF Pro, ClinEX Pro
Hereditary fructose intolerance Dietary restriction (fructose); Hereditary fructose intolerance Defect of aldolase B; Fructose intolerance, hereditary [OMIM 612724]
—
ALG14
Neoscreen Pro, ClinEX Pro
Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); ?Myasthenic syndrome, congenital, 15, without tubular aggregates; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies; Myopathy, epilepsy, and progressive cerebral atrophy [OMIM 612866]
—
ALPL
Neoscreen Pro, ClinEX Pro
Hypophosphatasia Bone/mineral metabolism; Hypophosphatasia, adult; Hypophosphatasia, childhood; Hypophosphatasia, infantile; Odontohypophosphatasia [OMIM 171760]
—
AMN
Neoscreen Pro, ClinEX Pro
Imerslund –Gräsbeck syndrome Vitamin B12 malabsorption; Imerslund-Grasbeck syndrome 2 [OMIM 605799]
—
APOB
Neoscreen Pro, Cardio Pro, ClinEX Pro
Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Lipid disorder; Familial hypercholesterolemia (atherosclerotic cardiovascular disease risk) Targetable (lipid -lowering: statins, ezetimibe, PCSK9/ANGPTL3 inhibitors); Hypercholesterolemia, familial, 2; Hypobetalipoproteinemia [OMIM 107730]
—
AQP2
Neoscreen Pro, ClinEX Pro
Nephrogenic diabetes insipidus Water/electrolyte management; Diabetes insipidus, nephrogenic [OMIM 107777]
—
ARG1
Neoscreen Pro, ClinEX Pro
Urea cycle disorder (hyperammonemia) Protein restriction; nitrogen-scavenging therapy; Argininemia [OMIM 608313]
—
ARPC1B
Neoscreen Pro, ClinEX Pro
Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia [OMIM 604223]
—
ARSB
Neoscreen Pro, ClinEX Pro
Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Mucopolysaccharidosis type VI (Maroteaux-Lamy) [OMIM 611542]
—
ASL
Neoscreen Pro, IVF Pro, ClinEX Pro
Urea cycle disorder (hyperammonemia) Protein restriction; nitrogen-scavenging therapy; Argininosuccinic aciduria Urea cycle disorder, hyperammonemia; Argininosuccinic aciduria [OMIM 608310]
—
ASS1
Neoscreen Pro, ClinEX Pro
Urea cycle disorder (hyperammonemia) Protein restriction; nitrogen-scavenging therapy; Citrullinemia [OMIM 603470]
—
ATP6V0A4
Neoscreen Pro, ClinEX Pro
Distal renal tubular acidosis Electrolyte management; Distal renal tubular acidosis 3, with or without sensorineural hearing loss [OMIM 605239]
—
ATP6V1B1
Neoscreen Pro, ClinEX Pro
Distal renal tubular acidosis (with deafness) Electrolyte management; Distal renal tubular acidosis 2 with progressive sensorineural hearing loss [OMIM 192132]
—
ATP7A
Neoscreen Pro, IVF Pro, ClinEX Pro
Copper metabolism disorder Menkes (ATP7A) / Wilson (ATP7B); Menkes disease Copper metabolism defect; Menkes disease; Occipital horn syndrome; Spinal muscular atrophy, distal, X- linked 3 [OMIM 300011]
—
ATP7B
Neoscreen Pro, IVF Pro, ClinEX Pro
Copper metabolism disorder Menkes (ATP7A) / Wilson (ATP7B); Wilson disease Copper accumulation; Wilson disease [OMIM 606882]
—
AUH
Neoscreen Pro, ClinEX Pro
3-methylglutaconic aciduria type I; 3-methylglutaconic aciduria, type I [OMIM 600529]
—
AVPR2
Neoscreen Pro, ClinEX Pro
X-linked nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic; Nephrogenic syndrome of inappropriate antidiuresis [OMIM 300538]
—
BCKDHA
Neoscreen Pro, ClinEX Pro
Maple syrup urine disease (type IA) Dietary leucine restriction; Maple syrup urine disease, type Ia [OMIM 608348]
—
BCKDHB
Neoscreen Pro, IVF Pro, ClinEX Pro
MSUD (type IB) Dietary management; Maple syrup urine disease (MSUD) Defect in branched -chain amino acid metabolism; Maple syrup urine disease, type Ib [OMIM 248611]
—
BCKDK
Neoscreen Pro, ClinEX Pro
Branched -chain ketoacid dehydrogenase kinase deficiency Amino acid -responsive; Branched-chain ketoacid dehydrogenase kinase deficiency [OMIM 614901]
—
BLNK
Neoscreen Pro, ClinEX Pro
Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; ?Agammaglobulinemia 4 [OMIM 604515]
—
BSND
Neoscreen Pro, ClinEX Pro
Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Bartter syndrome, type 4a; Sensorineural deafness with mild renal dysfunction [OMIM 606412]
—
BTD
Neoscreen Pro, IVF Pro, ClinEX Pro
Biotinidase deficiency Biotin responsive; Biotinidase deficiency Treatable metabolic disorder; Biotinidase deficiency [OMIM 609019]
—
C3
Neoscreen Pro, ClinEX Pro
Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}; {Macular degeneration, age-related, 9}; C3 deficiency [OMIM 120700]
—
C5
Neoscreen Pro, ClinEX Pro
Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; [Eculizumab, poor response to]; C5 deficiency [OMIM 120900]
—
C6
Neoscreen Pro, ClinEX Pro
Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; C6 deficiency; Combined C6/C7 deficiency [OMIM 217050]
—
C7
Neoscreen Pro, ClinEX Pro
Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; C7 deficiency [OMIM 217070]
—
C8A
Neoscreen Pro, ClinEX Pro
Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; C8 deficiency, type I [OMIM 120950]
—
C8B
Neoscreen Pro, ClinEX Pro
Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; C8 deficiency, type II [OMIM 120960]
—
C9
Neoscreen Pro, ClinEX Pro
Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; {Macular degeneration, age-related, 15, susceptibility to}; C9 deficiency [OMIM 120940]
—
CA5A
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Hyperammonemia due to carbonic anhydrase VA deficiency [OMIM 114761]
—
CACNA1C
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Brugada syndrome 3; Long QT syndrome 8; Timothy syndrome [OMIM 114205]
—
RYR1
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MUT Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Congenital myopathies; malignant hyperthermia (non -cardiac predominant) Cardiomyopathy rare/uncertain; Malignant hyperthermia, congenital myopathies Anesthetic risk; {Malignant hyperthermia susceptibility 1}; Central core disease; King- Denborough syndrome; Minicore myopathy with external ophthalmoplegia; Neuromuscular disease, congenital, with uniform type 1 fiber [OMIM 180901]
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CACNA1D
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Primary aldosteronism, seizures, and neurologic abnormalities; Sinoatrial node dysfunction and deafness [OMIM 114206]
—
CASR
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); {Epilepsy idiopathic generalized, susceptibility to, 8}; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant; Hypocalcemia, autosomal dominant, with Bartter syndrome; Hypocalciuric hypercalcemia, type I [OMIM 601199]
—
CBLIF
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Intrinsic factor deficiency [OMIM 609342]
—
CBS
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Classical homocystinuria B6/betaine responsive variants subset CD1 Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Homocystinuria with premature vascular disease Treatable (vitamin/cofactor/low-methionine); Classical homocystinuria Methionine metabolism disorder; Homocystinuria, B6-responsive and nonresponsive types; Thrombosis, hyperhomocysteinemic [OMIM 613381]
—
CD3D
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Immunodeficiency 19 [OMIM 186790]
—
CD3E
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Immunodeficiency 18; Immunodeficiency 18, SCID variant [OMIM 186830]
—
CD40LG
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Immunodeficiency, X-linked, with hyper-IgM [OMIM 300386]
—
CDKN1C
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Beckwith–Wiedemann syndrome (11p15) tumor predisposition; IMAGe syndrome (opposite imprinting) Embryonal tumors (Wilms, hepatoblastoma, neuroblastoma) risk in BWS; Beckwith-Wiedemann syndrome; IMAGE syndrome [OMIM 600856]
—
CFB
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Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; ?Complement factor B deficiency; {Hemolytic uremic syndrome, atypical, susceptibility to, 4}; {Macular degeneration, age-related, 14, reduced risk of} [OMIM 138470]
—
CFD
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Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; Complement factor D deficiency [OMIM 134350]
—
CFP
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Complement deficiency Infection risk (Neisseria); vaccination prophylaxis; Properdin deficiency, X-linked [OMIM 300383]
—
CFTR
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Cystic fibrosis / CFTR -related disorder Modulator therapy by genotype; Cystic fibrosis >2000 known variants; {Bronchiectasis with or without elevated sweat chloride 1, modifier of}; {Hypertrypsinemia, neonatal}; {Pancreatitis, hereditary}; Congenital bilateral absence of vas deferens; Cystic fibrosis; Sweat chloride elevation without CF [OMIM 602421]
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CHAT
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Myasthenic syndrome, congenital, 6, presynaptic [OMIM 118490]
—
CHRNA1
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 1A, slow-channel; Myasthenic syndrome, congenital, 1B, fast- channel [OMIM 100690]
—
CHRNB1
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, 2A, slow-channel [OMIM 100710]
—
CHRND
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; ?Myasthenic syndrome, congenital, 3A, slow-channel; ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 3B, fast-channel [OMIM 100720]
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CHRNE
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Myasthenic syndrome, congenital, 4A, slow-channel; Myasthenic syndrome, congenital, 4B, fast-channel; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency [OMIM 100725]
—
CLCN7
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Hypopigmentation, organomegaly, and delayed myelination and development; Osteopetrosis, autosomal dominant 2; Osteopetrosis, autosomal recessive 4 [OMIM 602727]
—
CLCNKB
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Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Classic Bartter syndrome; arrhythmia risk (electrolyte -mediated) Secondary QT effects; Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic [OMIM 602023]
—
COL13A1
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Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Myasthenic syndrome, congenital, 19 [OMIM 120350]
—
COL4A5
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Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Alport syndrome (X -linked) Kidney disease; Alport syndrome 1, X-linked [OMIM 303630]
—
COLQ
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Myasthenic syndrome, congenital, 5 [OMIM 603033]
—
COQ2
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; {Multiple system atrophy, susceptibility to}; Coenzyme Q10 deficiency, primary, 1 [OMIM 609825]
—
COQ4
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; Coenzyme Q10 deficiency, primary, 7 [OMIM 612898]
—
COQ6
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; Coenzyme Q10 deficiency, primary, 6 [OMIM 614647]
—
COQ7
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; ?Coenzyme Q10 deficiency, primary, 8 [OMIM 601683]
—
COQ8A
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; Coenzyme Q10 deficiency, primary, 4 [OMIM 606980]
—
COQ8B
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; Nephrotic syndrome, type 9 [OMIM 615567]
—
COQ9
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; Coenzyme Q10 deficiency, primary, 5 [OMIM 612837]
—
CPOX
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Coproporphyria; Harderoporphyria [OMIM 612732]
—
CPS1
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Urea cycle disorder (hyperammonemia) Protein restriction; nitrogen-scavenging therapy; {Pulmonary hypertension, neonatal, susceptibility to}; Carbamoylphosphate synthetase I deficiency [OMIM 608307]
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CPT1A
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CPT1A deficiency Avoid fasting; MCT diet; CPT deficiency, hepatic, type IA [OMIM 600528]
—
CPT2
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CPT2 deficiency Avoid triggers; dietary; Carnitine palmitoyltransferase II deficiency Fatty acid oxidation disorder; {Encephalopathy, acute, infection-induced, 4, susceptibility to}; CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced [OMIM 600650]
—
CTNS
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Cystinosis Cysteamine therapy; Cystinosis, atypical nephropathic; Cystinosis, late-onset juvenile or adolescent nephropathic; Cystinosis, nephropathic; Cystinosis, ocular nonnephropathic [OMIM 606272]
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CTPS1
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Immunodeficiency with defective lymphocyte proliferation; Immunodeficiency 24 [OMIM 123860]
—
CUBN
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; [Proteinuria, chronic benign]; Imerslund-Grasbeck syndrome 1 [OMIM 602997]
—
CYBA
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Chronic granulomatous disease 4, autosomal recessive [OMIM 608508]
—
CYBB
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Chronic granulomatous disease, X-linked; Immunodeficiency 34, mycobacteriosis, X-linked [OMIM 300481]
—
CYBC1
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Chronic granulomatous disease 5, autosomal recessive [OMIM 618334]
—
CYP11A1
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Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed; Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete [OMIM 118485]
—
CYP11B1
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Aldosteronism, glucocorticoid-remediable [OMIM 610613]
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CYP11B2
Neoscreen Pro, ClinEX Pro
Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; {Low renin hypertension, susceptibility to}; Aldosterone to renin ratio raised; Hypoaldosteronism, congenital, due to CMO I deficiency; Hypoaldosteronism, congenital, due to CMO II deficiency [OMIM 124080]
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CYP17A1
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Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed; 17-alpha-hydroxylase/17,20-lyase deficiency; 17,20-lyase deficiency, isolated [OMIM 609300]
—
CYP21A2
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Congenital adrenal hyperplasia (21-hydroxylase deficiency) Classic and non -classic forms; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency [OMIM 613815]
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CYP27B1
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Vitamin D-dependent rickets, type I [OMIM 609506]
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CYP2R1
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Rickets due to defect in vitamin D 25-hydroxylation deficiency [OMIM 608713]
—
DBT
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Maple syrup urine disease, type II [OMIM 248610]
—
DCLRE1C
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Artemis deficiency (SCID) HSCT; Omenn syndrome; Severe combined immunodeficiency, Athabascan type [OMIM 605988]
—
DDC
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Aromatic L-amino acid decarboxylase deficiency [OMIM 107930]
—
DGAT1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; ?Diarrhea 7, protein-losing enteropathy type [OMIM 604900]
—
DKC1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Dyskeratosis congenita, X-linked [OMIM 300126]
—
DLAT
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Pyruvate dehydrogenase complex deficiency (E2); Pyruvate dehydrogenase E2 deficiency [OMIM 608770]
—
DLD
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Dihydrolipoamide dehydrogenase deficiency PDH/E3 -related; metabolic management; Dihydrolipoamide dehydrogenase deficiency Metabolic encephalopathy; Dihydrolipoamide dehydrogenase deficiency [OMIM 238331]
—
DMD
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Duchenne/Becker muscular dystrophy Large deletions/duplications common; Becker muscular dystrophy; Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy [OMIM 300377]
—
DNAJC19
Neoscreen Pro, Cardio Pro, ClinEX Pro
3-methylglutaconic aciduria with cardiomyopathy (DCMA); Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); 3-methylglutaconic aciduria, type V [OMIM 608977]
—
DOCK8
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DOCK8 immunodeficiency syndrome HSCT; Hyper-IgE recurrent infection syndrome, autosomal recessive [OMIM 611432]
—
DOK7
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Fetal akinesia deformation sequence 3; Myasthenic syndrome, congenital, 10 [OMIM 610285]
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DPAGT1
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13, with tubular aggregates [OMIM 191350]
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DSP
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Cardiocutaneous/arrhythmogenic cardiomyopathy Cardiac surveillance; Arrhythmogenic cardiomyopathy (ACM/ARVC) Desmosomal/intercalated disc pathway; Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with woolly hair and keratoderma; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Epidermolysis bullosa, lethal acantholytic; Keratosis palmoplantaris striata II; Skin fragility-woolly hair syndrome [OMIM 125647]
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EFL1
Neoscreen Pro, ClinEX Pro
Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Shwachman-Diamond syndrome 2 [OMIM 617538]
—
EIF2AK3
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Wolcott –Rallison syndrome Neonatal diabetes; liver failure risk; Wolcott-Rallison syndrome [OMIM 604032]
—
ERCC4
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XPF (NER) — xeroderma pigmentosum / Fanconi overlap; Fanconi anemia, complementation group Q; Xeroderma pigmentosum, group F; Xeroderma pigmentosum, type F/Cockayne syndrome; XFE progeroid syndrome [OMIM 133520]
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ETFA
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Glutaric acidemia IIA [OMIM 608053]
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ETFB
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Glutaric acidemia IIB [OMIM 130410]
—
ETFDH
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Glutaric acidemia IIC [OMIM 231675]
—
ETHE1
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Ethylmalonic encephalopathy [OMIM 608451]
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F13A1
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Coagulation/platelet disorder Bleeding/platelet function defect; Factor XIII deficiency Rare bleeding disorder; {Myocardial infarction, protection against}; {Venous thrombosis, protection against}; Factor XIIIA deficiency [OMIM 134570]
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F13B
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Coagulation/platelet disorder Bleeding/platelet function defect; Factor XIIIB deficiency [OMIM 134580]
—
F2
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Coagulation/platelet disorder Bleeding/platelet function defect; Prothrombin thrombophilia G20210A mutation; {Pregnancy loss, recurrent, susceptibility to, 2}; {Stroke, ischemic, susceptibility to}; Dysprothrombinemia; Hypoprothrombinemia; Thrombophilia due to thrombin defect [OMIM 176930]
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F8
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Coagulation/platelet disorder Bleeding/platelet function defect; Hemophilia A [OMIM 300841]
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F9
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Coagulation/platelet disorder Bleeding/platelet function defect; {Deep venous thrombosis, protection against}; {Warfarin sensitivity}; Hemophilia B; Thrombophilia, X-linked, due to factor IX defect [OMIM 300746]
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FAH
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Tyrosinemia type I NTBC therapy; liver surveillance; Tyrosinemia type I Severe metabolic disorder; Tyrosinemia, type I [OMIM 613871]
—
FANCB
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia, complementation group B [OMIM 300515]
—
FANCC
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia DNA repair defect; Fanconi anemia, complementation group C [OMIM 613899]
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FANCD2
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia, complementation group D2 [OMIM 613984]
—
FANCE
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia, complementation group E [OMIM 613976]
—
FANCF
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia, complementation group F [OMIM 613897]
—
FANCG
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia, complementation group G [OMIM 602956]
—
FANCI
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; Fanconi anemia, complementation group I [OMIM 611360]
—
FBP1
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Fructose -1,6-bisphosphatase deficiency Avoid fasting; emergency regimen; Fructose-1,6-bisphosphatase deficiency [OMIM 611570]
—
FERMT3
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Coagulation/platelet disorder Bleeding/platelet function defect; Leukocyte adhesion deficiency, type III [OMIM 607901]
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FLAD1
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency [OMIM 610595]
—
FOLR1
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Cerebral folate deficiency Folinic acid responsive; Neurodegeneration due to cerebral folate transport deficiency [OMIM 136430]
—
FOXA2
Neoscreen Pro
Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed
—
FOXN1
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Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed; T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant [OMIM 600838]
—
FOXP3
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Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked [OMIM 300292]
—
G6PC3
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Severe congenital neutropenia with cardiac/urogenital anomalies; Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive [OMIM 611045]
—
G6PD
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G6PD deficiency (hemolysis) Avoid triggers; {Resistance to malaria due to G6PD deficiency}; Hemolytic anemia, G6PD deficient (favism) [OMIM 305900]
—
GAA
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Pompe disease Enzyme replacement therapy available; Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Pompe disease Lysosomal storage disorder; Glycogen storage disease II [OMIM 606800]
—
GALC
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Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Krabbe disease Lysosomal storage disorder; Krabbe disease [OMIM 606890]
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GALE
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Galactose epimerase deficiency [OMIM 606953]
—
GALK1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Galactokinase deficiency with cataracts [OMIM 604313]
—
GALNS
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Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Mucopolysaccharidosis IVA [OMIM 612222]
—
GALT
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Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Classic galactosemia Newborn screening GBA Gaucher disease Lysosomal storage disorder; Galactosemia [OMIM 606999]
—
GAMT
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Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Cerebral creatine deficiency syndrome 2 [OMIM 601240]
—
GATM
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Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor GBA Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; glycine amidinotransferase (L-arginine:glycine amidinotransferase) [Source:HGNC Symbol; Acc:4175] — Known breakpoint exon(s): 2; Cerebral creatine deficiency syndrome 3; Fanconi renotubular syndrome 1 [OMIM 602360]
—
GCDH
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Glutaric acidemia type I Diet/carnitine; emergency regimen; Glutaric acidemia type I Metabolic disorder; Glutaricaciduria, type I [OMIM 608801]
—
GCH1
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; Hyperphenylalaninemia, BH4-deficient, B [OMIM 600225]
—
GCK
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MODY2 / congenital hyperinsulinism variant -dependent Mild stable fasting hyperglycemia; Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal 1; Hyperinsulinemic hypoglycemia, familial, 3; MODY, type II [OMIM 138079]
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GFPT1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Myasthenia, congenital, 12, with tubular aggregates [OMIM 138292]
—
GH1
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Isolated GH deficiency GH therapy; Growth hormone deficiency, isolated, type IA; Growth hormone deficiency, isolated, type IB; Growth hormone deficiency, isolated, type II; Kowarski syndrome [OMIM 139250]
—
GHRHR
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Growth hormone deficiency, isolated, type IV [OMIM 139191]
—
GJB2
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Non -syndromic deafness (DFNB1); Non -syndromic hearing loss 35delG most frequent variant; Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A; Deafness, autosomal recessive 1A; Hystrix-like ichthyosis with deafness; Keratitis- ichthyosis-deafness syndrome; Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome [OMIM 121011]
—
GJB3
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Deafness, autosomal dominant 2B; Deafness, autosomal dominant, with peripheral neuropathy; Deafness, autosomal recessive; Deafness, digenic, GJB2/GJB3; Erythrokeratodermia variabilis et progressiva 1 [OMIM 603324]
—
GJB6
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DFNB1 (large deletions with GJB2); Deafness, autosomal dominant 3B; Deafness, autosomal recessive 1B; Deafness, digenic GJB2/GJB6; Ectodermal dysplasia 2, Clouston type [OMIM 604418]
—
GLA
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Fabry disease ERT/Chaperone therapy; Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Fabry disease X-linked lysosomal disorder; Fabry disease; Fabry disease, cardiac variant [OMIM 300644]
—
GLIS3
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Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; Diabetes mellitus, neonatal, with congenital hypothyroidism [OMIM 610192]
—
GLRA1
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Startle disease (hyperekplexia); Hyperekplexia 1 [OMIM 138491]
—
GLRB
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Hyperekplexia; Hyperekplexia 2 [OMIM 138492]
—
GLUD1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Hyperinsulinism-hyperammonemia syndrome [OMIM 138130]
—
GOT2
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Developmental and epileptic encephalopathy 82 [OMIM 138150]
—
GSS
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset GTM Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Glutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency [OMIM 601002]
—
GUSB
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Mucopolysaccharidosis VII [OMIM 611499]
—
HADH
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 [OMIM 601609]
—
HADHA
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Fatty liver, acute, of pregnancy; HELLP syndrome, maternal, of pregnancy; LCHAD deficiency; Mitochondrial trifunctional protein deficiency [OMIM 600890]
—
HADHB
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Trifunctional protein deficiency [OMIM 143450]
—
HAX1
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Severe congenital neutropenia (Kostmann) Autosomal recessive; Neutropenia, severe congenital 3, autosomal recessive [OMIM 605998]
—
HBA1
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); α-thalassemia Large deletions common; Erythrocytosis 7; Heinz body anemias, alpha-; Hemoglobin H disease, nondeletional; Methemoglobinemia, alpha type; Thalassemias, alpha- [OMIM 141800]
—
HBA2
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); α-thalassemia Large deletions common; Erythrocytosis 7; Heinz body anemia; Hemoglobin H disease, deletional and nondeletional; Thalassemia, alpha- [OMIM 141850]
—
HBB
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); β-thalassemia, sickle cell disease Common point mutations; {Malaria, resistance to}; Delta-beta thalassemia; Erythrocytosis 6; Heinz body anemia; Hereditary persistence of fetal hemoglobin; Methemoglobinemia, beta type; Sickle cell anemia; Thalassemia-beta, dominant inclusion-body; Thalassemia, beta [OMIM 141900]
—
HCFC1
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X-linked intellectual disability with pituitary defects; Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) [OMIM 300019]
—
HESX1
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Pituitary development disorder / septo -optic dysplasia; Growth hormone deficiency with pituitary anomalies; Pituitary hormone deficiency, combined, 5; Septooptic dysplasia [OMIM 601802]
—
HK1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Hemolytic anemia due to hexokinase deficiency; Neurodevelopmental disorder with visual defects and brain anomalies; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79 [OMIM 142600]
—
HLCS
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Holocarboxylase synthetase deficiency [OMIM 609018]
—
HMGCL
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; HMG-CoA lyase deficiency [OMIM 613898]
—
HNF4A
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MODY1 / neonatal hyperinsulinism; {Diabetes mellitus, noninsulin-dependent}; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young; MODY, type I [OMIM 600281]
—
HPD
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Tyrosinemia type III; Hawkinsinuria; Tyrosinemia, type III [OMIM 609695]
—
HSD3B2
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Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed; Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency [OMIM 613890]
—
IDS
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Hunter syndrome (MPS II) ERT available; Hunter syndrome (MPS II) X-linked lysosomal disorder; Mucopolysaccharidosis II [OMIM 300823]
—
IDUA
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Hurler syndrome (MPS I) ERT/HSCT in severe; Hurler syndrome (MPS I) Lysosomal storage disorder; Mucopolysaccharidosis Ih; Mucopolysaccharidosis Ih/s; Mucopolysaccharidosis Is [OMIM 252800]
—
IGLL1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Agammaglobulinemia 2 [OMIM 146770]
—
IL10RA
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VEO -IBD (IL10 signaling defect); Inflammatory bowel disease 28, early onset, autosomal recessive [OMIM 146933]
—
IL10RB
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VEO -IBD; {Hepatitis B virus, susceptibility to}; Inflammatory bowel disease 25, early onset, autosomal recessive [OMIM 123889]
—
IL2RB
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Immunodeficiency with autoimmunity; Immunodeficiency 63 with lymphoproliferation and autoimmunity [OMIM 146710]
—
IL2RG
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X-linked SCID HSCT/gene therapy contexts; X-linked SCID (Severe Combined Immunodeficiency) Immune deficiency; Combined immunodeficiency, X-linked, moderate; Severe combined immunodeficiency, X-linked [OMIM 308380]
—
IL7R
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type [OMIM 146661]
—
INS
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Neonatal diabetes / MODY; Diabetes mellitus, insulin-dependent, 2; Diabetes mellitus, permanent neonatal 4; Hyperproinsulinemia; Maturity-onset diabetes of the young, type 10 [OMIM 176730]
—
IRAK4
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Invasive pyogenic infections (IRAK -4 deficiency); Immunodeficiency 67 [OMIM 606883]
—
ITGB2
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Leukocyte adhesion deficiency type 1; Leukocyte adhesion deficiency [OMIM 600065]
—
IVD
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Isovaleric acidemia [OMIM 607036]
—
KCNH2
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Long QT syndrome type 2 Cardiac channelopathy; Long QT syndrome (types 1 –3, KCNE1/2, calmodulinopathies) Primary channelopathy; gene-specific management; {Long QT syndrome 2, acquired, susceptibility to}; Long QT syndrome 2; Short QT syndrome 1 [OMIM 152427]
—
KCNJ1
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Bartter syndrome, type 2 [OMIM 600359]
—
KCNJ11
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Congenital hyperinsulinism / neonatal diabetes (rare); {Diabetes mellitus, type 2, susceptibility to}; Diabetes mellitus, transient neonatal 3; Diabetes, permanent neonatal 2, with or without neurologic features; Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young, type 13 [OMIM 600937]
—
KCNQ1
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Long QT syndrome type 1; Long QT syndrome (types 1 –3, KCNE1/2, calmodulinopathies) Primary channelopathy; gene-specific management; {Long QT syndrome 1, acquired, susceptibility to}; Atrial fibrillation, familial, 3; Jervell and Lange-Nielsen syndrome; Long QT syndrome 1; Short QT syndrome 2 [OMIM 607542]
—
KCNQ2
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Developmental and epileptic encephalopathy 7; Myokymia; Seizures, benign neonatal, 1 [OMIM 602235]
—
KCNT1
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Developmental and epileptic encephalopathy 14; Epilepsy nocturnal frontal lobe, 5 [OMIM 608167]
—
LAMTOR2
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; :Immunodeficiency due to defect in MAPBP-interacting protein [OMIM 610389]
—
LDLR
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Familial hypercholesterolemia Lipid -lowering therapy available; Familial hypercholesterolemia (atherosclerotic cardiovascular disease risk) Targetable (lipid -lowering: statins, ezetimibe, PCSK9/ANGPTL3 inhibitors); Hypercholesterolemia, familial, 1; LDL cholesterol level QTL2 [OMIM 606945]
—
LHX3
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Pituitary hormone deficiency, combined, 3 [OMIM 600577]
—
LHX4
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Pituitary hormone deficiency, combined, 4 [OMIM 602146]
—
LIPA
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LAL-D (lysosomal acid lipase deficiency) Enzyme replacement therapy; Cholesteryl ester storage disease; Wolman disease [OMIM 613497]
—
LMBRD1
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cblF-type combined cobalamin disorder; Methylmalonic aciduria and homocystinuria, cblF type [OMIM 612625]
—
LPL
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; [High density lipoprotein cholesterol level QTL 11]; Combined hyperlipidemia, familial; Lipoprotein lipase deficiency [OMIM 609708]
—
LRBA
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Immunodeficiency, common variable, 8, with autoimmunity [OMIM 606453]
—
LRP4
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Congenital myasthenic syndrome (MuSK pathway); ?Myasthenic syndrome, congenital, 17; Cenani-Lenz syndactyly syndrome; Sclerosteosis 2 [OMIM 604270]
—
LYST
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Chediak –Higashi syndrome; Chediak-Higashi syndrome [OMIM 606897]
—
MAD2L2
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EME1/MAD2L2 (Shieldin) — DNA repair defect PARP sensitivity context (research/limited); ?Fanconi anemia, complementation group V [OMIM 604094]
—
MAGED2
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Bartter syndrome, type 5, antenatal, transient [OMIM 300470]
—
MAGT1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Congenital disorder of glycosylation, type Icc; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia [OMIM 300715]
—
MAT1A
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency; Methionine adenosyltransferase deficiency, autosomal recessive [OMIM 610550]
—
MC2R
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Familial glucocorticoid deficiency type 1; Glucocorticoid deficiency, due to ACTH unresponsiveness [OMIM 607397]
—
MCCC1
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; 3-Methylcrotonyl-CoA carboxylase 1 deficiency [OMIM 609010]
—
MCCC2
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; 3-Methylcrotonyl-CoA carboxylase 2 deficiency [OMIM 609014]
—
MLYCD
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Malonyl-CoA decarboxylase deficiency [OMIM 606761]
—
MMAA
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Methylmalonic aciduria, vitamin B12-responsive, cblA type [OMIM 607481]
—
MMAB
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Methylmalonic aciduria, vitamin B12-responsive, cblB type [OMIM 607568]
—
MMACHC
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Methylmalonic aciduria and homocystinuria cblC type Cobalamin metabolism defect; Methylmalonic aciduria and homocystinuria, cblC type [OMIM 609831]
—
MMADHC
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Homocystinuria, cblD type, variant 1; Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type, variant 2 [OMIM 611935]
—
MMUT
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Methylmalonic aciduria, mut(0) type [OMIM 609058]
—
MOCS1
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Molybdenum cofactor deficiency cPMP therapy (type A); Molybdenum cofactor deficiency A [OMIM 603707]
—
MPI
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Congenital disorder of glycosylation (MPI -CDG) Mannose therapy; Congenital disorder of glycosylation, type Ib [OMIM 154550]
—
MRAP
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Familial glucocorticoid deficiency type 2; Glucocorticoid deficiency 2 [OMIM 609196]
—
MTR
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); {Neural tube defects, folate-sensitive, susceptibility to}; Homocystinuria- megaloblastic anemia, cblG complementation type [OMIM 156570]
—
MTRR
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); {Neural tube defects, folate-sensitive, susceptibility to}; Homocystinuria- megaloblastic anemia, cbl E type [OMIM 602568]
—
MUSK
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Fetal akinesia deformation sequence 1; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency [OMIM 601296]
—
MVK
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Mevalonate kinase deficiency (HIDS/MKD); Hyper-IgD syndrome; Mevalonic aciduria; Porokeratosis 3, multiple types [OMIM 251170]
—
MYO9A
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Congenital myasthenic syndrome (rare); Myasthenic syndrome, congenital, 24, presynaptic [OMIM 604875]
—
MYSM1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Bone marrow failure syndrome 4 [OMIM 612176]
—
NADK2
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; 2,4-dienoyl-CoA reductase deficiency [OMIM 615787]
—
NAGLU
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Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; ?Charcot-Marie-Tooth disease, axonal, type 2V; Mucopolysaccharidosis type IIIB (Sanfilippo B) [OMIM 609701]
—
NAGS
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Urea cycle disorder (hyperammonemia) Protein restriction; nitrogen-scavenging therapy; N-acetylglutamate synthase deficiency [OMIM 608300]
—
NBN
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Nijmegen breakage syndrome (biallelic); Breast/prostate cancer (moderate, founder-dependent); NBS if biallelic c.657_661del founder; part of MRN complex; Breast/prostate (moderate; founder -dependent); Nijmegen breakage syndrome if biallelic MRN complex; c.657_661del founder; Nijmegen breakage syndrome DNA repair disorder; Aplastic anemia; Leukemia, acute lymphoblastic; Nijmegen breakage syndrome [OMIM 602667]
—
NCF1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Chronic granulomatous disease 1, autosomal recessive [OMIM 608512]
—
NCF2
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Chronic granulomatous disease 2, autosomal recessive [OMIM 608515]
—
NCF4
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Chronic granulomatous disease 3, autosomal recessive [OMIM 601488]
—
NEUROG3
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Permanent neonatal diabetes with enteric anendocrinosis; Diarrhea 4, malabsorptive, congenital [OMIM 604882]
—
NHEJ1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [OMIM 611290]
—
NNT
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Glucocorticoid deficiency with adrenal crisis; Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency [OMIM 607878]
—
NPC1
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Niemann –Pick disease type C1; Niemann -Pick disease type C1 Cholesterol trafficking defect; Niemann-Pick disease, type C1; Niemann-Pick disease, type D [OMIM 607623]
—
NPC2
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Niemann –Pick disease type C2; Niemann -Pick disease type; Niemann-pick disease, type C2 [OMIM 601015]
—
NR3C2
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Gordon syndrome/pseudohypoaldosteronism type 1; Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy; Pseudohypoaldosteronism type I, autosomal dominant [OMIM 600983]
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NR5A1
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Sex development/endocrine disorder DSD evaluation and endocrine replacement as needed; 46, XX sex reversal 4; 46XY sex reversal 3; Adrenocortical insufficiency; Premature ovarian failure 7; Spermatogenic failure 8 [OMIM 184757]
—
OAT
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Gyrate atrophy; Gyrate atrophy of choroid and retina with or without ornithinemia [OMIM 613349]
—
OPA3
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3-MGA with optic atrophy; 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract [OMIM 606580]
—
OTC
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Urea cycle disorder (hyperammonemia) Protein restriction; nitrogen-scavenging therapy; Ornithine transcarbamylase deficiency Urea cycle disorder; Ornithine transcarbamylase deficiency [OMIM 300461]
—
OXCT1
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Fatty -acid oxidation / organic acidemia Metabolic crisis risk; dietary/avoid fasting management; Succinyl CoA:3-oxoacid CoA transferase deficiency [OMIM 601424]
—
PAH
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Phenylketonuria BH4-responsive subset; Phenylketonuria (PKU) Newborn screening; [Hyperphenylalaninemia, non-PKU mild]; Phenylketonuria [OMIM 612349]
—
PAX8
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Congenital hypothyroidism / thyroid development or hormonogenesis Thyroid dysgenesis or dyshormonogenesis gene; PAX8-PPARG THCA TCGA_RNA-Seq — Known breakpoint exon(s): 1,7,8,9,10; Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia [OMIM 167415]
—
PCBD1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Hyperphenylalaninemia, BH4-deficient, D [OMIM 126090]
—
PCCA
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Propionic acidemia (alpha subunit); Propionicacidemia [OMIM 232000]
—
PCCB
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Propionic acidemia (beta subunit); Propionicacidemia [OMIM 232050]
—
PDHA1
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PDH complex deficiency (E1 alpha) Ketogenic diet/Thiamine; Pyruvate dehydrogenase E1-alpha deficiency [OMIM 300502]
—
PDHB
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PDH complex deficiency (E1 beta); Pyruvate dehydrogenase E1-beta deficiency [OMIM 179060]
—
PDHX
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PDH complex deficiency (E3 -binding); Lacticacidemia due to PDX1 deficiency [OMIM 608769]
—
PDSS1
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; Coenzyme Q10 deficiency, primary, 2 [OMIM 607429]
—
PDSS2
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Primary coenzyme Q10 deficiency Trial of CoQ10 supplementation often considered; Coenzyme Q10 deficiency, primary, 3 [OMIM 610564]
—
PGM1
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PGM1 -CDG / glycogen storage overlap Galactose therapy benefit; Congenital disorder of glycosylation, type It [OMIM 171900]
—
PGM3
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PGM3 -congenital disorder of glycosylation with immunodeficiency; Immunodeficiency 23 [OMIM 172100]
—
PHEX
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X-linked hypophosphatemia FGF23 pathway; burosumab therapy; Hypophosphatemic rickets, X-linked dominant [OMIM 300550]
—
PHGDH
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency [OMIM 606879]
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PHKA1
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Muscle glycogenosis [OMIM 311870]
—
PHKA2
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Glycogen storage disease IX (liver); Glycogen storage disease, type IXa1; Glycogen storage disease, type IXa2 [OMIM 300798]
—
PHKB
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GSD IX (liver/muscle); Phosphorylase kinase deficiency of liver and muscle, autosomal recessive [OMIM 172490]
—
PHKG2
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GSD IX (liver); Glycogen storage disease IXc [OMIM 172471]
—
PIK3R1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; ?Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36; SHORT syndrome [OMIM 171833]
—
PKLR
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Adenosine triphosphate, elevated, of erythrocytes; Pyruvate kinase deficiency [OMIM 609712]
—
PLPBP
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Vitamin B6 -dependent epilepsy; Epilepsy, early-onset, vitamin B6-dependent [OMIM 604436]
—
PNPO
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Pyridoxamine 5' -phosphate oxidase deficiency Vitamin B6 responsive; Pyridoxamine 5'-phosphate oxidase deficiency [OMIM 603287]
—
POMC
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; {Obesity, early-onset, susceptibility to}; Obesity, adrenal insufficiency, and red hair due to POMC deficiency [OMIM 176830]
—
POR
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P450 oxidoreductase deficiency; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome P450 oxidoreductase [OMIM 124015]
—
POU1F1
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Pituitary hormone deficiency, combined, 1 [OMIM 173110]
—
PREPL
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Myasthenic syndrome, congenital, 22 [OMIM 609557]
—
PRF1
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Familial hemophagocytic lymphohistiocytosis type 2; Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2; Lymphoma, non-Hodgkin [OMIM 170280]
—
PRKDC
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SCID (DNA -PKcs); Immunodeficiency 26, with or without neurologic abnormalities [OMIM 600899]
—
PROP1
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Pituitary hormone deficiency, combined, 2 [OMIM 601538]
—
PSAT1
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Serine biosynthesis defect L-serine supplementation; ?Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 [OMIM 610936]
—
PSPH
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Serine biosynthesis defect; Phosphoserine phosphatase deficiency [OMIM 172480]
—
PTF1A
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Pancreatic agenesis 2; Pancreatic and cerebellar agenesis [OMIM 607194]
—
PTS
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BH4 deficiency (neurotransmitter defect); Hyperphenylalaninemia, BH4-deficient, A [OMIM 612719]
—
PYGL
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Glycogen storage disease VI [OMIM 613741]
—
QDPR
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BH4 deficiency; Hyperphenylalaninemia, BH4-deficient, C [OMIM 612676]
—
RAB27A
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Griscelli syndrome, type 2 [OMIM 603868]
—
RAG1
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Combined cellular and humoral immune defects with granulomas; Omenn syndrome; Severe combined immunodeficiency, B cell-negative [OMIM 179615]
—
RAG2
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Combined cellular and humoral immune defects with granulomas; Omenn syndrome; Severe combined immunodeficiency, B cell-negative [OMIM 179616]
—
RAPSN
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Fetal akinesia deformation sequence 2; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency [OMIM 601592]
—
RFWD3
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Fanconi anemia / DNA interstrand crosslink repair defect Chromosomal breakage testing; HSCT considerations; ?Fanconi anemia, complementation group W [OMIM 614151]
—
RFXANK
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Bare lymphocyte syndrome (MHC II deficiency); MHC class II deficiency, complementation group B [OMIM 603200]
—
RPE65
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Leber congenital amaurosis Gene therapy available (voretigene); Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement [OMIM 180069]
—
RPL11
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 7 [OMIM 604175]
—
RPL15
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; ?Diamond-Blackfan anemia 12 [OMIM 604174]
—
RPL18
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; ?Diamond-Blackfan anemia 18 [OMIM 604179]
—
RPL26
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; ?Diamond-Blackfan anemia 11 [OMIM 603704]
—
RPL27
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; ?Diamond-Blackfan anemia 16 [OMIM 607526]
—
RPL35
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; ?Diamond-Blackfan anemia 19 [OMIM 618315]
—
RPL35A
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 5 [OMIM 180468]
—
RPL5
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 6 [OMIM 603634]
—
RPS10
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 9 [OMIM 603632]
—
RPS15A
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; ?Diamond-Blackfan anemia 20 [OMIM 603674]
—
RPS17
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 4 [OMIM 180472]
—
RPS24
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-blackfan anemia 3 [OMIM 602412]
—
RPS26
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 10 [OMIM 603701]
—
RPS27
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; ?Diamond-Blackfan anemia 17 [OMIM 603702]
—
RPS28
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond Blackfan anemia 15 with mandibulofacial dysostosis [OMIM 603685]
—
RPS29
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 13 [OMIM 603633]
—
RPS7
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Inherited bone marrow failure / neutropenia / Diamond –Blackfan spectrum Consider HSCT; malignancy risk varies; Diamond-Blackfan anemia 8 [OMIM 603658]
—
RYR2
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Catecholaminergic polymorphic VT Beta -blockers; ICD in select; Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic, 1 [OMIM 180902]
—
SCN1A
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A; Migraine, familial hemiplegic, 3 [OMIM 182389]
—
SCN2A
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Developmental and epileptic encephalopathy 11; Episodic ataxia, type 9; Seizures, benign familial infantile, 3 [OMIM 182390]
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SCN3A
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Developmental and epileptic encephalopathy 62; Epilepsy, familial focal, with variable foci 4 [OMIM 182391]
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SCN4A
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Hyperkalemic periodic paralysis, type 2; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, congenital, 16; Myotonia congenita, atypical, acetazolamide-responsive; Paramyotonia congenita [OMIM 603967]
—
SCN5A
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; Brugada syndrome / progressive cardiac conduction disease Primary channelopathy; gene-specific management; Channelopathy; SCN5A major gene; {Sudden infant death syndrome, susceptibility to}; Atrial fibrillation, familial, 10; Brugada syndrome 1; Cardiomyopathy, dilated, 1E; Heart block, nonprogressive; Heart block, progressive, type IA; Long QT syndrome 3; Sick sinus syndrome 1; Ventricular fibrillation, familial, 1 [OMIM 600163]
—
SCN8A
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; ?Myoclonus, familial, 2; Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy 13; Seizures, benign familial infantile, 5 [OMIM 600702]
—
SCNN1A
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ENaC — Pseudohypoaldosteronism type 1; ?Liddle syndrome 3; Bronchiectasis with or without elevated sweat chloride 2; Pseudohypoaldosteronism, type I [OMIM 600228]
—
SCNN1B
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Pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type I [OMIM 600760]
—
SCNN1G
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Pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type I [OMIM 600761]
—
SGSH
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Sanfilippo syndrome A (MPS IIIA); Mucopolysaccharidosis type IIIA (Sanfilippo A) [OMIM 605270]
—
SH2D1A
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Lymphoproliferative syndrome, X-linked, 1 [OMIM 300490]
—
SI
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Sucrase –isomaltase deficiency; Sucrase-isomaltase deficiency, congenital [OMIM 609845]
—
SLC12A1
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Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Bartter syndrome, type 1 [OMIM 600839]
—
SLC16A1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7; Monocarboxylate transporter 1 deficiency [OMIM 600682]
—
SLC18A2
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); ?Parkinsonism-dystonia, infantile, 2 [OMIM 193001]
—
SLC18A3
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Myasthenic syndrome, congenital, 21, presynaptic [OMIM 600336]
—
SLC19A2
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Thiamine-responsive megaloblastic anemia syndrome [OMIM 603941]
—
SLC19A3
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine- responsive encephalopathy type 2) [OMIM 606152]
—
SLC22A5
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Primary systemic carnitine deficiency Transporter defect; Primary carnitine deficiency Treatable metabolic disorder; Carnitine deficiency, systemic primary [OMIM 603377]
—
SLC25A1
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Combined D-2- and L-2-hydroxyglutaric aciduria; Myasthenic syndrome, congenital, 23, presynaptic [OMIM 190315]
—
SLC25A13
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset [OMIM 603859]
—
SLC25A15
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome [OMIM 603861]
—
SLC25A19
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) [OMIM 606521]
—
SLC25A20
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Carnitine-acylcarnitine translocase deficiency [OMIM 613698]
—
SLC26A3
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Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Diarrhea 1, secretory chloride, congenital [OMIM 126650]
—
SLC2A1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; {Epilepsy, idiopathic generalized, susceptibility to, 12}; Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2, childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects [OMIM 138140]
—
SLC34A3
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Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Hypophosphatemic rickets with hypercalciuria [OMIM 609826]
—
SLC37A4
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Glycogen storage disease Ib; Glycogen storage disease Ic [OMIM 602671]
—
SLC39A8
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Congenital disorder of glycosylation, type IIn [OMIM 608732]
—
SLC46A1
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Folate malabsorption, hereditary [OMIM 611672]
—
SLC52A2
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; Brown-Vialetto-Van Laere syndrome 2 [OMIM 607882]
—
SLC52A3
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Transport/vitamin/mitochondrial cofactor disorder Supplement/transport strategy where applicable; ?Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 [OMIM 613350]
—
SLC5A1
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Monogenic metabolic disorder (carbohydrate/lipid/folate/energy) Dietary and cofactor-responsive therapies in subset; Glucose/galactose malabsorption [OMIM 182380]
—
SLC5A6
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Neurodegeneration, infantile-onset, biotin-responsive [OMIM 604024]
—
SLC6A5
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Hyperekplexia 3 [OMIM 604159]
—
SLC6A8
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Cerebral creatine deficiency syndrome 1 [OMIM 300036]
—
SLC7A7
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Monogenic metabolic/endocrine/immunologic disorder (specific condition varies); Lysinuric protein intolerance [OMIM 603593]
—
SLC9A3
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Renal tubulopathy / nephrogenic diabetes insipidus / Alport spectrum Electrolyte/acid –base disturbance; kidney surveillance; Diarrhea 8, secretory sodium, congenital [OMIM 182307]
—
SLX4
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Fanconi anemia subtype P; Fanconi anemia, complementation group P [OMIM 613278]
—
SMN1
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Spinal muscular atrophy Gene therapy/SMN2 splicing modulators; Spinal muscular atrophy (SMA) SMN2 is a disease modifier; Spinal muscular atrophy-1; Spinal muscular atrophy-2; Spinal muscular atrophy-3; Spinal muscular atrophy-4 [OMIM 600354]
—
SMPD1
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Lysosomal storage disorder / glycosphingolipidosis / mucopolysaccharidosis Lysosomal enzyme or cofactor; Niemann -Pick disease types A and B Acid sphingomyelinase deficiency; Niemann-Pick disease, type A; Niemann-Pick disease, type B [OMIM 607608]
—
SNAP25
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Neuromuscular/channelopathy (epilepsy/NMJ/cardiac) Gene -specific management; anesthetic precautions for; ?Myasthenic syndrome, congenital, 18 [OMIM 600322]
—
SPR
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Sepiapterin reductase deficiency; Dystonia, dopa-responsive, due to sepiapterin reductase deficiency [OMIM 182125]
—
SRP54
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Neutropenia, severe congenital, 8, autosomal dominant [OMIM 604857]
—
STAR
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Lipoid congenital adrenal hyperplasia; Lipoid adrenal hyperplasia [OMIM 600617]
—
STX11
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Familial hemophagocytic lymphohistiocytosis type 4; Hemophagocytic lymphohistiocytosis, familial, 4 [OMIM 605014]
—
STXBP2
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Familial HLH type 5; Hemophagocytic lymphohistiocytosis, familial, 5 [OMIM 601717]
—
TAT
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Tyrosinemia type II TAZ Barth syndrome; Tyrosinemia, type II [OMIM 613018]
—
TBX19
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Monogenic endocrine disorder (CAH/growth/ACTH axis/thyroid – adrenal –gonadal) Steroidogenesis or pituitary – adrenal –growth axis; Adrenocorticotropic hormone deficiency [OMIM 604614]
—
TCN2
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Transcobalamin II deficiency; Transcobalamin II deficiency [OMIM 613441]
—
TH
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TH deficiency (dopamine synthesis); Tyrosine hydroxylase deficiency Neurological disorder, treatable; Segawa syndrome, recessive [OMIM 191290]
—
TNFRSF11A
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Familial expansile osteolysis / osteoclast -poor osteopetrosis; {Paget disease of bone 2, early-onset}; Osteolysis, familial expansile; Osteopetrosis, autosomal recessive 7 [OMIM 603499]
—
TPK1
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Thiamine pyrophosphokinase deficiency; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) [OMIM 606370]
—
TSC2
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Tuberous sclerosis complex; ?Focal cortical dysplasia, type II, somatic; Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2 [OMIM 191092]
—
TSR2
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Bone marrow failure (ribosomopathy); ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis [OMIM 300945]
—
TTC7A
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Multisystem disorder with intestinal atresia/immune defects; Gastrointestinal defects and immunodeficiency syndrome [OMIM 609332]
—
UBE2T
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Fanconi anemia subtype T; Fanconi anemia, complementation group T [OMIM 610538]
—
UCP2
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Mitochondrial dysfunction (modifying gene; evidence limited); {Obesity, susceptibility to, BMIQ4} [OMIM 601693]
—
UNC13D
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Familial HLH type 3; Hemophagocytic lymphohistiocytosis, familial, 3 [OMIM 608897]
—
VAMP1
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Congenital myasthenic syndrome (rare); Myasthenic syndrome, congenital, 25; Spastic ataxia 1, autosomal dominant [OMIM 185880]
—
VDR
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Vitamin D –dependent rickets type 2; Rickets, vitamin D-resistant, type IIA [OMIM 601769]
—
VPS45
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Severe congenital neutropenia with myelofibrosis; Neutropenia, severe congenital, 5, autosomal recessive [OMIM 610035]
—
WAS
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Wiskott –Aldrich syndrome; Neutropenia, severe congenital, X-linked; Thrombocytopenia, X- linked; Thrombocytopenia, X-linked, intermittent; Wiskott-Aldrich syndrome [OMIM 300392]
—
WIPF1
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Wiskott –Aldrich –like syndrome; Wiskott-Aldrich syndrome 2 [OMIM 602357]
—
XIAP
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X-linked lymphoproliferative disease type 2; Lymphoproliferative syndrome, X-linked, 2 [OMIM 300079]
—
ZAP70
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Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Autoimmune disease, multisystem, infantile-onset, 2; Immunodeficiency 48 [OMIM 176947]
—
ABCC9
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Cantú syndrome; DCM/arrhythmia susceptibility KATP channel (SUR2); ?Atrial fibrillation, familial, 12; Cardiomyopathy, dilated, 1O; Hypertrichotic osteochondrodysplasia [OMIM 601439]
—
ABCG5
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Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; Sitosterolemia 2 [OMIM 605459]
—
ABCG8
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Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; {Gallbladder disease 4}; Sitosterolemia 1 [OMIM 605460]
—
ACTA1
Cardio Pro, ClinEX Pro
Skeletal myopathy with possible cardiomyopathy Skeletal muscle actin; cardiac involvement reported (rare); ?Myopathy, scapulohumeroperoneal; Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3, autosomal dominant or recessive [OMIM 102610]
—
ACTA2
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Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Aortic aneurysm, familial thoracic 6; Moyamoya disease 5; Multisystemic smooth muscle dysfunction syndrome [OMIM 102620]
—
ACTC1
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Atrial septal defect 5; Cardiomyopathy, dilated, 1R; Cardiomyopathy, hypertrophic, 11; Left ventricular noncompaction 4 [OMIM 102540]
—
ACTN2
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1AA, with or without LVNC; Cardiomyopathy, hypertrophic, 23, with or without LVNC; Myopathy, congenital with structured cores and Z-line abnormalities; Myopathy, distal, 6, adult onset [OMIM 102573]
—
AKAP9
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Long QT syndrome (types 1 –3, KCNE1/2, calmodulinopathies) Primary channelopathy; gene-specific management; AKAP9-AKAP9 , AKAP9-BRAF , AKAP9-RUNX1 , SND1-AKAP9 BRCA , KIRPChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 8,9; ?Long QT syndrome 11 [OMIM 604001]
—
ALMS1
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Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Alstrom syndrome [OMIM 606844]
—
ALPK3
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Pediatric/early -onset cardiomyopathy (HCM/DCM) High -evidence gene in pediatric CM cohorts; Cardiomyopathy, familial hypertrophic 27 [OMIM 617608]
—
ANK2
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Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Cardiac arrhythmia, ankyrin-B-related; Long QT syndrome 4 [OMIM 106410]
—
ANKRD1
Cardio Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered
—
APOA4
Cardio Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia
—
APOA5
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Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; {Hypertriglyceridemia, susceptibility to}; Hyperchylomicronemia, late-onset [OMIM 606368]
—
APOC2
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Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; Hyperlipoproteinemia, type Ib [OMIM 608083]
—
APOE
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Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; Late -onset Alzheimer disease; dyslipidemia ε2, ε3, ε4 alleles have different risk; {?Alzheimer disease, protection against, due to APOE3- Christchurch}; {?Macular degeneration, age-related}; {Coronary artery disease, severe, susceptibility to}; Alzheimer disease 2; Hyperlipoproteinemia, type III; Lipoprotein glomerulopathy; Sea-blue histiocyte disease [OMIM 107741]
—
BAG3
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6 [OMIM 603883]
—
BGN
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Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Meester-Loeys syndrome; Spondyloepimetaphyseal dysplasia, X-linked [OMIM 301870]
—
CACNA2D1
Cardio Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management
—
CACNB2
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Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Brugada syndrome 4 [OMIM 600003]
—
CALM1
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Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Primary channelopathy; gene-specific management; Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Long QT syndrome 14; Ventricular tachycardia, catecholaminergic polymorphic, 4 [OMIM 114180]
—
CALR3
Cardio Pro
HCM (low/uncertain evidence) Low evidence per ClinGen
—
CASQ2
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Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Ventricular tachycardia, catecholaminergic polymorphic, 2 [OMIM 114251]
—
CAV3
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Arrhythmia susceptibility (LQTS type 9) and myopathy Caveolin -3; channel -interacting protein; Cardiomyopathy, familial hypertrophic; Creatine phosphokinase, elevated serum; Long QT syndrome 9; Myopathy, distal, Tateyama type; Rippling muscle disease 2 [OMIM 601253]
—
CETP
Cardio Pro, ClinEX Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; [High density lipoprotein cholesterol level QTL 10]; Hyperalphalipoproteinemia [OMIM 118470]
—
COL3A1
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Ehlers-Danlos syndrome, vascular type; Polymicrogyria with or without vascular-type EDS [OMIM 120180]
—
COL5A1
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Ehlers-Danlos syndrome, classic type, 1 [OMIM 120215]
—
COL5A2
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Ehlers-Danlos syndrome, classic type, 2 [OMIM 120190]
—
COL9A1
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; ?Epiphyseal dysplasia, multiple, 6; Stickler syndrome, type IV [OMIM 120210]
—
COX15
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy Targetable in some (ERT: GLA/GAA; disease -specific therapies under development) (glycogen/lysosomal/FAO/respiratory chain); Mitochondrial complex IV deficiency, nuclear type 6 [OMIM 603646]
—
CREB3L3
Cardio Pro, ClinEX Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; Hypertriglyceridemia 2 [OMIM 611998]
—
CRELD1
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; {Atrioventricular septal defect, susceptibility to, 2}; Atrioventricular septal defect, partial, with heterotaxy syndrome [OMIM 607170]
—
CRYAB
Cardio Pro, ClinEX Pro
Myofibrillar myopathy with cardiomyopathy (HCM/DCM) Small heat -shock protein; Cardiomyopathy, dilated, 1II; Cataract 16, multiple types; Myopathy, myofibrillar, 2; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related [OMIM 123590]
—
CSRP3
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); ?Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12 [OMIM 600824]
—
CTF1
Cardio Pro
Dilated cardiomyopathy (rare) Cardiotrophin -1 signaling
—
DES
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1; Scapuloperoneal syndrome, neurogenic, Kaeser type [OMIM 125660]
—
DOLK
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Congenital disorder of glycosylation, type Im [OMIM 610746]
—
DPP6
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Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; {Ventricular fibrillation, paroxysmal familial, 2}; Mental retardation, autosomal dominant 33 [OMIM 126141]
—
DSC2
Cardio Pro, ClinEX Pro
Arrhythmogenic cardiomyopathy (ACM/ARVC) Desmosomal/intercalated disc pathway; Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair [OMIM 125645]
—
DSG2
Cardio Pro, ClinEX Pro
Arrhythmogenic cardiomyopathy (ACM/ARVC) Desmosomal/intercalated disc pathway; Arrhythmogenic right ventricular dysplasia 10; Cardiomyopathy, dilated, 1BB [OMIM 125671]
—
DTNA
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Left ventricular noncompaction 1, with or without congenital heart defects [OMIM 601239]
—
EFEMP2
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Cutis laxa, autosomal recessive, type IB [OMIM 604633]
—
ELN
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Cutis laxa, autosomal dominant; Supravalvar aortic stenosis [OMIM 130160]
—
EMD
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Emery-Dreifuss muscular dystrophy 1, X-linked [OMIM 300384]
—
EYA4
Cardio Pro, ClinEX Pro
Sensorineural deafness with dilated cardiomyopathy Syndromic (DFNA10 + DCM); ?Cardiomyopathy, dilated, 1J; Deafness, autosomal dominant 10 [OMIM 603550]
—
FBN1
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Acromicric dysplasia; Ectopia lentis, familial; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant [OMIM 134797]
—
FBN2
Cardio Pro, ClinEX Pro
Congenital contractural arachnodactyly; aortic dilation (variable) Aortopathy surveillance individualized; Contractural arachnodactyly, congenital; Macular degeneration, early-onset [OMIM 612570]
—
FHL1
Cardio Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; ?Uruguay faciocardiomusculoskeletal syndrome; Emery-Dreifuss muscular dystrophy 6, X-linked; Myopathy, X-linked, with postural muscle atrophy; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset; Reducing body myopathy, X-linked 1b, with late childhood or adult onset; Scapuloperoneal myopathy, X-linked dominant [OMIM 300163]
—
FHL2
Cardio Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance
—
FKRP
Cardio Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 5 [OMIM 606596]
—
FKTN
Cardio Pro, IVF Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Congenital muscular dystrophies (WWS, MDC1C) Defect in dystroglycan glycosylation; Cardiomyopathy, dilated, 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Muscular dystrophy- dystroglycanopathy (congenital without mental retardation), type B, 4; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 [OMIM 607440]
—
FLNA
Cardio Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; ?FG syndrome 2; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal; Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia [OMIM 300017]
—
FLNC
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4; Myopathy, myofibrillar, 5 [OMIM 102565]
—
FOXE3
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; {Aortic aneurysm, familial thoracic 11, susceptibility to}; Anterior segment dysgenesis 2, multiple subtypes; Cataract 34, multiple types [OMIM 601094]
—
FXN
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Friedreich ataxia; Friedreich ataxia with retained reflexes [OMIM 606829]
—
GATAD1
Cardio Pro, ClinEX Pro
Autosomal recessive dilated cardiomyopathy (rare) Evidence limited; ClinGen curated; ?Cardiomyopathy, dilated, 2B [OMIM 614518]
—
GCKR
Cardio Pro, ClinEX Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; [Fasting plasma glucose level QTL 5] [OMIM 600842]
—
GJA5
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Atrial fibrillation, familial, 11; Atrial standstill, digenic (GJA5/SCN5A) [OMIM 121013]
—
GPD1L
Cardio Pro, ClinEX Pro
Brugada syndrome / progressive cardiac conduction disease Channelopathy; SCN5A major gene; Brugada syndrome 2 [OMIM 611778]
—
GPIHBP1
Cardio Pro, ClinEX Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; Hyperlipoproteinemia, type 1D [OMIM 612757]
—
HCN4
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Brugada syndrome 8; Sick sinus syndrome 2 [OMIM 605206]
—
HFE
Cardio Pro, IVF Pro, ClinEX Pro
Iron overload cardiomyopathy (hereditary hemochromatosis) Treatable with iron removal; Hereditary hemochromatosis type 1 C282Y, H63D variants HFE2 (Alias HJV) Juvenile hemochromatosis (type 2) Iron overload; [Transferrin serum level QTL2]; {Alzheimer disease, susceptibility to}; {Microvascular complications of diabetes 7}; {Porphyria cutanea tarda, susceptibility to}; {Porphyria variegata, susceptibility to}; Hemochromatosis [OMIM 613609]
—
HSPB8
Cardio Pro, ClinEX Pro
Myofibrillar myopathy with cardiomyopathy Chaperone protein; Charcot-Marie-Tooth disease, axonal, type 2L; Neuronopathy, distal hereditary motor, type IIA [OMIM 608014]
—
ILK
Cardio Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered
—
JAG1
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; ?Deafness, congenital heart defects, and posterior embryotoxon; Alagille syndrome 1; Tetralogy of Fallot [OMIM 601920]
—
JPH2
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, hypertrophic, 17 [OMIM 605267]
—
JUP
Cardio Pro, ClinEX Pro
Arrhythmogenic cardiomyopathy (ACM/ARVC) Desmosomal/intercalated disc pathway; Arrhythmogenic right ventricular dysplasia 12; Naxos disease [OMIM 173325]
—
KCNA5
Cardio Pro, ClinEX Pro
Atrial fibrillation predisposition; pulmonary arterial hypertension Atrial channelopathy; Atrial fibrillation, familial, 7 [OMIM 176267]
—
KCND3
Cardio Pro, ClinEX Pro
Brugada syndrome / progressive cardiac conduction disease Channelopathy; SCN5A major gene; Brugada syndrome 9; Spinocerebellar ataxia 19 [OMIM 605411]
—
KCNE1
Cardio Pro, ClinEX Pro
Long QT syndrome (types 1 –3, KCNE1/2, calmodulinopathies) Primary channelopathy; gene-specific management; Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 [OMIM 176261]
—
KCNE2
Cardio Pro, ClinEX Pro
Long QT syndrome (types 1 –3, KCNE1/2, calmodulinopathies) Primary channelopathy; gene-specific management; Atrial fibrillation, familial, 4; Long QT syndrome 6 [OMIM 603796]
—
KCNE3
Cardio Pro, ClinEX Pro
Brugada syndrome / progressive cardiac conduction disease Channelopathy; SCN5A major gene; ?Brugada syndrome 6 [OMIM 604433]
—
KCNJ2
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Andersen syndrome; Atrial fibrillation, familial, 9; Short QT syndrome 3 [OMIM 600681]
—
KCNJ5
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Hyperaldosteronism, familial, type III; Long QT syndrome 13 [OMIM 600734]
—
KCNJ8
Cardio Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management
—
KLF10
Cardio Pro
Cardiovascular association not well established
—
LAMA2
Cardio Pro, IVF Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Congenital muscular dystrophy type 1A Recessive; Muscular dystrophy, congenital, merosin deficient or partially deficient; Muscular dystrophy, limb-girdle, autosomal recessive 23 [OMIM 156225]
—
LAMA4
Cardio Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Cardiomyopathy, dilated, 1JJ [OMIM 600133]
—
LAMP2
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Danon disease [OMIM 309060]
—
LDB3
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Left ventricular noncompaction 3; Myopathy, myofibrillar, 4 [OMIM 605906]
—
LDLRAP1
Cardio Pro, ClinEX Pro
Familial hypercholesterolemia (atherosclerotic cardiovascular disease risk) Targetable (lipid -lowering: statins, ezetimibe, PCSK9/ANGPTL3 inhibitors); Hypercholesterolemia, familial, 4 [OMIM 605747]
—
LMF1
Cardio Pro, ClinEX Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; Lipase deficiency, combined [OMIM 611761]
—
LMNA
Cardio Pro, Fusion Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; LMNA-LMNA , LMNA-NTRK1 , LMNA-RAF1 SKCMChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 2; Cardiomyopathy, dilated, 1A; Charcot-Marie-Tooth disease, type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery- Dreifuss muscular dystrophy 3, autosomal recessive; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford progeria; Lipodystrophy, familial partial, type 2; Malouf syndrome; Mandibuloacral dysplasia; Muscular dystrophy, congenital; Restrictive dermopathy, lethal [OMIM 150330]
—
LOX
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Aortic aneurysm, familial thoracic 10 [OMIM 153455]
—
LRRC10
Cardio Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Primary electrical disease; phenotype -dependent management
—
LTBP2
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; ?Weill-Marchesani syndrome 3, recessive; Glaucoma 3, primary congenital, D; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma [OMIM 602091]
—
MAP2K2
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Cardiofaciocutaneous syndrome 4 [OMIM 601263]
—
MAT2A
Cardio Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered
—
MFAP5
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Aortic aneurysm, familial thoracic 9 [OMIM 601103]
—
MIB1
Cardio Pro, ClinEX Pro
LV noncompaction / trabeculation pathway (NOTCH signaling) (rare) Evidence emerging MURC Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Left ventricular noncompaction 7 [OMIM 608677]
—
MYBPC3
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4; Left ventricular noncompaction 10 [OMIM 600958]
—
MYH11
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Aortic aneurysm, familial thoracic 4 [OMIM 160745]
—
MYH6
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); {Sick sinus syndrome 3}; Atrial septal defect 3; Cardiomyopathy, dilated, 1EE; Cardiomyopathy, hypertrophic, 14 [OMIM 160710]
—
MYH7
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5; Myopathy, myosin storage, autosomal dominant; Myopathy, myosin storage, autosomal recessive; Scapuloperoneal syndrome, myopathic type [OMIM 160760]
—
MYL2
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, hypertrophic, 10 [OMIM 160781]
—
MYL3
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, hypertrophic, 8 [OMIM 160790]
—
MYLK
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome [OMIM 600922]
—
MYLK2
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, hypertrophic, 1, digenic [OMIM 606566]
—
MYO6
Cardio Pro, ClinEX Pro
Hearing loss gene; cardiomyopathy reported (rare/uncertain) Limited evidence; Deafness, autosomal dominant 22; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy; Deafness, autosomal recessive 37 [OMIM 600970]
—
MYOM1
Cardio Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen)
—
MYOZ2
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, hypertrophic, 16 [OMIM 605602]
—
MYPN
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1KK; Cardiomyopathy, familial restrictive, 4; Cardiomyopathy, hypertrophic, 22; Nemaline myopathy 11, autosomal recessive [OMIM 608517]
—
NEBL
Cardio Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen)
—
NEXN
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20 [OMIM 613121]
—
NODAL
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Heterotaxy, visceral, 5 [OMIM 601265]
—
NPPA
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Atrial fibrillation, familial, 6; Atrial standstill 2 [OMIM 108780]
—
OBSCN
Cardio Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered
—
PCSK9
Cardio Pro, ClinEX Pro
Familial hypercholesterolemia (atherosclerotic cardiovascular disease risk) Targetable (lipid -lowering: statins, ezetimibe, PCSK9/ANGPTL3 inhibitors); {Low density lipoprotein cholesterol level QTL 1}; Hypercholesterolemia, familial, 3 [OMIM 607786]
—
PDLIM3
Cardio Pro
Dilated cardiomyopathy Z-line protein (ALP)
—
PKP2
Cardio Pro, ClinEX Pro
Arrhythmogenic cardiomyopathy (ACM/ARVC) Desmosomal/intercalated disc pathway; Arrhythmogenic right ventricular dysplasia 9 [OMIM 602861]
—
PLEKHM2
Cardio Pro
Dilated cardiomyopathy (autophagy pathway) (rare) Evidence emerging
—
PLN
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Primary electrical disease; phenotype -dependent management; Cardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18 [OMIM 172405]
—
PRDM16
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, dilated, 1LL; Left ventricular noncompaction 8 [OMIM 605557]
—
PRKAG2
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndrome [OMIM 602743]
—
PRKAR1A
Cardio Pro, Fusion Pro, ClinEX Pro
Carney complex (cardiac myxomas, arrhythmias) Syndromic; tumor surveillance; PRKAR1A-PRKAR1A , PRKAR1A-RARA , PRKAR1A- RET papillary thyroid carcinomaChiTaRs , mRNA_Sequence , Cosmic — Known breakpoint exon(s): 7; Acrodysostosis 1, with or without hormone resistance; Adrenocortical tumor, somatic; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 [OMIM 188830]
—
PRKG1
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Aortic aneurysm, familial thoracic 8 [OMIM 176894]
—
PSEN1
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; ?Acne inversa, familial, 3; Alzheimer disease, type 3; Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Cardiomyopathy, dilated, 1U; Dementia, frontotemporal; Pick disease [OMIM 104311]
—
PSEN2
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Alzheimer disease-4; Cardiomyopathy, dilated, 1V [OMIM 600759]
—
RANGRF
Cardio Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Channelopathy; SCN5A major gene; Primary electrical disease; phenotype -dependent management
—
RBM20
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, dilated, 1DD [OMIM 613171]
—
SALL4
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Duane-radial ray syndrome; IVIC syndrome [OMIM 607343]
—
SCN1B
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Atrial fibrillation, familial, 13; Brugada syndrome 5; Cardiac conduction defect, nonspecific; Developmental and epileptic encephalopathy 52; Epilepsy, generalized, with febrile seizures plus, type 1 [OMIM 600235]
—
SCN2B
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Atrial fibrillation, familial, 14 [OMIM 601327]
—
SCN3B
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Atrial fibrillation, familial, 16; Brugada syndrome 7 [OMIM 608214]
—
SCN4B
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Atrial fibrillation, familial, 17; Long QT syndrome 10 [OMIM 608256]
—
SCO2
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Mitochondrial complex IV deficiency, nuclear type 2; Myopia 6 [OMIM 604272]
—
SDHA
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Cardiomyopathy, dilated, 1GG; Mitochondrial complex II deficiency, nuclear type 1; Neurodegeneration with ataxia and late-onset optic atrophy; Paragangliomas 5 [OMIM 600857]
—
SGCB
Cardio Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Muscular dystrophy, limb-girdle, autosomal recessive 4 [OMIM 600900]
—
SGCD
Cardio Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Cardiomyopathy, dilated, 1L; Muscular dystrophy, limb-girdle, autosomal recessive 6 [OMIM 601411]
—
SGCG
Cardio Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance; Muscular dystrophy, limb-girdle, autosomal recessive 5 [OMIM 608896]
—
SHOC2
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome-like with loose anagen hair 1 [OMIM 602775]
—
SLC25A4
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 [OMIM 103220]
—
SLC2A10
Cardio Pro, ClinEX Pro
Cardiovascular genetic disorder (evidence varies by gene); Arterial tortuosity syndrome [OMIM 606145]
—
SMAD2
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Congenital heart defects, multiple types, 8, with or without heterotaxy [OMIM 601366]
—
SMAD3
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Loeys-Dietz syndrome 3 [OMIM 603109]
—
SNTA1
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Long QT syndrome 12 [OMIM 601017]
—
SREBF2
Cardio Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia
—
TBX20
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Atrial septal defect 4 [OMIM 606061]
—
TBX3
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Ulnar-mammary syndrome [OMIM 601621]
—
TBX5
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Holt-Oram syndrome [OMIM 601620]
—
TCAP
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, hypertrophic, 25; Muscular dystrophy, limb-girdle, autosomal recessive 7 [OMIM 604488]
—
TGFB2
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Loeys-Dietz syndrome 4 [OMIM 190220]
—
TGFB3
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5 [OMIM 190230]
—
TGFBR1
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; {Multiple self-healing squamous epithelioma, susceptibility to}; Loeys-Dietz syndrome 1 [OMIM 190181]
—
TGFBR2
Cardio Pro, ClinEX Pro
Heritable thoracic aortic disease / connective tissue disorder (Marfan/Loeys -Dietz/EDS spectrum) Aortopathy gene; imaging & blood pressure management per ACC/AHA 2022; Colorectal cancer, hereditary nonpolyposis, type 6; Esophageal cancer, somatic; Loeys-Dietz syndrome 2 [OMIM 190182]
—
TMEM43
Cardio Pro, ClinEX Pro
Arrhythmogenic cardiomyopathy (ACM/ARVC) Desmosomal/intercalated disc pathway; Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD [OMIM 612048]
—
TMPO
Cardio Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered
—
TNNC1
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13 [OMIM 191040]
—
TNNC2
Cardio Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen)
—
TNNI3
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); ?Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF; Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7 [OMIM 191044]
—
TNNI3K
Cardio Pro, ClinEX Pro
Cardiovascular genetic disorder (evidence varies by gene); Cardiac conduction disease with or without dilated cardiomyopathy [OMIM 613932]
—
TNNT2
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3; Cardiomyopathy, hypertrophic, 2; Left ventricular noncompaction 6 [OMIM 191045]
—
TPM1
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3; Left ventricular noncompaction 9 [OMIM 191010]
—
TRDN
Cardio Pro, ClinEX Pro
Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness [OMIM 603283]
—
TRIM63
Cardio Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered
—
TRPM4
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Erythrokeratodermia veriabilis et progressiva 6; Progressive familial heart block, type IB [OMIM 606936]
—
TTN
Cardio Pro, ClinEX Pro
Dilated cardiomyopathy ± conduction disease/arrhythmia Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9; Muscular dystrophy, limb-girdle, autosomal recessive 10; Myopathy, myofibrillar, 9, with early respiratory failure; Salih myopathy; Tibial muscular dystrophy, tardive [OMIM 188840]
—
TTR
Cardio Pro, ClinEX Pro
Cardiovascular genetic disorder (evidence varies by gene); [Dystransthyretinemic hyperthyroxinemia]; Amyloidosis, hereditary, transthyretin-related; Carpal tunnel syndrome, familial [OMIM 176300]
—
TXNRD2
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); ?Glucocorticoid deficiency 5 [OMIM 606448]
—
VCL
Cardio Pro, Fusion Pro, ClinEX Pro
Muscular dystrophy/myopathy with cardiomyopathy Often conduction disease/arrhythmic phenotype; device therapy frequently considered; Skeletal muscle involvement common; cardiology surveillance; VCL-VCL ChiTaRs — Known breakpoint exon(s): 16; Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15 [OMIM 193065]
—
ZBTB17
Cardio Pro
Congenital heart disease (rare/uncertain evidence) Septation/outflow/atrioventricular conduction defects; syndromic associations common; Transcription factor (MIZ1)
—
ZHX3
Cardio Pro
Cardiovascular association not well established
—
ZIC3
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Congenital heart defects, nonsyndromic, 1, X-linked; Heterotaxy, visceral, 1, X-linked; VACTERL association, X-linked [OMIM 300265]
—
CALM2
Cardio Pro, ClinEX Pro
Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Primary channelopathy; gene-specific management; Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Long QT syndrome 15 [OMIM 114182]
—
CALM3
Cardio Pro, ClinEX Pro
Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Primary channelopathy; gene-specific management; Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; ?Ventricular tachycardia, catecholaminergic polymorphic 6; Long QT syndrome 16 [OMIM 114183]
—
MYL4
Cardio Pro, ClinEX Pro
Cardiomyopathy (HCM/DCM/LVNC variable expressivity) Sarcomeric gene; high -evidence (ClinGen); ?Atrial fibrillation, familial, 18 [OMIM 160770]
—
SCN10A
Cardio Pro, ClinEX Pro
Brugada syndrome / progressive cardiac conduction disease Channelopathy; SCN5A major gene; Episodic pain syndrome, familial, 2 [OMIM 604427]
—
SLC4A3
Cardio Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Channelopathy; SCN5A major gene; Primary electrical disease; phenotype -dependent management
—
TECRL
Cardio Pro, ClinEX Pro
Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Ventricular tachycardia, catecholaminergic polymorphic, 3 [OMIM 617242]
—
CHRM2
Cardio Pro
Cardiovascular genetic disorder (evidence varies by gene)
—
CTNNA3
Cardio Pro, ClinEX Pro
Arrhythmogenic cardiomyopathy (ACM/ARVC) Desmosomal/intercalated disc pathway; Arrhythmogenic right ventricular dysplasia, familial, 13 [OMIM 607667]
—
FGF12
Cardio Pro, ClinEX Pro
Catecholaminergic polymorphic ventricular tachycardia / ventricular ectopy Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Developmental and epileptic encephalopathy 47 [OMIM 601513]
—
GATA4
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; ?Testicular anomalies with or without congenital heart disease; Atrial septal defect 2; Atrioventricular septal defect 4; Tetralogy of Fallot; Ventricular septal defect 1 [OMIM 600576]
—
GATA6
Cardio Pro, ClinEX Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common; Atrial septal defect 9; Atrioventricular septal defect 5; Pancreatic agenesis and congenital heart defects; Persistent truncus arteriosus; Tetralogy of Fallot [OMIM 601656]
—
GJA1
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Septation/outflow/atrioventricular conduction defects; syndromic associations common; Primary electrical disease; phenotype-dependent management; Atrioventricular septal defect 3; Craniometaphyseal dysplasia, autosomal recessive; Erythrokeratodermia variabilis et progressiva 3; Hypoplastic left heart syndrome 1; Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive; Palmoplantar keratoderma with congenital alopecia; Syndactyly, type III [OMIM 121014]
—
GJC1
Cardio Pro
Congenital heart disease and/or conduction system disease Septation/outflow/atrioventricular conduction defects; syndromic associations common
—
HEY2
Cardio Pro
Brugada syndrome / progressive cardiac conduction disease Channelopathy; SCN5A major gene
—
KCNAB2
Cardio Pro
Brugada syndrome / progressive cardiac conduction disease Channelopathy; SCN5A major gene
—
KCNE5
Cardio Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management
—
NOS1AP
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; Nephrotic syndrome, type 22 [OMIM 605551]
—
NUP155
Cardio Pro, ClinEX Pro
Atrial fibrillation; sudden death (rare) Nuclear pore complex; ?Atrial fibrillation 15 [OMIM 606694]
—
SLC8A1
Cardio Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Exercise/emotion -triggered arrhythmia; beta-blocker/LCSD/ICD per guidelines; Primary electrical disease; phenotype -dependent management
—
SLMAP
Cardio Pro
Brugada syndrome / progressive cardiac conduction disease Channelopathy; SCN5A major gene
—
STRN
Cardio Pro, Fusion Pro
Atrial arrhythmia/ACM (rare) Evidence limited; striatin, calmodulin binding protein [Source:HGNC Symbol; Acc:11424] — Known breakpoint exon(s): 3
—
SURF1
Cardio Pro, ClinEX Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development); Charcot-Marie-Tooth disease, type 4K; Mitochondrial complex IV deficiency, nuclear type 1 [OMIM 185620]
—
TRPM7
Cardio Pro, ClinEX Pro
Arrhythmia susceptibility (channel/sarcolemmal/excitation-contraction coupling) Primary electrical disease; phenotype -dependent management; {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to} [OMIM 605692]
—
APOA1
Cardio Pro, ClinEX Pro
Primary dyslipidemia (hypertriglyceridemia/sitosterolemia/HDL disorders) Targetable (diet/drugs); ABCG5/8: sitosterolemia; Amyloidosis, 3 or more types; ApoA-I and apoC-III deficiency, combined; Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding [OMIM 107680]
—
ATP2A2
Cardio Pro, ClinEX Pro
Cardiomyopathy/arrhythmia (rare) with Darier disease SERCA2; skin disease predominant; Acrokeratosis verruciformis; Darier disease [OMIM 108740]
—
SLC12A3
Cardio Pro, ClinEX Pro
Gitelman syndrome with arrhythmia risk (electrolyte -mediated) Secondary QT effects; Gitelman syndrome [OMIM 600968]
—
SOS2
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome 9 [OMIM 601247]
—
LZTR1
Cardio Pro, Heva Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Schwannomatosis; Noonan syndrome (RASopathy) Tumor predisposition to multiple schwannomas; {Schwannomatosis-2, susceptibility to}; Noonan syndrome 10; Noonan syndrome 2 [OMIM 600574]
—
SPRED1
Cardio Pro, Heva Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Legius syndrome (NF1 -like) Generally lacks neurofibromas; tumor risk low; Legius syndrome [OMIM 609291]
—
SPRED2
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome 14 [OMIM 609292]
—
RIT1
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome 8 [OMIM 609591]
—
RRAS2
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome 12; Ovarian carcinoma [OMIM 600098]
—
MRAS
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome 11 [OMIM 608435]
—
PPP1CB
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome-like disorder with loose anagen hair 2 [OMIM 600590]
—
MAPK1
Cardio Pro, ClinEX Pro
RASopathy (Noonan spectrum) with CHD ± HCM Syndromic; extracardiac features; surveillance per RASopathy guidelines; Noonan syndrome 13 [OMIM 176948]
—
MUTYH
Heva Pro, IVF Pro, ClinEX Pro
Hereditary cancer/cancer-syndrome association (evidence varies); MUTYH -associated polyposis (MAP) Autosomal recessive cancer predisposition; Adenomas, multiple colorectal; Gastric cancer, somatic [OMIM 604933]
—
MEN1
Heva Pro, ClinEX Pro
Multiple endocrine neoplasia type 1 Parathyroid, pancreatic NETs, pituitary; surveillance protocol; Adrenal adenoma, somatic; Angiofibroma, somatic; Carcinoid tumor of lung; Lipoma, somatic; Multiple endocrine neoplasia 1; Parathyroid adenoma, somatic [OMIM 613733]
—
MRE11
Heva Pro, HRD Pro, ClinEX Pro
Breast/ovarian cancer (evidence limited/moderate) MRN complex; ataxia-telangiectasia –like disorder if biallelic; A Breast/ovarian predisposition (limited/moderate evidence) MRN complex; ataxia-telangiectasia –like syndrome if biallelic; Ataxia-telangiectasia-like disorder 1 [OMIM 600814]
—
CDK4
Heva Pro, ClinEX Pro
Familial melanoma (rare) Cyclin -dependent kinase 4; melanoma families with R24 mutations; {Melanoma, cutaneous malignant, 3} [OMIM 123829]
—
FLCN
Heva Pro, ClinEX Pro
Birt–Hogg–Dubé syndrome Renal tumors (chromophobe/oncocytic); lung cysts/pneumothorax; fibrofolliculomas; Birt-Hogg-Dube syndrome; Colorectal cancer, somatic; Pneumothorax, primary spontaneous; Renal carcinoma, chromophobe, somatic [OMIM 607273]
—
EPCAM
Heva Pro, ClinEX Pro
Lynch syndrome via MSH2 promoter methylation (3' deletions) Treat as MSH2 -deficient for surveillance/therapy; Colorectal cancer, hereditary nonpolyposis, type 8; Diarrhea 5, with tufting enteropathy, congenital [OMIM 185535]
—
MSH2
Heva Pro, HRD Pro, ClinEX Pro
Lynch syndrome (MMR deficiency) MSI-H/dMMR; ICI sensitivity; consider MSH2 epimutations via; Lynch syndrome (dMMR/MSI -H) Consider EPCAM 3' deletions causing MSH2 epimutation; Colorectal cancer, hereditary nonpolyposis, type 1; Mismatch repair cancer syndrome 2; Muir-Torre syndrome [OMIM 609309]
—
NF2
Heva Pro, ClinEX Pro
Neurofibromatosis type 2 Bilateral vestibular schwannomas; meningiomas; ependymomas; Meningioma, NF2-related, somatic; Neurofibromatosis, type 2; Schwannomatosis, somatic [OMIM 607379]
—
XPC
Heva Pro, ClinEX Pro
Hereditary cancer/cancer-syndrome association (evidence varies); Xeroderma pigmentosum, group C [OMIM 613208]
—
ABRAXAS1
Heva Pro
Hereditary breast cancer (evidence limited) BRCA1 -A complex member (ABRA1/CCDC98); limited clinical actionability
—
RAD50
Heva Pro, HRD Pro, ClinEX Pro
Breast/ovarian cancer (evidence limited/moderate) MRN complex (MRE11 –RAD50– NBN); actionability limited; Breast/ovarian predisposition (limited/moderate evidence) MRN complex; biallelic rare FA-like; Nijmegen breakage syndrome-like disorder [OMIM 604040]
—
XRCC2
Heva Pro, ClinEX Pro
Breast cancer (evidence limited/moderate) HRR pathway; clinical actionability limited; ?Fanconi anemia, complementation group U; ?Premature ovarian failure 17; Spermatogenic failure [OMIM 600375]
—
ESR1
Heva Pro, ClinEX Pro
Mainly associated with breast cancer (particularly in ER-positive ones); also relevant in ovarian and endometrial cancer clinically actionable in ER-positive/HER2 -negative advanced or metastatic breast cancer; acquired ESR1 mutations associated with endocrine resistance and may guide treatment selection; {Migraine, susceptibility to}; {Myocardial infarction, susceptibility to}; Breast cancer, somatic; Estrogen resistance [OMIM 133430]
—
PMS2
Heva Pro, ClinEX Pro
Lynch syndrome (MMR deficiency) MSI-H/dMMR; lower penetrance; testing complexities due to pseudogenes; Colorectal cancer, hereditary nonpolyposis, type 4; Mismatch repair cancer syndrome 4 [OMIM 600259]
—
WRN
Heva Pro, ClinEX Pro
Werner syndrome (adult progeria) with cancer predisposition AR; sarcomas/thyroid; genome instability; Werner syndrome [OMIM 604611]
—
PTCH1
Heva Pro, ClinEX Pro
Gorlin (nevoid basal cell carcinoma) syndrome Basal cell carcinomas; jaw cysts; medulloblastoma risk; Basal cell carcinoma, somatic; Basal cell nevus syndrome; Holoprosencephaly 7 [OMIM 601309]
—
ABCD1
IVF Pro, ClinEX Pro
X-linked adrenoleukodystrophy Accumulation of very long chain fatty acids; Adrenoleukodystrophy; Adrenomyeloneuropathy, adult [OMIM 300371]
—
ANK1
IVF Pro, ClinEX Pro
Hereditary spherocytosis Red blood cell membrane defect; Spherocytosis, type 1 [OMIM 612641]
—
ANXA5
IVF Pro, ClinEX Pro
Thrombophilia, recurrent pregnancy loss Risk allele, not always pathogenic; {Pregnancy loss, recurrent, susceptibility to, 3} [OMIM 131230]
—
AR
IVF Pro, ClinEX Pro
Androgen insensitivity syndrome X-linked; {Prostate cancer, susceptibility to}; Androgen insensitivity; Androgen insensitivity, partial, with or without breast cancer; Hypospadias 1, X- linked; Spinal and bulbar muscular atrophy of Kennedy [OMIM 313700]
—
ASPA
IVF Pro, ClinEX Pro
Canavan disease Spongiform leukodystrophy; Canavan disease [OMIM 608034]
—
BBS1
IVF Pro, ClinEX Pro
Bardet -Biedl syndrome Ciliopathy; Bardet-Biedl syndrome 1 [OMIM 209901]
—
BBS2
IVF Pro, ClinEX Pro
Bardet -Biedl syndrome Ciliopathy; Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 [OMIM 606151]
—
BBS10
IVF Pro, ClinEX Pro
Bardet -Biedl syndrome Ciliopathy; Bardet-Biedl syndrome 10 [OMIM 610148]
—
BCHE
IVF Pro, ClinEX Pro
Butyrylcholinesterase deficiency Prolonged apnea under anesthesia; {Apnea, postanesthetic, susceptibility to, due to BCHE deficiency}; Butyrylcholinesterase deficiency [OMIM 177400]
—
BDNF
IVF Pro
Neurological/psychiatric disorders Polymorphisms associated with risk
—
BLM
IVF Pro, ClinEX Pro
Bloom syndrome Chromosomal instability; Bloom syndrome [OMIM 604610]
—
CAPN3
IVF Pro, ClinEX Pro
Limb -girdle muscular dystrophy type 2A Autosomal recessive; Muscular dystrophy, limb-girdle, autosomal dominant 4; Muscular dystrophy, limb-girdle, autosomal recessive 1 [OMIM 114240]
—
CHM
IVF Pro, ClinEX Pro
Choroideremia X-linked retinal dystrophy; Choroideremia [OMIM 300390]
—
CLRN1
IVF Pro, ClinEX Pro
Usher syndrome type 3 Retinitis pigmentosa and hearing loss; Retinitis pigmentosa 61; Usher syndrome, type 3A [OMIM 606397]
—
DHCR7
IVF Pro, ClinEX Pro
Smith -Lemli -Opitz syndrome Defect in cholesterol biosynthesis; Smith-Lemli-Opitz syndrome [OMIM 602858]
—
DYSF
IVF Pro, ClinEX Pro
Limb -girdle muscular dystrophy type 2B, Miyoshi myopathy Dysferlin defect; Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, autosomal recessive 2; Myopathy, distal, with anterior tibial onset [OMIM 603009]
—
ELP1
IVF Pro, ClinEX Pro
Familial dysautonomia Ashkenazi founder mutation; Dysautonomia, familial [OMIM 603722]
—
EPB42
IVF Pro, ClinEX Pro
Hereditary elliptocytosis RBC membrane defect; Spherocytosis, type 5 [OMIM 177070]
—
ERCC6
IVF Pro, ClinEX Pro
Cockayne syndrome type B DNA repair disorder; {Lung cancer, susceptibility to}; {Macular degeneration, age-related, susceptibility to, 5}; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome, type B; De Sanctis-Cacchione syndrome; Premature ovarian failure 11; UV-sensitive syndrome 1 [OMIM 609413]
—
F5
IVF Pro, ClinEX Pro
Factor V Leiden thrombophilia Risk of venous thrombosis; {Budd-Chiari syndrome}; {Pregnancy loss, recurrent, susceptibility to, 1}; {Stroke, ischemic, susceptibility to}; {Thrombophilia, susceptibility to, due to factor V Leiden}; Factor V deficiency; Thrombophilia due to activated protein C resistance [OMIM 612309]
—
FMR1
IVF Pro, ClinEX Pro
Fragile X syndrome CGG expansion >200; Fragile X syndrome; Fragile X tremor/ataxia syndrome; Premature ovarian failure 1 [OMIM 309550]
—
SLC40A1
IVF Pro, ClinEX Pro
(Alias FPN1) Hemochromatosis type 4 (ferroportin disease) Iron overload disorder; Hemochromatosis, type 4 [OMIM 604653]
—
FSHR
IVF Pro, ClinEX Pro
Infertility Endocrine reproductive disorder G6PC Glycogen storage disease type Ia (von Gierke disease) Gluconeogenesis defect; Ovarian dysgenesis 1; Ovarian hyperstimulation syndrome; Ovarian response to FSH stimulation [OMIM 136435]
—
GNE
IVF Pro, ClinEX Pro
Hereditary inclusion body myopathy (HIBM) Autosomal recessive; Nonaka myopathy; Sialuria [OMIM 603824]
—
HEXB
IVF Pro, ClinEX Pro
Sandhoff disease GM2 gangliosidosis; Sandhoff disease, infantile, juvenile, and adult forms [OMIM 606873]
—
HLA-G
IVF Pro, ClinEX Pro
Immune tolerance modulation Variants linked to pregnancy outcome; {Asthma, susceptibility to} [OMIM 142871]
—
HOGA1
IVF Pro, ClinEX Pro
Primary hyperoxaluria type III Metabolic disorder; Hyperoxaluria, primary, type III [OMIM 613597]
—
LHB
IVF Pro, ClinEX Pro
Hypogonadism, infertility Endocrine disorder; Hypogonadotropic hypogonadism 23 with or without anosmia [OMIM 152780]
—
LHCGR
IVF Pro, ClinEX Pro
Hypogonadism, infertility Endocrine disorder; Leydig cell adenoma, somatic, with precocious puberty; Leydig cell hypoplasia with hypergonadotropic hypogonadism; Leydig cell hypoplasia with pseudohermaphroditism; Luteinizing hormone resistance, female; Precocious puberty, male [OMIM 152790]
—
MCOLN1
IVF Pro, ClinEX Pro
Mucolipidosis type IV Lysosomal storage disorder; Mucolipidosis IV [OMIM 605248]
—
MEFV
IVF Pro, ClinEX Pro
Familial Mediterranean fever Autoinflammatory disorder; Familial Mediterranean fever, AD; Familial Mediterranean fever, AR; Neutrophilic dermatosis, acute febrile [OMIM 608107]
—
MTM1
IVF Pro, ClinEX Pro
X-linked myotubular myopathy Severe neonatal muscle weakness; Myotubular myopathy, X-linked [OMIM 300415]
—
MYO7A
IVF Pro, ClinEX Pro
Usher syndrome type 1B Hearing loss + retinitis pigmentosa; Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome, type 1B [OMIM 276903]
—
NEB
IVF Pro, ClinEX Pro
Nemaline myopathy Neuromuscular disease; Nemaline myopathy 2, autosomal recessive [OMIM 161650]
—
C2
IVF Pro, ClinEX Pro
Cholesterol trafficking defect NROB1 X-linked adrenal hypoplasia congenita DAX1 gene; {Macular degeneration, age-related, 14, reduced risk of}; C2 deficiency [OMIM 613927]
—
OTOF
IVF Pro, ClinEX Pro
Non -syndromic hearing loss Autosomal recessive; Auditory neuropathy, autosomal recessive, 1; Deafness, autosomal recessive 9 [OMIM 603681]
—
SERPINE1
IVF Pro, ClinEX Pro
(Alias PAI) Thrombophilia (PAI -1 variants) Altered fibrinolysis; {Transcription of plasminogen activator inhibitor, modulator of}; Plasminogen activator inhibitor-1 deficiency [OMIM 173360]
—
PCDH15
IVF Pro, ClinEX Pro
Usher syndrome type 1F Hearing loss + retinitis pigmentosa; Deafness, autosomal recessive 23; Usher syndrome, type 1D/F digenic; Usher syndrome, type 1F [OMIM 605514]
—
PEX1
IVF Pro, ClinEX Pro
Zellweger spectrum disorders Peroxisome biogenesis disorder; Heimler syndrome 1; Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD) [OMIM 602136]
—
PJVK
IVF Pro, ClinEX Pro
Nonsyndromic hearing loss DFNB59 Auditory neuropathy; Deafness, autosomal recessive 59 [OMIM 610219]
—
PKD1
IVF Pro, ClinEX Pro
Autosomal dominant polycystic kidney disease High penetrance; Polycystic kidney disease 1 [OMIM 601313]
—
PKD2
IVF Pro, ClinEX Pro
Autosomal dominant polycystic kidney disease High penetrance; Polycystic kidney disease 2 [OMIM 173910]
—
PKHD1
IVF Pro, ClinEX Pro
Autosomal recessive polycystic kidney disease Severe pediatric form; Polycystic kidney disease 4, with or without hepatic disease [OMIM 606702]
—
PMM2
IVF Pro, ClinEX Pro
Congenital disorder of glycosylation type Ia (CDG-Ia) Multisystem disorder; Congenital disorder of glycosylation, type Ia [OMIM 601785]
—
RMRP
IVF Pro, ClinEX Pro
Cartilage -hair hypoplasia Immunodeficiency + skeletal disorder; Anauxetic dysplasia 1; Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosis [OMIM 157660]
—
RS1
IVF Pro, ClinEX Pro
X-linked juvenile retinoschisis Vision disorder; Retinoschisis [OMIM 300839]
—
SLC26A2
IVF Pro, ClinEX Pro
Diastrophic dysplasia Skeletal dysplasia; Achondrogenesis Ib; Atelosteogenesis, type II; De la Chapelle dysplasia; Diastrophic dysplasia; Diastrophic dysplasia, broad bone- platyspondylic variant; Epiphyseal dysplasia, multiple, 4 [OMIM 606718]
—
SMN2
IVF Pro, ClinEX Pro
Spinal muscular atrophy (modifier gene) Copy number affects severity; {Spinal muscular atrophy, type III, modifier of} [OMIM 601627]
—
TFR2
IVF Pro, ClinEX Pro
Hereditary hemochromatosis type 3 Iron overload; Hemochromatosis, type 3 [OMIM 604720]
—
TMEM216
IVF Pro, ClinEX Pro
Joubert syndrome type 2, Meckel syndrome Ciliopathy; Joubert syndrome 2; Meckel syndrome 2 [OMIM 613277]
—
USH2A
IVF Pro, ClinEX Pro
Usher syndrome type 2A Hearing loss + retinitis pigmentosa; Retinitis pigmentosa 39; Usher syndrome, type 2A [OMIM 608400]
—
G6PC
Neoscreen Pro
Glycogen storage disease type Ia Cornstarch therapy
—
IGHM
Neoscreen Pro, ClinEX Pro
Primary immunodeficiency / inborn error of immunity Follow ESID/IAA guidelines; HSCT/targeted therapy context -dependent; Agammaglobulinemia 1 [OMIM 147020]
—
POLG1
Cardio Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development)
—
SEPN1
Cardio Pro
Muscular dystrophy/myopathy with cardiomyopathy Skeletal muscle involvement common; cardiology surveillance
—
TAZ
Cardio Pro
Metabolic/mitochondrial cardiomyopathy (glycogen/lysosomal/FAO/respiratory chain) Targetable in some (ERT: GLA/GAA; disease -specific therapies under development)
—
ABI1
Fusion Pro
KMT2A-ABI1 , MLLT10-ABI1 STADCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 2,3
—
ABI2
Fusion Pro
KMT2A-ABI2 , ABI2-MLLT3 STADCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 4,5
—
ACBD6
Fusion Pro
ACBD6-RRP15 breast neoplasm Cosmic — Known breakpoint exon(s): 5
—
ACLY
Fusion Pro
NTN1-ACLY , ACLY-TAF15 SARCCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 11
—
ACSL3
Fusion Pro
ACSL3-ACSL3 , ACSL3-ETV1 prostate neoplasm ChiTaRs , Cosmic — Known breakpoint exon(s): 3
—
ACTN4
Fusion Pro, ClinEX Pro
ACTN4-ACTN4 , EIF3K-ACTN4 , ACTN4-ETV5 , FUS-ACTN4 , KMT2A-ACTN4 , LSM14A- ACTN4 GBM , BRCAChiTaRs , TCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 1,2; Glomerulosclerosis, focal segmental, 1 [OMIM 604638]
—
AFDN
Fusion Pro
ERC1-AFDN , KMT2A-AFDN BRCATCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 2
—
AFF1
Fusion Pro
AFF1-AFF1 , AFF3-AFF1 , GAS7-AFF1 , KMT2A-AFF1 , AFF1-TRIM33chronic myeloid leukemia(CML)ChiTaRs , ChimerPub-Plus , Cosmic — Known breakpoint exon(s): 4,5,6,11
—
AFF3
Fusion Pro, ClinEX Pro
KMT2A-AFF3 , AFF3-TMPRSS2 PRADCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 9; KINSSHIP syndrome [OMIM 601464]
—
AFF4
Fusion Pro, ClinEX Pro
COX6C-AFF4 , KMT2A-AFF4 ChiTaRs , Cosmic — Known breakpoint exon(s): 5,6,19; CHOPS syndrome [OMIM 604417]
—
AGPAT5
Fusion Pro
AGPAT5-AGPAT5 , AGPAT5- MCPH1 ChiTaRs , Cosmic — Known breakpoint exon(s): 51
—
AGTRAP
Fusion Pro
AGTRAP-BRAF Cosmic — Known breakpoint exon(s): 5
—
ALDH2
Fusion Pro, ClinEX Pro
ALDH2-ALDH2 , HMGA2- ALDH2 ChiTaRs , Cosmic — Known breakpoint exon(s): 13; {Esophageal cancer, alcohol-related, susceptibility to}; {Hangover, susceptibility to}; {Sublingual nitroglycerin, susceptibility to poor response to}; Alcohol sensitivity, acute [OMIM 100650]
—
ARHGAP26
Fusion Pro, ClinEX Pro
ARHGAP26-ARHGAP26 , COL1A1-ARHGAP26 , KMT2A- ARHGAP26 , ARHGAP26- NRG1 , NUP214-ARHGAP26 , TP53-ARHGAP26 ChiTaRs , Cosmic — Known breakpoint exon(s): 12,19; Leukemia, juvenile myelomonocytic, somatic [OMIM 605370]
—
ARHGEF12
Fusion Pro
ARHGEF12-ARHGEF12 , KMT2A-ARHGEF12 ChiTaRs , Cosmic — Known breakpoint exon(s): 12
—
ASIC2
Fusion Pro
NF1-ASIC2 SARC TCGA_RNA-Seq — Known breakpoint exon(s): 2
—
ASPSCR1
Fusion Pro, ClinEX Pro
ASPSCR1-TFE3 Cosmic — Known breakpoint exon(s): 7,8; Alveolar soft-part sarcoma [OMIM 606236]
—
ATF1
Fusion Pro
ATF1-ATF1 , EWSR1-ATF1 , FUS-ATF1 , SARNP-ATF1 STADChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 3,4,5,7
—
ATG4C
Fusion Pro
ATG4C-ATG4C , ATG4C- FBXO38 , ATG4C-NFIA OVChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 10
—
ATIC
Fusion Pro, ClinEX Pro
ATIC-ATIC , FN1-ATIC STADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 75; AICA-ribosiduria due to ATIC deficiency [OMIM 601731]
—
ATP8B2
Fusion Pro
IL6R-ATP8B2 Cosmic — Known breakpoint exon(s): 3
—
BAIAP2L1
Fusion Pro
BAIAP2L1-ELK4 , FGFR3- BAIAP2L1 OVTCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 2
—
BBS9
Fusion Pro, ClinEX Pro
BBS9-PKD1L1 breast neoplasm Cosmic — Known breakpoint exon(s): 9; Bardet-Biedl syndrome 9 [OMIM 607968]
—
BCR
Fusion Pro, ClinEX Pro
BCR-FGFR1 , BCR-JAK2 , BCR- RETchronic myelomonocytic leukemiamRNA_Sequence , Cosmic , ChimerPub-Plus; Leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic; Leukemia, chronic myeloid, Philadelphia chromosome positive, somatic [OMIM 151410]
—
BRD3
Fusion Pro
BRD3-BRD3 , BRD3-NUTM1 , BRD3-SET STADChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 10
—
BRD4
Fusion Pro
BRD4-BRD4 , BRD4-NUTM1 , RARA-BRD4 ChiTaRs , Cosmic — Known breakpoint exon(s): 11
—
BTBD18
Fusion Pro
BTBD18-KMT2A Cosmic — Known breakpoint exon(s): 3
—
CARS
Fusion Pro
cysteinyl-tRNA synthetase [Source:HGNC Symbol; Acc:1493] — Known breakpoint exon(s): 17
—
CBFA2T3
Fusion Pro
CBFA2T3-GLIS2 , NFIA- CBFA2T3 , RUNX1-CBFA2T3pediatric disorder , acute erythroid leukemia , acute myeloid leukemiaChimerPub-Plus , Mitelman,OMIM, GenBank — Known breakpoint exon(s): 10,11,12
—
CCDC6
Fusion Pro
CCDC6-PDGFRB , CCDC6-RET LUADmRNA_Sequence , TCGA_RNA-Seq — Known breakpoint exon(s): 1,2
—
CCNB1IP1
Fusion Pro
HMGA2-CCNB1IP1 Cosmic — Known breakpoint exon(s): 6
—
CD74
Fusion Pro
CD74-CD74 , EZR-CD74 , CD74-NRG1 , CD74-NTRK1 , CD74-ROS1STAD , non small cell lung cancer , LUADChiTaRs , TCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 6,8
—
CDH11
Fusion Pro, ClinEX Pro
CDH11-USP6 Cosmic — Known breakpoint exon(s): 2; Elsahy-Waters syndrome [OMIM 600023]
—
CDKN2D
Fusion Pro
CDKN2D-WDFY2 Cosmic — Known breakpoint exon(s): 2
—
CDX1
Fusion Pro
IRF2BP2-CDX1 Cosmic — Known breakpoint exon(s): 2
—
CENPK
Fusion Pro
centromere protein K [Source:HGNC Symbol; Acc:29479] — Known breakpoint exon(s): 6
—
CEP170B
Fusion Pro
KMT2A-CEP170B Cosmic — Known breakpoint exon(s): 4,6
—
CEP89
Fusion Pro
TMPRSS2-CEP89 STAD TCGA_RNA-Seq — Known breakpoint exon(s): 16
—
CIC
Fusion Pro, ClinEX Pro
CIC-CIC , CIC-DUX4 , EIF3K-CIC , CIC-FOXO4 , CIC-LMNA , NUTM2A-CICsmlymphoblastic leukemia- lymphoma round cell tumor , GBM , BRCA , neoplasm, HMR(Ewing-like sarcomas)ChiTaRs , Cosmic , TCGA_RNA-Seq , ChimerPub-Plus — Known breakpoint exon(s): 1,19,20; Mental retardation, autosomal dominant 45 [OMIM 612082]
—
CIP2A
Fusion Pro
KMT2A-CIP2A Cosmic — Known breakpoint exon(s): 17
—
CLIP1
Fusion Pro
CLIP1-CLIP1 , CLIP1-ROS1 , CLIP1-ZCCHC8 CESCChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 20
—
CLTC
Fusion Pro, ClinEX Pro
CLTC-ETV4 , MBTD1-CLTC , NF1-CLTC , ROS1-CLTC , CLTC- TFE3 , USP6-CLTCPRAD , Non-Cancer , BRCA , LUADTCGA_RNA-Seq , 1000Genome , Cosmic — Known breakpoint exon(s): 17,31; Mental retardation, autosomal dominant 56 [OMIM 118955]
—
COL1A1
Fusion Pro, ClinEX Pro
COL1A1-COL1A1 , COL1A1- FGFR1 , LMNA-COL1A1 , COL1A1-PDGFB , SEPT9- COL1A1 , COL1A1-SSH2 , COL1A1-USP6 UCS , SARC , BRCA , MESOChiTaRs , TCGA_RNA-Seq , Cosmic; {Bone mineral density variation QTL, osteoporosis}; Caffey disease; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Ehlers-Danlos syndrome, arthrochalasia type, 1; Osteogenesis imperfecta, type I; Osteogenesis imperfecta, type II; Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV [OMIM 120150]
—
COX6C
Fusion Pro
HMGA2-COX6C , COX6C- RGS22 BRCACosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 4
—
CREB1
Fusion Pro, ClinEX Pro
CREB1-CREB1 , EWSR1-CREB1 ChiTaRs , Cosmic — Known breakpoint exon(s): 7; Histiocytoma, angiomatoid fibrous, somatic [OMIM 123810]
—
CREB3L1
Fusion Pro, ClinEX Pro
EWSR1-CREB3L1 , FUS- CREB3L1 , PAX5-CREB3L1sclerosing epithelioid fibrosarcomaChimerPub-Plus , Cosmic — Known breakpoint exon(s): 5; Osteogenesis imperfecta, type XVI [OMIM 616215]
—
CREB3L2
Fusion Pro
CREB3L2-CREB3L2 , CREBBP- CREB3L2 , FUS-CREB3L2 , CREB3L2-LASP1 , CREB3L2- PCM1 , CREB3L2-PPARG BRCA , thyroid neoplasmChiTaRs , Cosmic , TCGA_RNA-Seq , ChimerPub-Plus — Known breakpoint exon(s): 1,5,6
—
CRTC1
Fusion Pro, ClinEX Pro
CRTC1-EWSR1 , CRTC1- MAML2 ChiTaRs , Cosmic — Known breakpoint exon(s): 2; Mucoepidermoid salivary gland carcinoma [OMIM 607536]
—
CRTC3
Fusion Pro
CRTC3-MAML2 Cosmic — Known breakpoint exon(s): 1
—
CUTA
Fusion Pro
SLC22A1-CUTA Cosmic CXorf67 chrX 1chromosome X open reading frame 67 [Source:HGNC Symbol; Acc:33738] — Known breakpoint exon(s): 4
—
CYP39A1
Fusion Pro
EIF3K-CYP39A1 Cosmic — Known breakpoint exon(s): 3
—
DAB2IP
Fusion Pro
DAB2IP-DAB2IP , DAB2IP- KMT2A ChiTaRs , Cosmic — Known breakpoint exon(s): 3
—
DAZL
Fusion Pro, ClinEX Pro
RAF1-DAZL Cosmic — Known breakpoint exon(s): 2; {Spermatogenic failure, susceptibility to} [OMIM 601486]
—
DCTN1
Fusion Pro, ClinEX Pro
dynactin 1 [Source:HGNC Symbol; Acc:2711] — Known breakpoint exon(s): 16,26; {Amyotrophic lateral sclerosis, susceptibility to}; Neuronopathy, distal hereditary motor, type VIIB; Perry syndrome [OMIM 601143]
—
DDIT3
Fusion Pro
EWSR1-DDIT3 , DDIT3-FUS SARCCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 2,3
—
DDX5
Fusion Pro
DDX5-DDX5 , DDX5-ETV4 , DDX5-SET , TMCC1-DDX5 Non-CancerChiTaRs , Cosmic , 1000Genome — Known breakpoint exon(s): 3
—
DNAJB1
Fusion Pro
DNAJB1-PRKACA LIHC TCGA_RNA-Seq — Known breakpoint exon(s): 1,2
—
DUX4
Fusion Pro
ERG-DUX4B-cell precursor acute lymphoblastic leukaemia ChimerPub-Plus — Known breakpoint exon(s): 1
—
EBF1
Fusion Pro
EBF1-EBF1 , HMGA2-EBF1 , EBF1-PDGFRB ChiTaRs , Cosmic — Known breakpoint exon(s): 8
—
EHF
Fusion Pro
EHF-EHF , NFIA-EHF ChiTaRs , Cosmic — Known breakpoint exon(s): 5
—
EIF3K
Fusion Pro
eukaryotic translation initiation factor 3, subunit K [Source:HGNC Symbol; Acc:24656] — Known breakpoint exon(s): 6
—
ELK4
Fusion Pro
SLC45A3-ELK4 , SORBS2-ELK4 , ELK4-VCL PRADCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 2
—
ELL
Fusion Pro
KMT2A-ELL , TP53-ELL LAML , SARC TCGA_RNA-Seq — Known breakpoint exon(s): 2,3
—
EPC1
Fusion Pro
KIF5B-EPC1 , EPC1-PHF1 ESCATCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 10
—
EPS15
Fusion Pro
EPS15-EPS15 , KMT2A-EPS15 ChiTaRs , Cosmic — Known breakpoint exon(s): 2,9,10,12
—
ERC1
Fusion Pro
ERC1-ERC1 , ERC1-RET , ERC1- ROS1 , ERC1-TACC3 , ERC1- YY1 THCA , BRCAChiTaRs , TCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 11,12
—
ERG
Fusion Pro
EWSR1-ERG , FUS-ERG , SLC45A3-ERG , ERG-TMPRSS2 PRADCosmic , TCGA_RNA-Seq
—
ERO1A
Fusion Pro
ERO1A-FERMT2 Cosmic — Known breakpoint exon(s): 5
—
ESRP1
Fusion Pro, ClinEX Pro
ESRP1-ESRP1 , RAF1-ESRP1 ChiTaRs , Cosmic — Known breakpoint exon(s): 13,14; ?Deafness, autosomal recessive 109 [OMIM 612959]
—
ETV1
Fusion Pro
EWSR1-ETV1 , HNRNPA2B1- ETV1 , KLK2-ETV1 , SLC45A3- ETV1 , TMPRSS2-ETV1 prostate neoplasm , PRADCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 4,8,9,12
—
ETV4
Fusion Pro
EWSR1-ETV4 , KLK2-ETV4 , SLC45A3-ETV4 , TMPRSS2- ETV4 prostate cancer , PRADCosmic , ChimerPub-Plus , TCGA_RNA-Seq — Known breakpoint exon(s): 5,9
—
ETV5
Fusion Pro
SLC45A3-ETV5 , TMPRSS2- ETV5 PRADCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 2
—
EWSR1
Fusion Pro, ClinEX Pro
EWSR1-EWSR1 , EWSR1-FEV , EWSR1-FLI1 , EWSR1-MYB , EWSR1-NFATC1 , EWSR1- NFATC2 , EWSR1-NR4A3 , EWSR1-PATZ1 , EWSR1-PBX1 , EWSR1-POU5F1 , SEPT9- EWSR1 , EWSR1-SMARCA5 , EWSR1-SP3 , EWSR1-WT1 , EWSR1-YY1 , EWSR1-ZNF384 ,; Ewing sarcoma; Neuroepithelioma [OMIM 133450]
—
EZR
Fusion Pro
EZR-EZR , EZR-ROS1 LUADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 10,12
—
FAM131B
Fusion Pro
family with sequence similarity 131, member B [Source:HGNC Symbol; Acc:22202] — Known breakpoint exon(s): 2,3
—
FBXO38
Fusion Pro, ClinEX Pro
FBXO38-FBXO38 ChiTaRs — Known breakpoint exon(s): 11; Neuronopathy, distal hereditary motor, type IID [OMIM 608533]
—
FCHSD1
Fusion Pro
FCH and double SH3 domains 1 [Source:HGNC Symbol; Acc:25463] — Known breakpoint exon(s): 13
—
FERMT2
Fusion Pro
FERMT2-FERMT2 , FERMT2- NPM1 ChiTaRs — Known breakpoint exon(s): 5
—
FEV
Fusion Pro
FUS-FEV Cosmic — Known breakpoint exon(s): 2
—
FHIT
Fusion Pro
FHIT-HMGA2 Cosmic — Known breakpoint exon(s): 9
—
FLI1
Fusion Pro, ClinEX Pro
FLI1-FLI1 ChiTaRs — Known breakpoint exon(s): 4,5,6,7,8,9; Bleeding disorder, platelet-type, 21 [OMIM 193067]
—
FN1
Fusion Pro, ClinEX Pro
FN1-FN1 , HNRNPA2B1-FN1 , FN1-SEC31A , SH3GL1-FN1 , SLC45A3-FN1 BRCA , OV , KICH , PRADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 23; Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia, corner fracture type [OMIM 135600]
—
FOXO3
Fusion Pro
FOXO3-GMDS , KMT2A- FOXO3 COADTCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 3
—
FOXO4
Fusion Pro
FOXO4-FOXO4 , KMT2A- FOXO4 ChiTaRs , Cosmic — Known breakpoint exon(s): 2
—
FUS
Fusion Pro, ClinEX Pro
NR4A3-FUS , FUS-POU5F1 , FUS-RUNX1EMC(EMC) , neoplasm, myoepithelial tumor(myoepithelial tumours)ChimerPub-Plus , ChiTaRs; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Essential tremor, hereditary, 4 [OMIM 137070]
—
GAB2
Fusion Pro
GAB2-GAB2 , INTS4-GAB2 BRCAChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 2
—
GAS7
Fusion Pro
GAS7-GAS7 , KMT2A-GAS7 ChiTaRs , Cosmic — Known breakpoint exon(s): 2
—
GEMIN2
Fusion Pro
MIA2-GEMIN2 Cosmic — Known breakpoint exon(s): 10
—
GLIS2
Fusion Pro, ClinEX Pro
GLIS family zinc finger 2 [Source:HGNC Symbol; Acc:29450] — Known breakpoint exon(s): 3,4,5; Nephronophthisis 7 [OMIM 608539]
—
GMDS
Fusion Pro
GMDS-GMDS , GMDS-PDE8B breast neoplasm ChiTaRs , Cosmic — Known breakpoint exon(s): 1
—
GNAI1
Fusion Pro, ClinEX Pro
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 [Source:HGNC Symbol; Acc:4384] — Known breakpoint exon(s): 1; velopmental disorder with hypotonia, impaired speech, and behavioral abno [OMIM 1N3e9u3r1o0de]
—
GOLGA5
Fusion Pro
GOLGA5-GOLGA5 , GOLGA5- RET ChiTaRs , Cosmic — Known breakpoint exon(s): 7,8
—
GOPC
Fusion Pro
GOPC-GOPC , PWWP2A- GOPC , GOPC-ROS1 ChiTaRs , Cosmic — Known breakpoint exon(s): 4,8
—
GPHN
Fusion Pro, ClinEX Pro
KMT2A-GPHN , RAD51B- GPHN LUSCCosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 10; Molybdenum cofactor deficiency C [OMIM 603930]
—
HAS2
Fusion Pro
HAS2-PLAG1 Cosmic — Known breakpoint exon(s): 1
—
HERPUD1
Fusion Pro
homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 [Source:HGNC Symbol; Acc:13744] — Known breakpoint exon(s): 4
—
HEY1
Fusion Pro
HEY1-NCOA2 Cosmic — Known breakpoint exon(s): 4
—
HIP1
Fusion Pro
HIP1-PDGFRB mRNA_Sequence — Known breakpoint exon(s): 21,28,30
—
HLA-A
Fusion Pro, ClinEX Pro
major histocompatibility complex, class I, A [Source:HGNC Symbol; Acc:4931] — Known breakpoint exon(s): 9; {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to} [OMIM 142800]
—
HMGA2
Fusion Pro, ClinEX Pro
HMGA2-HMGA2 , HMGA2- LHFPL6 , HMGA2-LPP , HMGA2-NFIB , HMGA2- RAD51B , HMGA2-SARNP , HMGA2-WIF1 SARCChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 2,3,4,5; Silver-Russell syndrome 5 [OMIM 600698]
—
HNRNPA2B1
Fusion Pro, ClinEX Pro
HNRNPA2B1-HNRNPA2B1 ChiTaRs — Known breakpoint exon(s): 1; ?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 [OMIM 600124]
—
HOOK3
Fusion Pro
HOOK3-HOOK3 , HOOK3-RET , HOOK3-TADA2A BRCAChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 11
—
IL6R
Fusion Pro, ClinEX Pro
interleukin 6 receptor [Source:HGNC Symbol; Acc:6019] — Known breakpoint exon(s): 7; [Interleukin 6, serum level of, QTL]; [Interleukin-6 receptor, soluble, serum level of, QTL]; Hyper-IgE recurrent infection syndrome 5, autosomal recessive [OMIM 147880]
—
INTS4
Fusion Pro
integrator complex subunit 4 [Source:HGNC Symbol; Acc:25048] — Known breakpoint exon(s): 2
—
IRF2BP2
Fusion Pro, ClinEX Pro
IRF2BP2-NTRK1 , IRF2BP2- RARATHCA , acute promyelocytic leukemia(APL)TCGA_RNA-Seq , ChimerPub-Plus — Known breakpoint exon(s): 1; ?Immunodeficiency, common variable, 14 [OMIM 615332]
—
ITPR2
Fusion Pro, ClinEX Pro
ITPR2-ITPR2 , ITPR2-KRAS STADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 35; ?Anhidrosis, isolated, with normal sweat glands [OMIM 600144]
—
JAZF1
Fusion Pro
JAZF1-PHF1 , JAZF1-SUZ12 Cosmic — Known breakpoint exon(s): 3
—
JPT1
Fusion Pro
JPT1-USH1G Cosmic — Known breakpoint exon(s): 1
—
KDM5A
Fusion Pro
NUP98-KDM5A mRNA_Sequence — Known breakpoint exon(s): 27
—
KIAA1549
Fusion Pro, ClinEX Pro
KIAA1549-KIAA1549 ChiTaRs; Retinitis pigmentosa 86 [OMIM 613344]
—
KIF5B
Fusion Pro
KIF5B-RET Cosmic
—
KLC1
Fusion Pro
KLC1-KLC1 ChiTaRs — Known breakpoint exon(s): 10
—
KLK2
Fusion Pro
KLK2-KLK2 , KLK2-STAT6 PRADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 2
—
KNL1
Fusion Pro, ClinEX Pro
Known breakpoint exon(s): 11,12; Microcephaly 4, primary, autosomal recessive [OMIM 609173]
—
KTN1
Fusion Pro
KTN1-KTN1 , KTN1-RET ChiTaRs , Cosmic — Known breakpoint exon(s): 29
—
LASP1
Fusion Pro
LASP1-LASP1 , MLLT6-LASP1 LUADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 6,7
—
LHFPL6
Fusion Pro
Known breakpoint exon(s): 4
—
LPP
Fusion Pro, ClinEX Pro
LPP-LPP , NCKIPSD-LPP , SEPT9-LPP , LPP-TP63 BRCAChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 7,8,9; Leukemia, acute myeloid; Lipoma [OMIM 600700]
—
LRIG3
Fusion Pro
LRIG3-ROS1 Cosmic — Known breakpoint exon(s): 16
—
LSM14A
Fusion Pro
LSM14A-LSM14A ChiTaRs — Known breakpoint exon(s): 9
—
MAML2
Fusion Pro, ClinEX Pro
MAML2-MAML2 , MAML2- MYO5A ChiTaRs — Known breakpoint exon(s): 1,2; Mucoepidermoid salivary gland carcinoma [OMIM 607537]
—
MAPRE1
Fusion Pro
MAPRE1-MAPRE1 ChiTaRs — Known breakpoint exon(s): 5,6
—
MAST1
Fusion Pro, ClinEX Pro
NFIX-MAST1 CESC TCGA_RNA-Seq — Known breakpoint exon(s): 8,19; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations [OMIM 612256]
—
MAST2
Fusion Pro
MAST2-MAST2 ChiTaRs — Known breakpoint exon(s): 2
—
MBOAT2
Fusion Pro
MBOAT2-NCOA1 , MBOAT2- PRKCE , MBOAT2-YWHAE Non-Cancer , OVTCGA RNA-Seq , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 6
—
MBTD1
Fusion Pro
mbt domain containing 1 [Source:HGNC Symbol; Acc:19866] — Known breakpoint exon(s): 16
—
MCPH1
Fusion Pro, ClinEX Pro
MCPH1-MCPH1 ChiTaRs — Known breakpoint exon(s): 14; Microcephaly 1, primary, autosomal recessive [OMIM 607117]
—
MEAF6
Fusion Pro
MEAF6-PHF1 Cosmic — Known breakpoint exon(s): 5
—
MIA2
Fusion Pro
melanoma inhibitory activity 2 [Source:HGNC Symbol; Acc:18432] — Known breakpoint exon(s): 20
—
MKRN1
Fusion Pro
MKRN1-MKRN1 ChiTaRs — Known breakpoint exon(s): 4
—
MLLT1
Fusion Pro
MLLT1-MLLT1 , SH3GL1- MLLT1 , SLC45A3-MLLT1 LUADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 2,3,4,6,7
—
MLLT10
Fusion Pro, ClinEX Pro
PICALM-MLLT10 LAML TCGA_RNA-Seq — Known breakpoint exon(s): 8,9,10,15,16; Leukemia, acute myeloid [OMIM 602409]
—
MLLT11
Fusion Pro
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 [Source:HGNC Symbol; Acc:16997] — Known breakpoint exon(s): 2
—
MLLT3
Fusion Pro
PAX5-MLLT3 , TMPRSS2- MLLT3epithelioma, acute myeloid leukemia(AML), chronic myeloid leukemia(CML) , PRADChimerPub-Plus , TCGA_RNA-Seq — Known breakpoint exon(s): 5,6,7,9,10
—
MLLT6
Fusion Pro
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 [Source:HGNC Symbol; Acc:7138] — Known breakpoint exon(s): 9,11
—
MN1
Fusion Pro, ClinEX Pro
meningioma (disrupted in balanced translocation) 1 [Source:HGNC Symbol; Acc:7180] — Known breakpoint exon(s): 1,2; CEBALID syndrome; Meningioma [OMIM 156100]
—
MSN
Fusion Pro, ClinEX Pro
moesin [Source:HGNC Symbol; Acc:7373] — Known breakpoint exon(s): 11; Immunodeficiency 50 [OMIM 309845]
—
MYB
Fusion Pro, ClinEX Pro
MYB-NFIB BRCA TCGA_RNA-Seq — Known breakpoint exon(s): 1,2,8,13,15; {T-cell acute lymphoblastic leukemia} [OMIM 189990]
—
MYO5A
Fusion Pro, ClinEX Pro
MYO5A-NTRK3 , MYO5A- ROS1 melanocytic neoplasmsChimerPub-Plus , Cosmic — Known breakpoint exon(s): 23; Griscelli syndrome, type 1 [OMIM 160777]
—
NAB2
Fusion Pro
NAB2-STAT6 Cosmic
—
NCKIPSD
Fusion Pro
NCK interacting protein with SH3 domain [Source:HGNC Symbol; Acc:15486] — Known breakpoint exon(s): 2
—
NCOA1
Fusion Pro
NCOA1-NCOA1 , PAX3- NCOA1 ChiTaRs , Cosmic — Known breakpoint exon(s): 14,15
—
NCOA2
Fusion Pro
NCOA2-NCOA2 , NCOA2- NRG1 , PAX3-NCOA2 BRCAChiTaRs , TCGA_RNA-Seq , Cosmic — Known breakpoint exon(s): 12,13
—
NCOA4
Fusion Pro
NCOA4-RET THCA TCGA_RNA-Seq — Known breakpoint exon(s): 7,8,9
—
NFATC1
Fusion Pro
NFATC1-NFATC1 ChiTaRs — Known breakpoint exon(s): 3
—
NFATC2
Fusion Pro
PICALM-NFATC2 STAD TCGA_RNA-Seq — Known breakpoint exon(s): 2,3
—
NFIA
Fusion Pro, ClinEX Pro
NFIA-NFIA ChiTaRs — Known breakpoint exon(s): 2; Brain malformations with or without urinary tract defects [OMIM 600727]
—
NFIB
Fusion Pro, ClinEX Pro
NFIB-NFIB , NFIB-STRN BRCAChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 8,9,10,11,12; Macrocephaly, acquired, with impaired intellectual development [OMIM 600728]
—
NFIX
Fusion Pro, ClinEX Pro
NFIX-NFIX ChiTaRs — Known breakpoint exon(s): 2; Marshall-Smith syndrome; Sotos syndrome 2 [OMIM 164005]
—
NONO
Fusion Pro, ClinEX Pro
NONO-TFE3 Cosmic — Known breakpoint exon(s): 9; Mental retardation, X-linked, syndromic 34 [OMIM 300084]
—
NR4A3
Fusion Pro, ClinEX Pro
TAF15-NR4A3 , TCF12-NR4A3 , TFG-NR4A3 Cosmic — Known breakpoint exon(s): 1,2,3; Chondrosarcoma, extraskeletal myxoid [OMIM 600542]
—
NRG1
Fusion Pro, ClinEX Pro
NRG1-NRG1 , PCM1-NRG1 , SDC4-NRG1 , SLC3A2-NRG1 KIRC , LUADChiTaRs , TCGA_RNA-Seq , ChimerPub-Plus — Known breakpoint exon(s): 6; {?Schizophrenia, susceptibility to} [OMIM 142445]
—
NTN1
Fusion Pro, ClinEX Pro
netrin 1 [Source:HGNC Symbol; Acc:8029] — Known breakpoint exon(s): 5; Mirror movements 4 [OMIM 601614]
—
NUP214
Fusion Pro, ClinEX Pro
NUP214-NUP214 , SET- NUP214 , SQSTM1-NUP214acute myelomonocytic leukemia,lymphoblastic leukemiaChiTaRs , Mitelman,OMIM, GenBank , ChimerPub-Plus; {Encephalopathy, acute, infection-induced, susceptibility to, 9}; Leukemia, acute myeloid, somatic; Leukemia, T-cell acute lymphoblastic, somatic [OMIM 114350]
—
NUP98
Fusion Pro
NUP98-NUP98 ChiTaRs — Known breakpoint exon(s): 13
—
NUTM1
Fusion Pro
NUT midline carcinoma, family member 1 [Source:HGNC Symbol; Acc:29919] — Known breakpoint exon(s): 1,2
—
NUTM2A
Fusion Pro
YWHAE-NUTM2A Cosmic — Known breakpoint exon(s): 2
—
NUTM2B
Fusion Pro
YWHAE-NUTM2B Cosmic — Known breakpoint exon(s): 2
—
OMD
Fusion Pro
OMD-USP6 Cosmic — Known breakpoint exon(s): 1
—
PACS1
Fusion Pro, ClinEX Pro
PACS1-PACS1 , RBM14-PACS1 , PACS1-TMPRSS2 PRADChiTaRs , Cosmic , TCGA_RNA-Seq — Known breakpoint exon(s): 5; Schuurs-Hoeijmakers syndrome [OMIM 607492]
—
PATZ1
Fusion Pro
POZ (BTB) and AT hook containing zinc finger 1 [Source:HGNC Symbol; Acc:13071] — Known breakpoint exon(s): 1
—
PAX3
Fusion Pro, ClinEX Pro
PAX3-PAX3 ChiTaRs — Known breakpoint exon(s): 6,7,8; Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar; Waardenburg syndrome, type 1; Waardenburg syndrome, type 3 [OMIM 606597]
—
PAX7
Fusion Pro, ClinEX Pro
paired box 7 [Source:HGNC Symbol; Acc:8621] — Known breakpoint exon(s): 7; Myopathy, congenital, progressive, with scoliosis; Rhabdomyosarcoma 2, alveolar [OMIM 167410]
—
PBX1
Fusion Pro, ClinEX Pro
PBX1-PBX1 , TCF3-PBX1 hematopoietic neoplasm ChiTaRs , Cosmic — Known breakpoint exon(s): 3,5; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay [OMIM 176310]
—
PCM1
Fusion Pro
PCM1-RET Cosmic
—
PDE8B
Fusion Pro, ClinEX Pro
phosphodiesterase 8B [Source:HGNC Symbol; Acc:8794] — Known breakpoint exon(s): 22; Pigmented nodular adrenocortical disease, primary, 3; Striatal degeneration, autosomal dominant [OMIM 603390]
—
PDGFB
Fusion Pro, ClinEX Pro
platelet-derived growth factor beta polypeptide [Source:HGNC Symbol; Acc:8800] — Known breakpoint exon(s): 2; Basal ganglia calcification, idiopathic, 5; Dermatofibrosarcoma protuberans; Meningioma, SIS-related [OMIM 190040]
—
PDGFRB
Fusion Pro, ClinEX Pro
TPM3-PDGFRB mRNA_Sequence — Known breakpoint exon(s): 10,11; Basal ganglia calcification, idiopathic, 4; Kosaki overgrowth syndrome; Myeloproliferative disorder with eosinophilia; Myofibromatosis, infantile, 1; Premature aging syndrome, Penttinen type [OMIM 173410]
—
PDS5A
Fusion Pro
PDS5A-PDS5A ChiTaRs — Known breakpoint exon(s): 16
—
PHF1
Fusion Pro
PHF1-PHF1 ChiTaRs — Known breakpoint exon(s): 2
—
PICALM
Fusion Pro, ClinEX Pro
PICALM-PICALM ChiTaRs — Known breakpoint exon(s): 8; Leukemia, acute myeloid, somatic [OMIM 603025]
—
PKD1L1
Fusion Pro, ClinEX Pro
polycystic kidney disease 1 like 1 [Source:HGNC Symbol; Acc:18053] — Known breakpoint exon(s): 21; Heterotaxy, visceral, 8, autosomal [OMIM 609721]
—
PLAG1
Fusion Pro, ClinEX Pro
TCEA1-PLAG1 Cosmic — Known breakpoint exon(s): 2,3; Adenomas, salivary gland pleomorphic, somatic; Silver-Russell syndrome 4 [OMIM 603026]
—
PLXND1
Fusion Pro
PLXND1-TMCC1 Cosmic — Known breakpoint exon(s): 12,13
—
POU5F1
Fusion Pro
POU class 5 homeobox 1 [Source:HGNC Symbol; Acc:9221] — Known breakpoint exon(s): 2
—
PPARG
Fusion Pro, ClinEX Pro
RAF1-PPARG Non-Cancer TCGA RNA-Seq — Known breakpoint exon(s): 2; [Obesity, resistance to]; {Diabetes, type 2}; Carotid intimal medial thickness 1; Insulin resistance, severe, digenic; Lipodystrophy, familial partial, type 3; Obesity, severe [OMIM 601487]
—
PPFIBP1
Fusion Pro
PPFIBP1-PPFIBP1 , PPFIBP1- ROS1 ChiTaRs , Cosmic — Known breakpoint exon(s): 9,12
—
PRCC
Fusion Pro, ClinEX Pro
TFE3-PRCC KIRP TCGA_RNA-Seq — Known breakpoint exon(s): 1,2,4; Renal cell carcinoma, papillary [OMIM 179755]
—
PRKACA
Fusion Pro, ClinEX Pro
protein kinase, cAMP-dependent, catalytic, alpha [Source:HGNC Symbol; Acc:9380] — Known breakpoint exon(s): 2; Cardioacrofacial dysplasia 1; Cushing syndrome, ACTH-independent adrenal, somatic [OMIM 601639]
—
PRKAR2A
Fusion Pro
SLC26A6-PRKAR2A Cosmic — Known breakpoint exon(s): 4
—
PRKCE
Fusion Pro
PRKCE-PRKCE ChiTaRs — Known breakpoint exon(s): 12
—
PTBP3
Fusion Pro
SUSD1-PTBP3 Cosmic — Known breakpoint exon(s): 2
—
PTPRK
Fusion Pro
PTPRK-PTPRK , PTPRK-RSPO3 colon neoplasm ChiTaRs , Cosmic — Known breakpoint exon(s): 1,7
—
PWWP2A
Fusion Pro
PWWP2A-ROS1 benign melanocytic nevus Cosmic — Known breakpoint exon(s): 1
—
RANBP2
Fusion Pro, ClinEX Pro
RANBP2-YWHAE STAD TCGA_RNA-Seq — Known breakpoint exon(s): 18; {Encephalopathy, acute, infection-induced, 3, susceptibility to} [OMIM 601181]
—
RARA
Fusion Pro, ClinEX Pro
RARA-RARA , RARA-SEPT9 , TBL1XR1-RARABRCA , acute promyelocytic leukemia(APL)ChiTaRs , TCGA_RNA-Seq , ChimerPub-Plus — Known breakpoint exon(s): 3; Leukemia, acute promyelocytic [OMIM 180240]
—
RBM14
Fusion Pro
RBM14-RBM14 ChiTaRs — Known breakpoint exon(s): 2
—
RELCH
Fusion Pro
Known breakpoint exon(s): 10
—
RGS22
Fusion Pro
RGS22-SYCP1 Cosmic — Known breakpoint exon(s): 22
—
RNF130
Fusion Pro
RNF130-RNF130 ChiTaRs — Known breakpoint exon(s): 3
—
RRP15
Fusion Pro
ribosomal RNA processing 15 homolog (S. cerevisiae) [Source:HGNC Symbol; Acc:24255] — Known breakpoint exon(s): 5
—
RSPO3
Fusion Pro
R-spondin 3 [Source:HGNC Symbol; Acc:20866] — Known breakpoint exon(s): 2
—
RUNX1T1
Fusion Pro
RUNX1T1-RUNX1T1 ChiTaRs — Known breakpoint exon(s): 2
—
SARNP
Fusion Pro
SARNP-STAT6 STAD TCGA_RNA-Seq — Known breakpoint exon(s): 2
—
SDC4
Fusion Pro
SDC4-SDC4 ChiTaRs — Known breakpoint exon(s): 4
—
SEC31A
Fusion Pro, ClinEX Pro
SEC31A-SEC31A ChiTaRs — Known breakpoint exon(s): 19,20; ?Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies [OMIM 610257]
—
SEPT2
Fusion Pro
septin 2 [Source:HGNC Symbol; Acc:7729] — Known breakpoint exon(s): 4
—
SEPT5
Fusion Pro
septin 5 [Source:HGNC Symbol; Acc:9164] — Known breakpoint exon(s): 3
—
SEPT6
Fusion Pro
septin 6 [Source:HGNC Symbol; Acc:15848] — Known breakpoint exon(s): 2
—
SEPT8
Fusion Pro
septin 8 [Source:HGNC Symbol; Acc:16511] — Known breakpoint exon(s): 1
—
SEPT9
Fusion Pro
septin 9 [Source:HGNC Symbol; Acc:7323] — Known breakpoint exon(s): 2,3
—
SET
Fusion Pro, ClinEX Pro
SET nuclear oncogene [Source:HGNC Symbol; Acc:10760] — Known breakpoint exon(s): 7; Mental retardation, autosomal dominant 58 [OMIM 600960]
—
SFPQ
Fusion Pro
SFPQ-SFPQ , SFPQ-TFE3 KIRCChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 7,9
—
SH3GL1
Fusion Pro, ClinEX Pro
SH3-domain GRB2-like 1 [Source:HGNC Symbol; Acc:10830] — Known breakpoint exon(s): 2; Leukemia, acute myeloid [OMIM 601768]
—
SHTN1
Fusion Pro
Known breakpoint exon(s): 11
—
SLC22A1
Fusion Pro
solute carrier family 22 (organic cation transporter), member 1 [Source:HGNC Symbol; Acc:10963] — Known breakpoint exon(s): 4
—
SLC26A6
Fusion Pro
solute carrier family 26 (anion exchanger), member 6 [Source:HGNC Symbol; Acc:14472] — Known breakpoint exon(s): 17
—
SLC34A2
Fusion Pro, ClinEX Pro
SLC34A2-SLC34A2 ChiTaRs — Known breakpoint exon(s): 4,13; Pulmonary alveolar microlithiasis [OMIM 604217]
—
SLC3A2
Fusion Pro
SLC3A2-SLC3A2 ChiTaRs — Known breakpoint exon(s): 5
—
SLC45A3
Fusion Pro
SLC45A3-STAT6 , SLC45A3- TMPRSS2 PRAD TCGA_RNA-Seq — Known breakpoint exon(s): 4
—
SMARCA5
Fusion Pro
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 [Source:HGNC Symbol; Acc:11101] — Known breakpoint exon(s): 5
—
SND1
Fusion Pro
SND1-SND1 ChiTaRs — Known breakpoint exon(s): 9,10,14
—
SORBS2
Fusion Pro
SORBS2-SORBS2 ChiTaRs — Known breakpoint exon(s): 19
—
SP3
Fusion Pro
Sp3 transcription factor [Source:HGNC Symbol; Acc:11208] — Known breakpoint exon(s): 5
—
SQSTM1
Fusion Pro, ClinEX Pro
SQSTM1-SQSTM1 , SS18L1- SQSTM1 STADChiTaRs , TCGA_RNA-Seq — Known breakpoint exon(s): 5; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Paget disease of bone 3 [OMIM 601530]
—
SRGAP3
Fusion Pro
SLIT-ROBO Rho GTPase activating protein 3 [Source:HGNC Symbol; Acc:19744] — Known breakpoint exon(s): 12
—
SS18
Fusion Pro, ClinEX Pro
SS18-SS18 , SS18-SSX1 , SS18- SSX2 , SS18-SSX4B SARCMitelman,OMIM, GenBank , TCGA_RNA-Seq , ChiTaRs — Known breakpoint exon(s): 9,10; Sarcoma, synovial [OMIM 600192]
—
SS18L1
Fusion Pro
SS18L1-SSX1 , SS18L1-SSX2 synovial sarcomaCosmic , Mitelman,OMIM, GenBank — Known breakpoint exon(s): 10
—
SSBP2
Fusion Pro
SSBP2-SSBP2 ChiTaRs — Known breakpoint exon(s): 3,4,5
—
SSH2
Fusion Pro
SSH2-SSH2 , SSH2-SUZ12 ChiTaRs , Cosmic — Known breakpoint exon(s): 2
—
SSX1
Fusion Pro, ClinEX Pro
synovial sarcoma, X breakpoint 1 [Source:HGNC Symbol; Acc:11335] — Known breakpoint exon(s): 4,5,6; ?Sarcoma, synovial [OMIM 312820]
—
SSX2
Fusion Pro, ClinEX Pro
synovial sarcoma, X breakpoint 2 [Source:HGNC Symbol; Acc:11336] — Known breakpoint exon(s): 4,6; ?Sarcoma, synovial [OMIM 300192]
—
SSX4B
Fusion Pro
synovial sarcoma, X breakpoint 4B [Source:HGNC Symbol; Acc:16880] — Known breakpoint exon(s): 3,6,7
—
STIL
Fusion Pro, ClinEX Pro
STIL-TAL1 Cosmic — Known breakpoint exon(s): 3; Microcephaly 7, primary, autosomal recessive [OMIM 181590]
—
SUSD1
Fusion Pro
sushi domain containing 1 [Source:HGNC Symbol; Acc:25413] — Known breakpoint exon(s): 6
—
SUZ12
Fusion Pro, ClinEX Pro
SUZ12-SUZ12 ChiTaRs — Known breakpoint exon(s): 2,8; Imagawa-Matsumoto syndrome [OMIM 606245]
—
SYCP1
Fusion Pro
synaptonemal complex protein 1 [Source:HGNC Symbol; Acc:11487] — Known breakpoint exon(s): 24
—
TACC1
Fusion Pro
TACC1-TACC1 ChiTaRs — Known breakpoint exon(s): 7
—
TACC3
Fusion Pro
transforming, acidic coiled-coil containing protein 3 [Source:HGNC Symbol; Acc:11524] — Known breakpoint exon(s): 8,10,11
—
TADA2A
Fusion Pro
transcriptional adaptor 2A [Source:HGNC Symbol; Acc:11531] — Known breakpoint exon(s): 15
—
TAF15
Fusion Pro, ClinEX Pro
TAF15-TAF15 , TAF15-ZNF384breast invasive carcinoma , lymphoblastic leukemiaLiterature_Curati on , Mitelman,OMIM, GenBank — Known breakpoint exon(s): 6; Chondrosarcoma, extraskeletal myxoid [OMIM 601574]
—
TAL1
Fusion Pro, ClinEX Pro
T-cell acute lymphocytic leukemia 1 [Source:HGNC Symbol; Acc:11556] — Known breakpoint exon(s): 4,5; Leukemia, T-cell acute lymphocytic, somatic [OMIM 187040]
—
TBCEL
Fusion Pro
TECTA-TBCEL breast neoplasm Cosmic — Known breakpoint exon(s): 8
—
TBL1XR1
Fusion Pro, ClinEX Pro
TBL1XR1-TP63 , TPM4- TBL1XR1 DLBCL(DLBCL)ChimerPub-Plus , ChiTaRs — Known breakpoint exon(s): 4,7,14; Mental retardation, autosomal dominant 41; Pierpont syndrome [OMIM 608628]
—
TCEA1
Fusion Pro
transcription elongation factor A (SII), 1 [Source:HGNC Symbol; Acc:11612] — Known breakpoint exon(s): 1
—
TCF12
Fusion Pro, ClinEX Pro
TCF12-TCF12 ChiTaRs — Known breakpoint exon(s): 5; Craniosynostosis 3 [OMIM 600480]
—
TCF7L2
Fusion Pro, ClinEX Pro
VTI1A-TCF7L2 LAML TCGA_RNA-Seq — Known breakpoint exon(s): 4,5; {Diabetes mellitus, type 2, susceptibility to} [OMIM 602228]
—
TECTA
Fusion Pro, ClinEX Pro
tectorin alpha [Source:HGNC Symbol; Acc:11720] — Known breakpoint exon(s): 7; Deafness, autosomal dominant 8/12; Deafness, autosomal recessive 21 [OMIM 602574]
—
TET1
Fusion Pro
tet methylcytosine dioxygenase 1 [Source:HGNC Symbol; Acc:29484] — Known breakpoint exon(s): 9,10
—
TFE3
Fusion Pro, ClinEX Pro
transcription factor binding to IGHM enhancer 3 [Source:HGNC Symbol; Acc:11752] — Known breakpoint exon(s): 3,4,5,6; Renal cell carcinoma, papillary, 1 [OMIM 314310]
—
TFG
Fusion Pro, ClinEX Pro
TRK-fused gene [Source:HGNC Symbol; Acc:11758] — Known breakpoint exon(s): 4,5,6,7; ?Spastic paraplegia 57, autosomal recessive; Hereditary motor and sensory neuropathy, Okinawa type [OMIM 602498]
—
TMCC1
Fusion Pro
TMCC1-TMCC1 ChiTaRs — Known breakpoint exon(s): 4
—
TMPRSS2
Fusion Pro
transmembrane protease, serine 2 [Source:HGNC Symbol; Acc:11876] — Known breakpoint exon(s): 3,4,5
—
TOP3A
Fusion Pro, ClinEX Pro
ZCCHC8-TOP3A BLCA TCGA_RNA-Seq — Known breakpoint exon(s): 1; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5; Microcephaly, growth restriction, and increased sister chromatid exchange 2 [OMIM 601243]
—
TP63
Fusion Pro, ClinEX Pro
tumor protein p63 [Source:HGNC Symbol; Acc:15979] — Known breakpoint exon(s): 4; ADULT syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Hay-Wells syndrome; Limb-mammary syndrome; Orofacial cleft 8; Rapp-Hodgkin syndrome; Split-hand/foot malformation 4 [OMIM 603273]
—
TPM3
Fusion Pro, ClinEX Pro
tropomyosin 3 [Source:HGNC Symbol; Acc:12012] — Known breakpoint exon(s): 2,7,8; CAP myopathy 1; Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy 1, autosomal dominant or recessive [OMIM 191030]
—
TPM4
Fusion Pro
tropomyosin 4 [Source:HGNC Symbol; Acc:12013] — Known breakpoint exon(s): 7
—
TPR
Fusion Pro
translocated promoter region, nuclear basket protein [Source:HGNC Symbol; Acc:12017] — Known breakpoint exon(s): 6,15,21
—
TRIM24
Fusion Pro
tripartite motif containing 24 [Source:HGNC Symbol; Acc:11812] — Known breakpoint exon(s): 5,9
—
TRIM27
Fusion Pro
tripartite motif containing 27 [Source:HGNC Symbol; Acc:9975] — Known breakpoint exon(s): 3
—
TRIM33
Fusion Pro
TRIM33-TRIM33 ChiTaRs — Known breakpoint exon(s): 16,17
—
UBE2L3
Fusion Pro
ubiquitin-conjugating enzyme E2L 3 [Source:HGNC Symbol; Acc:12488] — Known breakpoint exon(s): 3
—
USH1G
Fusion Pro, ClinEX Pro
Usher syndrome 1G (autosomal recessive) [Source:HGNC Symbol; Acc:16356] — Known breakpoint exon(s): 3; Usher syndrome, type 1G [OMIM 607696]
—
USP6
Fusion Pro
ubiquitin specific peptidase 6 (Tre-2 oncogene) [Source:HGNC Symbol; Acc:12629] — Known breakpoint exon(s): 1,2
—
VTI1A
Fusion Pro
vesicle transport through interaction with t-SNAREs 1A [Source:HGNC Symbol; Acc:17792] — Known breakpoint exon(s): 2,3,4
—
WDFY2
Fusion Pro
WD repeat and FYVE domain containing 2 [Source:HGNC Symbol; Acc:20482] — Known breakpoint exon(s): 3
—
WIF1
Fusion Pro
WNT inhibitory factor 1 [Source:HGNC Symbol; Acc:18081] — Known breakpoint exon(s): 3,4,9,10
—
YWHAE
Fusion Pro
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon [Source:HGNC Symbol; Acc:12851] — Known breakpoint exon(s): 5
—
YY1
Fusion Pro, ClinEX Pro
YY1-YY1 ChiTaRs — Known breakpoint exon(s): 1,2; Gabriele-de Vries syndrome [OMIM 600013]
—
ZC3H7B
Fusion Pro
ZC3H7B-ZC3H7B ChiTaRs — Known breakpoint exon(s): 10
—
ZCCHC8
Fusion Pro, ClinEX Pro
zinc finger, CCHC domain containing 8 [Source:HGNC Symbol; Acc:25265] — Known breakpoint exon(s): 2; ?Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [OMIM 616381]
—
ZNF384
Fusion Pro
zinc finger protein 384 [Source:HGNC Symbol; Acc:11955] — Known breakpoint exon(s): 1,3
—
ZNF444
Fusion Pro
zinc finger protein 444 [Source:HGNC Symbol; Acc:16052] — Known breakpoint exon(s): 5
—
ZNF703
Fusion Pro
zinc finger protein 703 [Source:HGNC Symbol; Acc:25883] — Known breakpoint exon(s): 2
—
ZSCAN30
Fusion Pro
zinc finger and SCAN domain containing 30 [Source:HGNC Symbol; Acc:33517] — Known breakpoint exon(s): 3
—
A2M
ClinEX Pro
{Alzheimer disease, susceptibility to} [OMIM 103950]
—
A2ML1
ClinEX Pro
{Otitis media, susceptibility to} [OMIM 610627]
—
A4GALT
ClinEX Pro
[Blood group, P1Pk system, p phenotype]; [Blood group, P1Pk system, P(2) phenotype]; NOR polyagglutination syndrome [OMIM 607922]
—
AAAS
ClinEX Pro
Achalasia-addisonianism-alacrimia syndrome [OMIM 605378]
—
AAGAB
ClinEX Pro
Keratoderma, palmoplantar, punctate type IA [OMIM 614888]
—
AARS1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2N; Developmental and epileptic encephalopathy 29 [OMIM 601065]
—
AARS2
ClinEX Pro
Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure [OMIM 612035]
—
AASS
ClinEX Pro
Hyperlysinemia [OMIM 605113]
—
ABAT
ClinEX Pro
GABA-transaminase deficiency [OMIM 137150]
—
ABCA1
ClinEX Pro
HDL deficiency, familial, 1; Tangier disease [OMIM 600046]
—
ABCA12
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 4A; Ichthyosis, congenital, autosomal recessive 4B (harlequin) [OMIM 607800]
—
ABCA2
ClinEX Pro
Intellectual developmental disorder with poor growth and with or without seizures or ataxia [OMIM 600047]
—
ABCA3
ClinEX Pro
Surfactant metabolism dysfunction, pulmonary, 3 [OMIM 601615]
—
ABCA4
ClinEX Pro
{Macular degeneration, age-related, 2}; Cone-rod dystrophy 3; Fundus flavimaculatus; Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Stargardt disease 1 [OMIM 601691]
—
ABCA5
ClinEX Pro
?Hypertrichosis, congenital generalized, with gingival hyperplasia [OMIM 612503]
—
ABCA7
ClinEX Pro
{Alzheimer disease 9, susceptibility to} [OMIM 605414]
—
ABCB1
ClinEX Pro
{Colchicine resistance}; {Inflammatory bowel disease 13} [OMIM 171050]
—
ABCB11
ClinEX Pro
Cholestasis, benign recurrent intrahepatic, 2; Cholestasis, progressive familial intrahepatic 2 [OMIM 603201]
—
ABCB4
ClinEX Pro
Cholestasis, intrahepatic, of pregnancy, 3; Cholestasis, progressive familial intrahepatic 3; Gallbladder disease 1 [OMIM 171060]
—
ABCB6
ClinEX Pro
[Blood group, Langereis system]; Dyschromatosis universalis hereditaria 3; Microphthalmia, isolated, with coloboma 7; Pseudohyperkalemia, familial, 2, due to red cell leak [OMIM 605452]
—
ABCB7
ClinEX Pro
Anemia, sideroblastic, with ataxia [OMIM 300135]
—
ABCC1
ClinEX Pro
?Deafness, autosomal dominant 77 [OMIM 158343]
—
ABCC11
ClinEX Pro
[Axillary odor, variation in]; [Colostrum secretion, variation in]; [Earwax, wet/dry] [OMIM 607040]
—
ABCC2
ClinEX Pro
Dubin-Johnson syndrome [OMIM 601107]
—
ABCD3
ClinEX Pro
?Bile acid synthesis defect, congenital, 5 [OMIM 170995]
—
ABCG2
ClinEX Pro
[Junior blood group system]; [Uric acid concentration, serum, QTL1] [OMIM 603756]
—
ABHD12
ClinEX Pro
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [OMIM 613599]
—
ABHD16A
ClinEX Pro
Spastic paraplegia 86, autosomal recessive [OMIM 142620]
—
ABHD5
ClinEX Pro
Chanarin-Dorfman syndrome [OMIM 604780]
—
ABO
ClinEX Pro
[Blood group, ABO system] [OMIM 110300]
—
ACACA
ClinEX Pro
Acetyl-CoA carboxylase deficiency [OMIM 200350]
—
ACAN
ClinEX Pro
?Spondyloepiphyseal dysplasia, Kimberley type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans; Spondyloepimetaphyseal dysplasia, aggrecan type [OMIM 155760]
—
ACAT2
ClinEX Pro
?ACAT2 deficiency [OMIM 100678]
—
ACBD5
ClinEX Pro
Retinal dystrophy with leukodystrophy [OMIM 616618]
—
ACD
ClinEX Pro
?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 [OMIM 609377]
—
ACE
ClinEX Pro
[Angiotensin I-converting enzyme, benign serum increase]; {Microvascular complications of diabetes 3}; {Myocardial infarction, susceptibility to}; {SARS, progression of}; {Stroke, hemorrhagic}; Renal tubular dysgenesis [OMIM 106180]
—
ACER3
ClinEX Pro
?Leukodystrophy, progressive, early childhood-onset [OMIM 617036]
—
ACHE
ClinEX Pro
[Blood group, Yt system] [OMIM 100740]
—
ACKR1
ClinEX Pro
[Blood group, Duffy system]; [White blood cell count QTL]; {Malaria, vivax, protection against} [OMIM 613665]
—
ACKR3
ClinEX Pro
?Oculomotor-abducens synkinesis [OMIM 610376]
—
ACO2
ClinEX Pro
?Optic atrophy 9; Infantile cerebellar-retinal degeneration [OMIM 100850]
—
ACOX1
ClinEX Pro
Mitchell syndrome; Peroxisomal acyl-CoA oxidase deficiency [OMIM 609751]
—
ACOX2
ClinEX Pro
Bile acid synthesis defect, congenital, 6 [OMIM 601641]
—
ACP2
ClinEX Pro
?Lysosomal acid phosphatase deficiency [OMIM 171650]
—
ACP4
ClinEX Pro
Amelogenesis imperfecta, type IJ [OMIM 606362]
—
ACP5
ClinEX Pro
Spondyloenchondrodysplasia with immune dysregulation [OMIM 171640]
—
ACR
ClinEX Pro
?Male infertility due to acrosin deficiency [OMIM 102480]
—
ACSF3
ClinEX Pro
Combined malonic and methylmalonic aciduria [OMIM 614245]
—
ACSL4
ClinEX Pro
Mental retardation, X-linked 63 [OMIM 300157]
—
ACSL6
ClinEX Pro
Myelodysplastic syndrome; Myelogenous leukemia, acute [OMIM 604443]
—
ACSM3
ClinEX Pro
{?Hypertension, essential} [OMIM 145505]
—
ACTB
ClinEX Pro
?Dystonia, juvenile-onset; Baraitser-Winter syndrome 1 [OMIM 102630]
—
ACTG1
ClinEX Pro
Baraitser-Winter syndrome 2; Deafness, autosomal dominant 20/26 [OMIM 102560]
—
ACTG2
ClinEX Pro
Visceral myopathy [OMIM 102545]
—
ACTL6B
ClinEX Pro
Developmental and epileptic encephalopathy 76; Intellectual developmental disorder with severe speech and ambulation defects [OMIM 612458]
—
ACTL9
ClinEX Pro
Spermatogenic failure 53 [OMIM 619251]
—
ACTN1
ClinEX Pro
Bleeding disorder, platelet-type, 15 [OMIM 102575]
—
ACTN3
ClinEX Pro
[Alpha-actinin-3 deficiency]; [Sprinting performance] [OMIM 102574]
—
ACVR1
ClinEX Pro
Fibrodysplasia ossificans progressiva [OMIM 102576]
—
ACVR1B
ClinEX Pro
Pancreatic cancer, somatic [OMIM 601300]
—
ACVR2B
ClinEX Pro
Heterotaxy, visceral, 4, autosomal [OMIM 602730]
—
ACY1
ClinEX Pro
Aminoacylase 1 deficiency [OMIM 104620]
—
ADA2
ClinEX Pro
?Sneddon syndrome; Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome [OMIM 607575]
—
ADAM10
ClinEX Pro
{Alzheimer disease 18, susceptibility to}; Reticulate acropigmentation of Kitamura [OMIM 602192]
—
ADAM17
ClinEX Pro
?Inflammatory skin and bowel disease, neonatal, 1 [OMIM 603639]
—
ADAM22
ClinEX Pro
Developmental and epileptic encephalopathy 61 [OMIM 603709]
—
ADAM9
ClinEX Pro
Cone-rod dystrophy 9 [OMIM 602713]
—
ADAMTS10
ClinEX Pro
Weill-Marchesani syndrome 1, recessive [OMIM 608990]
—
ADAMTS17
ClinEX Pro
Weill-Marchesani 4 syndrome, recessive [OMIM 607511]
—
ADAMTS18
ClinEX Pro
Microcornea, myopic chorioretinal atrophy, and telecanthus [OMIM 607512]
—
ADAMTS2
ClinEX Pro
Ehlers-Danlos syndrome, dermatosparaxis type [OMIM 604539]
—
ADAMTS3
ClinEX Pro
Hennekam lymphangiectasia-lymphedema syndrome 3 [OMIM 605011]
—
ADAMTSL2
ClinEX Pro
Geleophysic dysplasia 1 [OMIM 612277]
—
ADAMTSL4
ClinEX Pro
Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive [OMIM 610113]
—
ADAR
ClinEX Pro
Aicardi-Goutieres syndrome 6; Dyschromatosis symmetrica hereditaria [OMIM 146920]
—
ADARB1
ClinEX Pro
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures [OMIM 601218]
—
ADAT3
ClinEX Pro
Mental retardation, autosomal recessive 36 [OMIM 615302]
—
ADCY1
ClinEX Pro
?Deafness, autosomal recessive 44 [OMIM 103072]
—
ADCY10
ClinEX Pro
{Hypercalciuria, absorptive, susceptibility to} [OMIM 605205]
—
ADCY3
ClinEX Pro
{Obesity, susceptibility to, BMIQ19} [OMIM 600291]
—
ADCY5
ClinEX Pro
Dyskinesia, familial, with facial myokymia [OMIM 600293]
—
ADCY6
ClinEX Pro
Lethal congenital contracture syndrome 8 [OMIM 600294]
—
ADD1
ClinEX Pro
{Hypertension, essential, salt-sensitive} [OMIM 102680]
—
ADD3
ClinEX Pro
Cerebral palsy, spastic quadriplegic, 3 [OMIM 601568]
—
ADGRE2
ClinEX Pro
Vibratory urticaria [OMIM 606100]
—
ADGRG1
ClinEX Pro
Polymicrogyria, bilateral frontoparietal; Polymicrogyria, bilateral perisylvian [OMIM 604110]
—
ADGRG2
ClinEX Pro
Congenital bilateral absence of vas deferens, X-linked [OMIM 300572]
—
ADGRG6
ClinEX Pro
Lethal congenital contracture syndrome 9 [OMIM 612243]
—
ADGRV1
ClinEX Pro
?Febrile seizures, familial, 4; Usher syndrome, type 2C; Usher syndrome, type 2C, GPR98/PDZD7 digenic [OMIM 602851]
—
ADH1B
ClinEX Pro
{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}; {Alcohol dependence, protection against} [OMIM 103720]
—
ADH1C
ClinEX Pro
{Alcohol dependence, protection against}; {Parkinson disease, susceptibility to} [OMIM 103730]
—
ADH5
ClinEX Pro
AMED syndrome, digenic [OMIM 103710]
—
ADIPOQ
ClinEX Pro
Adiponectin deficiency [OMIM 605441]
—
ADNP
ClinEX Pro
Helsmoortel-van der Aa syndrome [OMIM 611386]
—
ADPRS
ClinEX Pro
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [OMIM 610624]
—
ADRA2C
ClinEX Pro
{Congestive heart failure and beta-blocker response, modifier of} [OMIM 104250]
—
ADRB1
ClinEX Pro
[Resting heart rate]; [Short sleep, familial natural, 2] [OMIM 109630]
—
ADRB2
ClinEX Pro
{Asthma, nocturnal, susceptibility to}; {Obesity, susceptibility to}; Beta-2- adrenoreceptor agonist, reduced response to [OMIM 109690]
—
ADRB3
ClinEX Pro
{Obesity, susceptibility to} [OMIM 109691]
—
ADSL
ClinEX Pro
Adenylosuccinase deficiency [OMIM 608222]
—
ADSS1
ClinEX Pro
Myopathy, distal, 5 [OMIM 612498]
—
AEBP1
ClinEX Pro
Ehlers-Danlos syndrome, classic-like, 2 [OMIM 602981]
—
AFF2
ClinEX Pro
Intellectual developmental disorder, X-linked 109 [OMIM 300806]
—
AFG3L2
ClinEX Pro
Optic atrophy 12; Spastic ataxia 5, autosomal recessive; Spinocerebellar ataxia 28 [OMIM 604581]
—
AFP
ClinEX Pro
[Hereditary persistence of alpha-fetoprotein]; Alpha-fetoprotein deficiency [OMIM 104150]
—
AGA
ClinEX Pro
Aspartylglucosaminuria [OMIM 613228]
—
AGBL1
ClinEX Pro
Corneal dystrophy, Fuchs endothelial, 8 [OMIM 615496]
—
AGBL5
ClinEX Pro
Retinitis pigmentosa 75 [OMIM 615900]
—
AGK
ClinEX Pro
Cataract 38, autosomal recessive; Sengers syndrome [OMIM 610345]
—
AGO2
ClinEX Pro
Lessel-Kreienkamp syndrome [OMIM 606229]
—
AGPAT2
ClinEX Pro
Lipodystrophy, congenital generalized, type 1 [OMIM 603100]
—
AGPS
ClinEX Pro
Rhizomelic chondrodysplasia punctata, type 3 [OMIM 603051]
—
AGRP
ClinEX Pro
{Leanness, inherited}; {Obesity, late-onset} [OMIM 602311]
—
AGT
ClinEX Pro
{Hypertension, essential, susceptibility to}; {Preeclampsia, susceptibility to}; Renal tubular dysgenesis [OMIM 106150]
—
AGTPBP1
ClinEX Pro
Neurodegeneration, childhood-onset, with cerebellar atrophy [OMIM 606830]
—
AGTR1
ClinEX Pro
{Hypertension, essential}; Renal tubular dysgenesis [OMIM 106165]
—
AGXT
ClinEX Pro
Hyperoxaluria, primary, type 1 [OMIM 604285]
—
AGXT2
ClinEX Pro
[Beta-aminoisobutyric acid, urinary excretion of] [OMIM 612471]
—
AHDC1
ClinEX Pro
Xia-Gibbs syndrome [OMIM 615790]
—
AHI1
ClinEX Pro
Joubert syndrome 3 [OMIM 608894]
—
AHR
ClinEX Pro
?Retinitis pigmentosa 85 [OMIM 600253]
—
AHSG
ClinEX Pro
?Alopecia-mental retardation syndrome 1 [OMIM 138680]
—
AICDA
ClinEX Pro
Immunodeficiency with hyper-IgM, type 2 [OMIM 605257]
—
AIFM1
ClinEX Pro
Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, X- linked, with hypomyelinating leukodystrophy [OMIM 300169]
—
AIMP1
ClinEX Pro
Leukodystrophy, hypomyelinating, 3 [OMIM 603605]
—
AIMP2
ClinEX Pro
Leukodystrophy, hypomyelinating, 17 [OMIM 600859]
—
AIP
ClinEX Pro
Pituitary adenoma 1, multiple types; Pituitary adenoma predisposition [OMIM 605555]
—
AIPL1
ClinEX Pro
Cone-rod dystrophy; Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile [OMIM 604392]
—
AK1
ClinEX Pro
Hemolytic anemia due to adenylate kinase deficiency [OMIM 103000]
—
AK7
ClinEX Pro
?Spermatogenic failure 27 [OMIM 615364]
—
AKAP10
ClinEX Pro
{Cardiac conduction defect, susceptibility to} [OMIM 604694]
—
AKR1C2
ClinEX Pro
46XY sex reversal 8 [OMIM 600450]
—
AKR1C4
ClinEX Pro
{46XY sex reversal 8, modifier of} [OMIM 600451]
—
AKR1D1
ClinEX Pro
Bile acid synthesis defect, congenital, 2 [OMIM 604741]
—
AKT2
ClinEX Pro
Diabetes mellitus, type II; Hypoinsulinemic hypoglycemia with hemihypertrophy [OMIM 164731]
—
AKT3
ClinEX Pro
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [OMIM 611223]
—
ALAD
ClinEX Pro
{Lead poisoning, susceptibility to}; Porphyria, acute hepatic [OMIM 125270]
—
ALAS2
ClinEX Pro
Anemia, sideroblastic, 1; Protoporphyria, erythropoietic, X-linked [OMIM 301300]
—
ALB
ClinEX Pro
[Dysalbuminemic hyperthyroxinemia]; Analbuminemia [OMIM 103600]
—
ALDH18A1
ClinEX Pro
Cutis laxa, autosomal dominant 3; Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive [OMIM 138250]
—
ALDH1A3
ClinEX Pro
Microphthalmia, isolated 8 [OMIM 600463]
—
ALDH3A2
ClinEX Pro
Sjogren-Larsson syndrome [OMIM 609523]
—
ALDH4A1
ClinEX Pro
Hyperprolinemia, type II [OMIM 606811]
—
ALDH5A1
ClinEX Pro
Succinic semialdehyde dehydrogenase deficiency [OMIM 610045]
—
ALDH6A1
ClinEX Pro
Methylmalonate semialdehyde dehydrogenase deficiency [OMIM 603178]
—
ALDOA
ClinEX Pro
Glycogen storage disease XII [OMIM 103850]
—
ALG1
ClinEX Pro
Congenital disorder of glycosylation, type Ik [OMIM 605907]
—
ALG10B
ClinEX Pro
{Long QT syndrome, acquired, reduced susceptibility to} [OMIM 603313]
—
ALG11
ClinEX Pro
Congenital disorder of glycosylation, type Ip [OMIM 613666]
—
ALG12
ClinEX Pro
Congenital disorder of glycosylation, type Ig [OMIM 607144]
—
ALG13
ClinEX Pro
?Congenital disorder of glycosylation, type Is; Developmental and epileptic encephalopathy 36 [OMIM 300776]
—
ALG2
ClinEX Pro
?Congenital disorder of glycosylation, type Ii; Myasthenic syndrome, congenital, 14, with tubular aggregates [OMIM 607905]
—
ALG3
ClinEX Pro
Congenital disorder of glycosylation, type Id [OMIM 608750]
—
ALG6
ClinEX Pro
Congenital disorder of glycosylation, type Ic [OMIM 604566]
—
ALG8
ClinEX Pro
Congenital disorder of glycosylation, type Ih; Polycystic liver disease 3 with or without kidney cysts [OMIM 608103]
—
ALG9
ClinEX Pro
Congenital disorder of glycosylation, type Il; Gillessen-Kaesbach-Nishimura syndrome [OMIM 606941]
—
ALKBH8
ClinEX Pro
Intellectual developmental disorder, autosomal recessive 71 [OMIM 613306]
—
ALOX12B
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 2 [OMIM 603741]
—
ALOX5
ClinEX Pro
{Asthma, diminished response to antileukotriene treatment in}; {Atherosclerosis, susceptibility to} [OMIM 152390]
—
ALOX5AP
ClinEX Pro
{Stroke, susceptibility to} [OMIM 603700]
—
ALOXE3
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 3 [OMIM 607206]
—
ALPK1
ClinEX Pro
ROSAH syndrome [OMIM 607347]
—
ALS2
ClinEX Pro
Amyotrophic lateral sclerosis 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending [OMIM 606352]
—
ALX1
ClinEX Pro
Frontonasal dysplasia 3 [OMIM 601527]
—
ALX3
ClinEX Pro
Frontonasal dysplasia 1 [OMIM 606014]
—
ALX4
ClinEX Pro
{Craniosynostosis 5, susceptibility to}; Frontonasal dysplasia 2; Parietal foramina 2 [OMIM 605420]
—
AMACR
ClinEX Pro
Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4 [OMIM 604489]
—
AMBN
ClinEX Pro
Amelogenesis imperfecta, type IF [OMIM 601259]
—
AMELX
ClinEX Pro
Amelogenesis imperfecta, type 1E [OMIM 300391]
—
AMER1
ClinEX Pro
Osteopathia striata with cranial sclerosis [OMIM 300647]
—
AMH
ClinEX Pro
Persistent Mullerian duct syndrome, type I [OMIM 600957]
—
AMHR2
ClinEX Pro
Persistent Mullerian duct syndrome, type II [OMIM 600956]
—
AMMECR1
ClinEX Pro
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis [OMIM 300195]
—
AMPD1
ClinEX Pro
Myopathy due to myoadenylate deaminase deficiency [OMIM 102770]
—
AMPD2
ClinEX Pro
?Spastic paraplegia 63; Pontocerebellar hypoplasia, type 9 [OMIM 102771]
—
AMPD3
ClinEX Pro
[AMP deaminase deficiency, erythrocytic] [OMIM 102772]
—
AMT
ClinEX Pro
Glycine encephalopathy [OMIM 238310]
—
AMTN
ClinEX Pro
?Amelogenesis imperfecta, type IIIB [OMIM 610912]
—
ANGPT1
ClinEX Pro
?Angioedema, hereditary, 5 [OMIM 601667]
—
ANGPT2
ClinEX Pro
Lymphatic malformation 10 [OMIM 601922]
—
ANAPC1
ClinEX Pro
Rothmund-Thomson syndrome, type 1 [OMIM 608473]
—
ANAPC7
ClinEX Pro
Ferguson-Bonni neurodevelopmental syndrome [OMIM 606949]
—
ANG
ClinEX Pro
Amyotrophic lateral sclerosis 9 [OMIM 105850]
—
ANGPTL3
ClinEX Pro
Hypobetalipoproteinemia, familial, 2 [OMIM 604774]
—
ANGPTL4
ClinEX Pro
Plasma triglyceride level QTL, low [OMIM 605910]
—
ANK3
ClinEX Pro
Mental retardation, autosomal recessive, 37 [OMIM 600465]
—
ANKH
ClinEX Pro
Chondrocalcinosis 2; Craniometaphyseal dysplasia [OMIM 605145]
—
ANKLE2
ClinEX Pro
Microcephaly 16, primary, autosomal recessive [OMIM 616062]
—
ANKRD11
ClinEX Pro
KBG syndrome [OMIM 611192]
—
ANKRD17
ClinEX Pro
Chopra-Amiel-Gordon syndrome [OMIM 615929]
—
ANKS6
ClinEX Pro
Nephronophthisis 16 [OMIM 615370]
—
ANLN
ClinEX Pro
Focal segmental glomerulosclerosis 8 [OMIM 616027]
—
ANO10
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 10 [OMIM 613726]
—
ANO3
ClinEX Pro
Dystonia 24 [OMIM 610110]
—
ANO5
ClinEX Pro
Gnathodiaphyseal dysplasia; Miyoshi muscular dystrophy 3; Muscular dystrophy, limb-girdle, autosomal recessive 12 [OMIM 608662]
—
ANO6
ClinEX Pro
Scott syndrome [OMIM 608663]
—
ANOS1
ClinEX Pro
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) [OMIM 300836]
—
ANTXR1
ClinEX Pro
{?Hemangioma, capillary infantile, susceptibility to}; GAPO syndrome [OMIM 606410]
—
ANTXR2
ClinEX Pro
Hyaline fibromatosis syndrome [OMIM 608041]
—
ANXA11
ClinEX Pro
Amytrophic lateral sclerosis 23 [OMIM 602572]
—
AOPEP ENSG0
ClinEX Pro
Dystonia 31 [OMIM 75631195600]
—
AP1B1
ClinEX Pro
Keratitis-ichthyosis-deafness syndrome, autosomal recessive [OMIM 600157]
—
AP1G1
ClinEX Pro
Usmani-Riazuddin syndrome, autosomal dominant [OMIM 603533]
—
AP1S1
ClinEX Pro
MEDNIK syndrome [OMIM 603531]
—
AP1S2
ClinEX Pro
Mental retardation, X-linked syndromic 5 [OMIM 300629]
—
AP1S3
ClinEX Pro
{Psoriasis 15, pustular, susceptibility to} [OMIM 615781]
—
AP2M1
ClinEX Pro
Intellectual developmental disorder 60 with seizures [OMIM 601024]
—
AP2S1
ClinEX Pro
Hypocalciuric hypercalcemia, type III [OMIM 602242]
—
AP3B1
ClinEX Pro
Hermansky-Pudlak syndrome 2 [OMIM 603401]
—
AP3B2
ClinEX Pro
Developmental and epileptic encephalopathy 48 [OMIM 602166]
—
AP3D1
ClinEX Pro
?Hermansky-Pudlak syndrome 10 [OMIM 607246]
—
AP4B1
ClinEX Pro
Spastic paraplegia 47, autosomal recessive [OMIM 607245]
—
AP4E1
ClinEX Pro
Spastic paraplegia 51, autosomal recessive; Stuttering, familial persistent, 1 [OMIM 607244]
—
AP4M1
ClinEX Pro
Spastic paraplegia 50, autosomal recessive [OMIM 602296]
—
AP4S1
ClinEX Pro
Spastic paraplegia 52, autosomal recessive [OMIM 607243]
—
AP5Z1
ClinEX Pro
Spastic paraplegia 48, autosomal recessive [OMIM 613653]
—
APC2
ClinEX Pro
?Sotos syndrome 3; Cortical dysplasia, complex, with other brain malformations 10 [OMIM 612034]
—
APCDD1
ClinEX Pro
Hypotrichosis 1 [OMIM 607479]
—
APCS
ClinEX Pro
{?Amyloidosis, secondary, susceptibility to} [OMIM 104770]
—
APOA2
ClinEX Pro
{Hypercholesterolemia, familial, modifier of}; Apolipoprotein A-II deficiency [OMIM 107670]
—
APOC3
ClinEX Pro
Apolipoprotein C-III deficiency [OMIM 107720]
—
APOL1
ClinEX Pro
{End-stage renal disease, nondiabetic, susceptibility to}; {Glomerulosclerosis, focal segmental, 4, susceptibility to} [OMIM 603743]
—
APOL2
ClinEX Pro
{Schizophrenia} [OMIM 607252]
—
APOL4
ClinEX Pro
{Schizophrenia} [OMIM 607254]
—
APP
ClinEX Pro
Alzheimer disease 1, familial; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants [OMIM 104760]
—
APPL1
ClinEX Pro
{Maturity-onset diabetes of the young, type 14} [OMIM 604299]
—
APRT
ClinEX Pro
Adenine phosphoribosyltransferase deficiency [OMIM 102600]
—
APTX
ClinEX Pro
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia [OMIM 606350]
—
AQP1
ClinEX Pro
[Aquaporin-1 deficiency]; [Blood group, Colton] [OMIM 107776]
—
AQP3
ClinEX Pro
[Blood group GIL] [OMIM 600170]
—
AQP5
ClinEX Pro
Palmoplantar keratoderma, Bothnian type [OMIM 600442]
—
AQP7
ClinEX Pro
[Glycerol quantitative trait locus] [OMIM 602974]
—
ARCN1
ClinEX Pro
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [OMIM 600820]
—
ARF1
ClinEX Pro
Periventricular nodular heterotopia 8 [OMIM 103180]
—
ARFGEF2
ClinEX Pro
Periventricular heterotopia with microcephaly [OMIM 605371]
—
ARHGAP31
ClinEX Pro
Adams-Oliver syndrome 1 [OMIM 610911]
—
ARHGDIA
ClinEX Pro
Nephrotic syndrome, type 8 [OMIM 601925]
—
ARHGEF1
ClinEX Pro
?Immunodeficiency 62 [OMIM 601855]
—
ARHGEF10
ClinEX Pro
?Slowed nerve conduction velocity, AD [OMIM 608136]
—
ARHGEF18
ClinEX Pro
Retinitis pigmentosa 78 [OMIM 616432]
—
ARHGEF2
ClinEX Pro
?Neurodevelopmental disorder with midbrain and hindbrain malformations [OMIM 607560]
—
ARHGEF9
ClinEX Pro
Developmental and epileptic encephalopathy 8 [OMIM 300429]
—
ARID1B
ClinEX Pro
Coffin-Siris syndrome 1 [OMIM 614556]
—
ARID2
ClinEX Pro
Coffin-Siris syndrome 6 [OMIM 609539]
—
ARL13B
ClinEX Pro
Joubert syndrome 8 [OMIM 608922]
—
ARL2
ClinEX Pro
?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 [OMIM 601175]
—
ARL2BP
ClinEX Pro
Retinitis pigmentosa with or without situs inversus [OMIM 615407]
—
ARL3
ClinEX Pro
Joubert syndrome 35; Retinitis pigmentosa 83 [OMIM 604695]
—
ARL6
ClinEX Pro
{Bardet-Biedl syndrome 1, modifier of}; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 [OMIM 608845]
—
ARL6IP1
ClinEX Pro
?Spastic paraplegia 61, autosomal recessive [OMIM 607669]
—
ARMC2
ClinEX Pro
Spermatogenic failure 38 [OMIM 618424]
—
ARMC5
ClinEX Pro
ACTH-independent macronodular adrenal hyperplasia 2 [OMIM 615549]
—
ARMC9
ClinEX Pro
Joubert syndrome 30 [OMIM 617612]
—
ARMS2
ClinEX Pro
{Macular degeneration, age-related, 8} [OMIM 611313]
—
ARNT2
ClinEX Pro
?Webb-Dattani syndrome [OMIM 606036]
—
ARR3
ClinEX Pro
Myopia 26, X-linked, female-limited [OMIM 301770]
—
ARSG
ClinEX Pro
Usher syndrome, type IV [OMIM 610008]
—
ARSK
ClinEX Pro
Mucopolysaccharidosis, type X [OMIM 610011]
—
ARSL
ClinEX Pro
Chondrodysplasia punctata, X-linked recessive [OMIM 300180]
—
ART4
ClinEX Pro
[Blood group, Dombrock] [OMIM 110600]
—
ARV1
ClinEX Pro
Developmental and epileptic encephalopathy 38 [OMIM 611647]
—
ARX
ClinEX Pro
Developmental and epileptic encephalopathy 1; Hydranencephaly with abnormal genitalia; Lissencephaly, X-linked 2; Mental retardation, X-linked 29 and others; Partington syndrome; Proud syndrome [OMIM 300382]
—
ASAH1
ClinEX Pro
Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy [OMIM 613468]
—
ASB10
ClinEX Pro
Glaucoma 1, open angle, F [OMIM 615054]
—
ASCC1
ClinEX Pro
Barrett esophagus/esophageal adenocarcinoma; Spinal muscular atrophy with congenital bone fractures 2 [OMIM 614215]
—
ASCL1
ClinEX Pro
Central hypoventilation syndrome, congenital; Haddad syndrome [OMIM 100790]
—
ASH1L
ClinEX Pro
Mental retardation, autosomal dominant 52 [OMIM 607999]
—
ASIP
ClinEX Pro
[Skin/hair/eye pigmentation 9, brown/nonbrown eyes]; [Skin/hair/eye pigmentation 9, dark/light hair] [OMIM 600201]
—
ASNS
ClinEX Pro
Asparagine synthetase deficiency [OMIM 108370]
—
ASPH
ClinEX Pro
Traboulsi syndrome [OMIM 600582]
—
ASPM
ClinEX Pro
Microcephaly 5, primary, autosomal recessive [OMIM 605481]
—
ASPN
ClinEX Pro
{Lumbar disc degeneration}; {Osteoarthritis susceptibility 3} [OMIM 608135]
—
ASPRV1
ClinEX Pro
Ichthyosis, lamellar, autosomal dominant [OMIM 611765]
—
ASTL
ClinEX Pro
?Oocyte maturation defect 11 [OMIM 608860]
—
ATG7
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 31 [OMIM 608760]
—
ASXL3
ClinEX Pro
Bainbridge-Ropers syndrome [OMIM 615115]
—
ATAD1
ClinEX Pro
Hyperekplexia 4 [OMIM 614452]
—
ATAD3A
ClinEX Pro
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [OMIM 612316]
—
ATCAY
ClinEX Pro
Ataxia, cerebellar, Cayman type [OMIM 608179]
—
ATP11A
ClinEX Pro
?Leukodystrophy, hypomyelinating, 24 [OMIM 605868]
—
ATF6
ClinEX Pro
Achromatopsia 7 [OMIM 605537]
—
ATG16L1
ClinEX Pro
{Inflammatory bowel disease (Crohn disease) 10} [OMIM 610767]
—
ATP13A3
ClinEX Pro
Pulmonary hypertension, primary, 5 [OMIM 610232]
—
ATG5
ClinEX Pro
?Spinocerebellar ataxia, autosomal recessive 25 [OMIM 604261]
—
ATL1
ClinEX Pro
Neuropathy, hereditary sensory, type ID; Spastic paraplegia 3A, autosomal dominant [OMIM 606439]
—
ATL3
ClinEX Pro
Neuropathy, hereditary sensory, type IF [OMIM 609369]
—
ATP2B1
ClinEX Pro
Intellectual developmental disorder, autosomal dominant 66 [OMIM 108731]
—
ATN1
ClinEX Pro
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies; Dentatorubral-pallidoluysian atrophy [OMIM 607462]
—
ATOH7
ClinEX Pro
Persistent hyperplastic primary vitreous, autosomal recessive [OMIM 609875]
—
ATP11C
ClinEX Pro
?Hemolytic anemia, congenital, X-linked [OMIM 300516]
—
ATP13A2
ClinEX Pro
Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive [OMIM 610513]
—
ATP5MC3
ClinEX Pro
Dystonia, early-onset, and/or spastic paraplegia [OMIM 602736]
—
ATP1A1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2DD; Hypomagnesemia, seizures, and mental retardation 2 [OMIM 182310]
—
ATP1A2
ClinEX Pro
Alternating hemiplegia of childhood 1; Migraine, familial basilar; Migraine, familial hemiplegic, 2 [OMIM 182340]
—
ATP1A3
ClinEX Pro
Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12 [OMIM 182350]
—
ATP1B1
ClinEX Pro
[Blood pressure regulation QTL] [OMIM 182330]
—
ATP2A1
ClinEX Pro
Brody myopathy [OMIM 108730]
—
ATP2B2
ClinEX Pro
{Deafness, autosomal recessive 12, modifier of} [OMIM 108733]
—
ATP2B3
ClinEX Pro
?Spinocerebellar ataxia, X-linked 1 [OMIM 300014]
—
ATP2C1
ClinEX Pro
Hailey-Hailey disease [OMIM 604384]
—
ATP5F1A
ClinEX Pro
?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 [OMIM 164360]
—
ATP5F1D
ClinEX Pro
Mitochondrial complex V (ATP synthase) deficiency [OMIM 603150]
—
ATP5F1E
ClinEX Pro
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 [OMIM 606153]
—
ATP5MK
ClinEX Pro
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 [OMIM 615204]
—
ATP6AP1
ClinEX Pro
Immunodeficiency 47 [OMIM 300197]
—
ATP6AP2
ClinEX Pro
?Parkinsonism with spasticity, X-linked; Congenital disorder of glycosylation, type IIr; Mental retardation, X-linked, syndromic, Hedera type [OMIM 300556]
—
ATP6V0A2
ClinEX Pro
Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome [OMIM 611716]
—
ATP6V1A
ClinEX Pro
Cutis laxa, autosomal recessive, type IID; Developmental and epileptic encephalopathy 93 [OMIM 607027]
—
ATP6V1B2
ClinEX Pro
Deafness, congenital, with onychodystrophy, autosomal dominant; Zimmermann-Laband syndrome 2 [OMIM 606939]
—
ATP6V1E1
ClinEX Pro
Cutis laxa, autosomal recessive, type IIC [OMIM 108746]
—
ATP8A2
ClinEX Pro
?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 [OMIM 605870]
—
ATP8B1
ClinEX Pro
Cholestasis, benign recurrent intrahepatic; Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, progressive familial intrahepatic 1 [OMIM 602397]
—
ATPAF2
ClinEX Pro
?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 [OMIM 608918]
—
ATXN1
ClinEX Pro
Spinocerebellar ataxia 1 [OMIM 601556]
—
ATXN10
ClinEX Pro
Spinocerebellar ataxia 10 [OMIM 611150]
—
ATXN2
ClinEX Pro
{Amyotrophic lateral sclerosis, susceptibility to, 13}; {Parkinson disease, late-onset, susceptibility to}; Spinocerebellar ataxia 2 [OMIM 601517]
—
ATXN3
ClinEX Pro
Machado-Joseph disease [OMIM 607047]
—
ATXN7
ClinEX Pro
Spinocerebellar ataxia 7 [OMIM 607640]
—
ATXN8
ClinEX Pro
Spinocerebellar ataxia 8 [OMIM 613289]
—
ATXN8OS
ClinEX Pro
{Parkinson disease, susceptibility to}; Spinocerebellar ataxia 8 [OMIM 603680]
—
AURKA
ClinEX Pro
{Colon cancer, susceptibility to} [OMIM 603072]
—
B4GALNT2
ClinEX Pro
[Blood group, Sid system] [OMIM 111730]
—
AURKC
ClinEX Pro
Spermatogenic failure 5 [OMIM 603495]
—
AUTS2
ClinEX Pro
Mental retardation, autosomal dominant 26 [OMIM 607270]
—
AVIL
ClinEX Pro
Nephrotic syndrome, type 21 [OMIM 613397]
—
AVP
ClinEX Pro
Diabetes insipidus, neurohypophyseal [OMIM 192340]
—
AXIN1
ClinEX Pro
?Caudal duplication anomaly; Hepatocellular carcinoma, somatic [OMIM 603816]
—
AXIN2
ClinEX Pro
Colorectal cancer, somatic; Oligodontia-colorectal cancer syndrome [OMIM 604025]
—
BAG5
ClinEX Pro
Cardiomyopathy, dilated, 2F [OMIM 603885]
—
B3GALNT1
ClinEX Pro
[Blood group, globoside system]; [Blood group, P1PK system, P(k) phenotype] [OMIM 603094]
—
B3GALNT2
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 [OMIM 610194]
—
B3GALT6
ClinEX Pro
Al-Gazali syndrome; Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [OMIM 615291]
—
B3GAT3
ClinEX Pro
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects [OMIM 606374]
—
B3GLCT
ClinEX Pro
Peters-plus syndrome [OMIM 610308]
—
B4GALNT1
ClinEX Pro
Spastic paraplegia 26, autosomal recessive [OMIM 601873]
—
B4GALT1
ClinEX Pro
Congenital disorder of glycosylation, type IId [OMIM 137060]
—
B4GALT7
ClinEX Pro
Ehlers-Danlos syndrome, spondylodysplastic type, 1 [OMIM 604327]
—
B4GAT1
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 [OMIM 605517]
—
B9D1
ClinEX Pro
?Meckel syndrome 9; Joubert syndrome 27 [OMIM 614144]
—
B9D2
ClinEX Pro
?Meckel syndrome 10; Joubert syndrome 34 [OMIM 611951]
—
BAAT
ClinEX Pro
Bile acid conjugation defect 1; Hypercholanemia, familial [OMIM 602938]
—
BACH2
ClinEX Pro
Immunodeficiency 60 [OMIM 605394]
—
BANF1
ClinEX Pro
Nestor-Guillermo progeria syndrome [OMIM 603811]
—
BAP1
ClinEX Pro
Tumor predisposition syndrome [OMIM 603089]
—
BAX
ClinEX Pro
Colorectal cancer, somatic; T-cell acute lymphoblastic leukemia, somatic [OMIM 600040]
—
BBIP1
ClinEX Pro
?Bardet-Biedl syndrome 18 [OMIM 613605]
—
BBS12
ClinEX Pro
Bardet-Biedl syndrome 12 [OMIM 610683]
—
BBS4
ClinEX Pro
Bardet-Biedl syndrome 4 [OMIM 600374]
—
BBS5
ClinEX Pro
Bardet-Biedl syndrome 5 [OMIM 603650]
—
BBS7
ClinEX Pro
Bardet-Biedl syndrome 7 [OMIM 607590]
—
BCAM
ClinEX Pro
[Blood group, Auberger system]; [Blood group, Lutheran null]; [Blood group, Lutheran system] [OMIM 612773]
—
BCAP31
ClinEX Pro
Deafness, dystonia, and cerebral hypomyelination [OMIM 300398]
—
BCAS3
ClinEX Pro
Hengel-Maroofian-Schols syndrome [OMIM 607470]
—
BCAT2
ClinEX Pro
?Hypervalinemia or hyperleucine-isoleucinemia [OMIM 113530]
—
BCL10
ClinEX Pro
?Immunodeficiency 37; {Lymphoma, follicular, somatic}; {Male germ cell tumor, somatic}; {Mesothelioma, somatic}; {Sezary syndrome, somatic}; Lymphoma, MALT, somatic [OMIM 603517]
—
BCL11A
ClinEX Pro
Dias-Logan syndrome [OMIM 606557]
—
BCL11B
ClinEX Pro
Immunodeficiency 49; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities [OMIM 606558]
—
BCL3
ClinEX Pro
Leukemia/lymphoma, B-cell, 3 [OMIM 109560]
—
BICRA
ClinEX Pro
Coffin-Siris syndrome 12 [OMIM 605690]
—
BCL7A
ClinEX Pro
B-cell non-Hodgkin lymphoma, high-grade [OMIM 601406]
—
BCO1
ClinEX Pro
?Hypercarotenemia and vitamin A deficiency, autosomal dominant [OMIM 605748]
—
BCS1L
ClinEX Pro
Bjornstad syndrome; GRACILE syndrome; Mitochondrial complex III deficiency, nuclear type 1 [OMIM 603647]
—
BDP1
ClinEX Pro
?Deafness, autosomal recessive 112 [OMIM 607012]
—
BEAN1
ClinEX Pro
Spinocerebellar ataxia 31 [OMIM 612051]
—
BEST1
ClinEX Pro
?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2; Bestrophinopathy, autosomal recessive; Macular dystrophy, vitelliform, 2; Retinitis pigmentosa-50; Retinitis pigmentosa, concentric; Vitreoretinochoroidopathy [OMIM 607854]
—
BFSP1
ClinEX Pro
Cataract 33, multiple types [OMIM 603307]
—
BFSP2
ClinEX Pro
Cataract 12, multiple types [OMIM 603212]
—
BHLHA9
ClinEX Pro
?Camptosynpolydactyly, complex; Syndactyly, mesoaxial synostotic, with phalangeal reduction [OMIM 615416]
—
BHLHE41
ClinEX Pro
[Short sleep, familial natural, 1] [OMIM 606200]
—
BICC1
ClinEX Pro
{Renal dysplasia, cystic, susceptibility to} [OMIM 614295]
—
BICD2
ClinEX Pro
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant [OMIM 609797]
—
BIN1
ClinEX Pro
Centronuclear myopathy 2 [OMIM 601248]
—
BLK
ClinEX Pro
Maturity-onset diabetes of the young, type 11 [OMIM 191305]
—
BLOC1S3
ClinEX Pro
Hermansky-Pudlak syndrome 8 [OMIM 609762]
—
BLOC1S5
ClinEX Pro
Hermansky-Pudlak syndrome 11 [OMIM 607289]
—
BLOC1S6
ClinEX Pro
?Hermansky-pudlak syndrome 9 [OMIM 604310]
—
BLTP1
ClinEX Pro
Alkuraya-Kucinskas syndrome
—
BLVRA
ClinEX Pro
Hyperbiliverdinemia [OMIM 109750]
—
BMP1
ClinEX Pro
Osteogenesis imperfecta, type XIII [OMIM 112264]
—
BMP15
ClinEX Pro
Ovarian dysgenesis 2; Premature ovarian failure 4 [OMIM 300247]
—
BMP2
ClinEX Pro
{HFE hemochromatosis, modifier of}; Brachydactyly, type A2; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 [OMIM 112261]
—
BMP4
ClinEX Pro
Microphthalmia, syndromic 6; Orofacial cleft 11 [OMIM 112262]
—
BMPER
ClinEX Pro
Diaphanospondylodysostosis [OMIM 608699]
—
BMPR1A
ClinEX Pro
Polyposis syndrome, hereditary mixed, 2; Polyposis, juvenile intestinal [OMIM 601299]
—
BMPR1B
ClinEX Pro
Acromesomelic dysplasia, Demirhan type; Brachydactyly, type A1, D; Brachydactyly, type A2 [OMIM 603248]
—
BMPR2
ClinEX Pro
Pulmonary hypertension, familial primary, 1, with or without HHT; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine- associated; Pulmonary venoocclusive disease 1 [OMIM 600799]
—
BMS1
ClinEX Pro
?Aplasia cutis congenita, nonsyndromic [OMIM 611448]
—
BNC1
ClinEX Pro
?Premature ovarian failure 16 [OMIM 601930]
—
BNC2
ClinEX Pro
Lower urinary tract obstruction, congenital [OMIM 608669]
—
BOLA3
ClinEX Pro
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia [OMIM 613183]
—
BPGM
ClinEX Pro
Erythrocytosis, familial, 8 [OMIM 613896]
—
BPNT2
ClinEX Pro
Chondrodysplasia with joint dislocations, GPAPP type [OMIM 614010]
—
BPTF
ClinEX Pro
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies [OMIM 601819]
—
BRAT1
ClinEX Pro
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures; Rigidity and multifocal seizure syndrome, lethal neonatal [OMIM 614506]
—
BRDT
ClinEX Pro
?Spermatogenic failure 21 [OMIM 602144]
—
BRF1
ClinEX Pro
Cerebellofaciodental syndrome [OMIM 604902]
—
BRPF1
ClinEX Pro
Intellectual developmental disorder with dysmorphic facies and ptosis [OMIM 602410]
—
BRWD3
ClinEX Pro
Mental retardation, X-linked 93 [OMIM 300553]
—
BSCL2
ClinEX Pro
Encephalopathy, progressive, with or without lipodystrophy; Lipodystrophy, congenital generalized, type 2; Neuropathy, distal hereditary motor, type VC; Silver spastic paraplegia syndrome [OMIM 606158]
—
BSG
ClinEX Pro
[Blood group, OK] [OMIM 109480]
—
BTG4
ClinEX Pro
Oocyte maturation defect 8 [OMIM 605673]
—
BTNL2
ClinEX Pro
{Sarcoidosis, susceptibility to, 2} [OMIM 606000]
—
BUB1
ClinEX Pro
Colorectal cancer with chromosomal instability, somatic [OMIM 602452]
—
BUB1B
ClinEX Pro
[Premature chromatid separation trait]; Colorectal cancer, somatic; Mosaic variegated aneuploidy syndrome 1 [OMIM 602860]
—
BVES
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal recessive 25 [OMIM 604577]
—
C11orf80
ClinEX Pro
Hydatidiform mole, recurrent, 4 [OMIM 616109]
—
C12orf4
ClinEX Pro
Mental retardation, autosomal recessive 66 [OMIM 616082]
—
C12orf57
ClinEX Pro
Temtamy syndrome [OMIM 615140]
—
C14orf39
ClinEX Pro
?Premature ovarian failure 18; Spermatogenic failure 52 [OMIM 617307]
—
C19orf12
ClinEX Pro
?Spastic paraplegia 43, autosomal recessive; Neurodegeneration with brain iron accumulation 4 [OMIM 614297]
—
C1GALT1C1
ClinEX Pro
Tn polyagglutination syndrome, somatic [OMIM 300611]
—
C1QA
ClinEX Pro
C1q deficiency [OMIM 120550]
—
C1QB
ClinEX Pro
C1q deficiency [OMIM 120570]
—
C1QBP
ClinEX Pro
Combined oxidative phosphorylation deficiency 33 [OMIM 601269]
—
C1QC
ClinEX Pro
C1q deficiency [OMIM 120575]
—
C1QTNF5
ClinEX Pro
Retinal degeneration, late-onset, autosomal dominant [OMIM 608752]
—
C1R
ClinEX Pro
Ehlers-Danlos syndrome, periodontal type, 1 [OMIM 613785]
—
C1S
ClinEX Pro
C1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2 [OMIM 120580]
—
C2CD3
ClinEX Pro
Orofaciodigital syndrome XIV [OMIM 615944]
—
C2CD6 ENSG0
ClinEX Pro
?Spermatogenic failure 68 [OMIM 39611490776]
—
C2orf69
ClinEX Pro
Combined oxidative phosphorylation deficiency 53 [OMIM 619219]
—
C4A
ClinEX Pro
[Blood group, Rodgers]; C4a deficiency [OMIM 120810]
—
C4B
ClinEX Pro
C4B deficiency [OMIM 120820]
—
C9orf72
ClinEX Pro
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 [OMIM 614260]
—
CA12
ClinEX Pro
Hyperchlorhidrosis, isolated [OMIM 603263]
—
CA2
ClinEX Pro
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis [OMIM 611492]
—
CA8
ClinEX Pro
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 [OMIM 114815]
—
CABP2
ClinEX Pro
Deafness, autosomal recessive 93 [OMIM 607314]
—
CABP4
ClinEX Pro
Cone-rod synaptic disorder, congenital nonprogressive [OMIM 608965]
—
CACNA1A
ClinEX Pro
Developemental and epileptic encephalopathy 42; Episodic ataxia, type 2; Migraine, familial hemiplegic, 1; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6 [OMIM 601011]
—
CACNA1B
ClinEX Pro
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements [OMIM 601012]
—
CACNA1E
ClinEX Pro
Developmental and epileptic encephalopathy 69 [OMIM 601013]
—
CACNA1F
ClinEX Pro
Aland Island eye disease; Cone-rod dystrophy, X-linked, 3; Night blindness, congenital stationary (incomplete), 2A, X-linked [OMIM 300110]
—
CACNA1G
ClinEX Pro
Spinocerebellar ataxia 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits [OMIM 604065]
—
CACNA1H
ClinEX Pro
{Epilepsy, childhood absence, susceptibility to, 6}; {Epilepsy, idiopathic generalized, susceptibility to, 6}; Hyperaldosteronism, familial, type IV [OMIM 607904]
—
CACNA1S
ClinEX Pro
{Malignant hyperthermia susceptibility 5}; {Malignant hyperthermia, susceptibility to, 5}; {Thyrotoxic periodic paralysis, susceptibility to, 1}; Hypokalemic periodic paralysis, type 1 [OMIM 114208]
—
CACNA2D2
ClinEX Pro
Cerebellar atrophy with seizures and variable developmental delay [OMIM 607082]
—
CACNA2D4
ClinEX Pro
Retinal cone dystrophy 4 [OMIM 608171]
—
CACNB4
ClinEX Pro
{Epilepsy, idiopathic generalized, susceptibility to, 9}; {Epilepsy, juvenile myoclonic, susceptibility to, 6}; Episodic ataxia, type 5 [OMIM 601949]
—
CACNG2
ClinEX Pro
?Mental retardation, autosomal dominant 10 [OMIM 602911]
—
CAD
ClinEX Pro
Developmental and epileptic encephalopathy 50 [OMIM 114010]
—
CADM3
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2FF [OMIM 609743]
—
CALCR
ClinEX Pro
{Osteoporosis, postmenopausal, susceptibility} [OMIM 114131]
—
CALCRL
ClinEX Pro
?Lymphatic malformation 8 [OMIM 114190]
—
CAMK2A
ClinEX Pro
?Mental retardation, autosomal recessive 63; Mental retardation, autosomal dominant 53 [OMIM 114078]
—
CAMK2B
ClinEX Pro
Mental retardation, autosomal dominant 54 [OMIM 607707]
—
CAMK2G
ClinEX Pro
Mental retardation, autosomal dominant 59 [OMIM 602123]
—
CAMTA1
ClinEX Pro
Cerebellar ataxia, nonprogressive, with mental retardation [OMIM 611501]
—
CANT1
ClinEX Pro
Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 [OMIM 613165]
—
CAPN1
ClinEX Pro
Spastic paraplegia 76, autosomal recessive [OMIM 114220]
—
CAPN10
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent 1} [OMIM 605286]
—
CAPN15
ClinEX Pro
Oculogastrointestinal neurodevelopmental syndrome [OMIM 603267]
—
CAPN5
ClinEX Pro
Vitreoretinopathy, neovascular inflammatory [OMIM 602537]
—
CARD14
ClinEX Pro
Pityriasis rubra pilaris; Psoriasis 2 [OMIM 607211]
—
CARD8
ClinEX Pro
?Inflammatory bowel disease (Crohn disease) 30 [OMIM 609051]
—
CARD9
ClinEX Pro
Candidiasis, familial, 2, autosomal recessive [OMIM 607212]
—
CARMIL2
ClinEX Pro
Immunodeficiency 58 [OMIM 610859]
—
CARS1
ClinEX Pro
Microcephaly, developmental delay, and brittle hair syndrome [OMIM 123859]
—
CARS2
ClinEX Pro
Combined oxidative phosphorylation deficiency 27 [OMIM 612800]
—
CARTPT
ClinEX Pro
{?Obesity, susceptibility to} [OMIM 602606]
—
CASK
ClinEX Pro
FG syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus [OMIM 300172]
—
CASP10
ClinEX Pro
Autoimmune lymphoproliferative syndrome, type II; Gastric cancer, somatic; Lymphoma, non-Hodgkin, somatic [OMIM 601762]
—
CASP12
ClinEX Pro
{Sepsis, susceptibility to} [OMIM 608633]
—
CASP14
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 12 [OMIM 605848]
—
CASP8
ClinEX Pro
?Autoimmune lymphoproliferative syndrome, type IIB; {Breast cancer, protection against}; {Lung cancer, protection against}; Hepatocellular carcinoma, somatic [OMIM 601763]
—
CASQ1
ClinEX Pro
Myopathy, vacuolar, with CASQ1 aggregates [OMIM 114250]
—
CAST
ClinEX Pro
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [OMIM 114090]
—
CAT
ClinEX Pro
Acatalasemia [OMIM 115500]
—
CATIP ENSG0
ClinEX Pro
?Spermatogenic failure 54 [OMIM 89631898387]
—
CCDC62
ClinEX Pro
?Spermatogenic failure 67 [OMIM 613481]
—
CATSPER1
ClinEX Pro
Spermatogenic failure 7 [OMIM 606389]
—
CAV1
ClinEX Pro
?Lipodystrophy, congenital generalized, type 3; Lipodystrophy, familial partial, type 7; Pulmonary hypertension, primary, 3 [OMIM 601047]
—
CAVIN1
ClinEX Pro
Lipodystrophy, congenital generalized, type 4 [OMIM 603198]
—
CBFB
ClinEX Pro
Myeloid leukemia, acute, M4/M4Eo subtype, somatic [OMIM 121360]
—
CBX2
ClinEX Pro
?46XY sex reversal 5 [OMIM 602770]
—
CC2D1A
ClinEX Pro
Mental retardation, autosomal recessive 3 [OMIM 610055]
—
CC2D2A
ClinEX Pro
COACH syndrome 2; Joubert syndrome 9; Meckel syndrome 6 [OMIM 612013]
—
CCBE1
ClinEX Pro
Hennekam lymphangiectasia-lymphedema syndrome 1 [OMIM 612753]
—
CCDC103
ClinEX Pro
Ciliary dyskinesia, primary, 17 [OMIM 614677]
—
CCDC115
ClinEX Pro
Congenital disorder of glycosylation, type IIo [OMIM 613734]
—
CCDC174
ClinEX Pro
Hypotonia, infantile, with psychomotor retardation [OMIM 616735]
—
CCDC22
ClinEX Pro
Ritscher-Schinzel syndrome 2 [OMIM 300859]
—
CCDC28B
ClinEX Pro
{Bardet-Biedl syndrome 1, modifier of} [OMIM 610162]
—
CCDC32
ClinEX Pro
Cardiofacioneurodevelopmental syndrome [OMIM 618941]
—
CCDC39
ClinEX Pro
Ciliary dyskinesia, primary, 14 [OMIM 613798]
—
CCDC40
ClinEX Pro
Ciliary dyskinesia, primary, 15 [OMIM 613799]
—
CCDC47
ClinEX Pro
Trichohepatoneurodevelopmental syndrome [OMIM 618260]
—
CCDC50
ClinEX Pro
?Deafness, autosomal dominant 44 [OMIM 611051]
—
CCDC65
ClinEX Pro
Ciliary dyskinesia, primary, 27 [OMIM 611088]
—
CCDC78
ClinEX Pro
?Centronuclear myopathy 4 [OMIM 614666]
—
CCDC8
ClinEX Pro
3-M syndrome 3 [OMIM 614145]
—
CCDC88A
ClinEX Pro
?PEHO syndrome-like [OMIM 609736]
—
CCDC88C
ClinEX Pro
?Spinocerebellar ataxia 40; Hydrocephalus, congenital, 1 [OMIM 611204]
—
CCL11
ClinEX Pro
{Asthma, susceptibility to}; {HIV1, resistance to} [OMIM 601156]
—
CCL2
ClinEX Pro
{Coronary artery disease, modifier of}; {HIV-1, resistance to}; {Mycobacterium tuberculosis, susceptibility to}; {Spina bifida, susceptibility to} [OMIM 158105]
—
CCL3
ClinEX Pro
{HIV infection, resistance to} [OMIM 182283]
—
CCL3L1
ClinEX Pro
{HIV/AIDS, susceptibility to} [OMIM 601395]
—
CCL5
ClinEX Pro
{HIV-1 disease, delayed progression of}; {HIV-1 disease, rapid progression of} [OMIM 187011]
—
CCM2
ClinEX Pro
Cerebral cavernous malformations-2 [OMIM 607929]
—
CCN6
ClinEX Pro
Progressive pseudorheumatoid dysplasia [OMIM 603400]
—
CCNF
ClinEX Pro
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 [OMIM 600227]
—
CCNK
ClinEX Pro
?Intellectual developmental disorder with hypertelorism and distinctive facies [OMIM 603544]
—
CCNO
ClinEX Pro
Ciliary dyskinesia, primary, 29 [OMIM 607752]
—
CCNQ
ClinEX Pro
STAR syndrome [OMIM 300708]
—
CCR2
ClinEX Pro
{HIV infection, susceptibility/resistance to} [OMIM 601267]
—
CCR5
ClinEX Pro
{Diabetes mellitus, insulin-dependent, 22}; {Hepatitis C virus, resistance to}; {HIV infection, susceptibility/resistance to}; {West nile virus, susceptibility to} [OMIM 601373]
—
CCT5
ClinEX Pro
Neuropathy, hereditary sensory, with spastic paraplegia [OMIM 610150]
—
CD151
ClinEX Pro
[Blood group, Raph]; Nephropathy with pretibial epidermolysis bullosa and deafness [OMIM 602243]
—
CD164
ClinEX Pro
?Deafness, autosomal dominant 66 [OMIM 603356]
—
CD207
ClinEX Pro
[?Birbeck granule deficiency] [OMIM 604862]
—
CD209
ClinEX Pro
{Dengue fever, protection against}; {HIV type 1, susceptibility to}; {Mycobacterium tuberculosis, susceptibility to} [OMIM 604672]
—
CD244
ClinEX Pro
{Rheumatoid arthritis, susceptibility to} [OMIM 605554]
—
CD247
ClinEX Pro
?Immunodeficiency 25 [OMIM 186780]
—
CDC42BPB
ClinEX Pro
Chilton-Okur-Chung neurodevelopmental syndrome [OMIM 614062]
—
CD27
ClinEX Pro
Lymphoproliferative syndrome 2 [OMIM 186711]
—
CD2AP
ClinEX Pro
Glomerulosclerosis, focal segmental, 3 [OMIM 604241]
—
CD320
ClinEX Pro
Methylmalonic aciduria, transient, due to transcobalamin receptor defect [OMIM 606475]
—
CD36
ClinEX Pro
{Coronary heart disease, susceptibility to, 7}; {Malaria, cerebral, reduced risk of}; {Malaria, cerebral, susceptibility to}; Platelet glycoprotein IV deficiency [OMIM 173510]
—
CD3G
ClinEX Pro
Immunodeficiency 17, CD3 gamma deficient [OMIM 186740]
—
CD4
ClinEX Pro
Immunodeficiency 79; OKT4 epitope deficiency [OMIM 186940]
—
CD40
ClinEX Pro
Immunodeficiency with hyper-IgM, type 3 [OMIM 109535]
—
CD44
ClinEX Pro
[Blood group, Indian system] [OMIM 107269]
—
CD46
ClinEX Pro
{Hemolytic uremic syndrome, atypical, susceptibility to, 2} [OMIM 120920]
—
CD55
ClinEX Pro
[Blood group Cromer]; Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy [OMIM 125240]
—
CD59
ClinEX Pro
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy [OMIM 107271]
—
CD70
ClinEX Pro
Lymphoproliferative syndrome 3 [OMIM 602840]
—
CD81
ClinEX Pro
Immunodeficiency, common variable, 6 [OMIM 186845]
—
CD8A
ClinEX Pro
CD8 deficiency, familial [OMIM 186910]
—
CD96
ClinEX Pro
C syndrome [OMIM 606037]
—
CDAN1
ClinEX Pro
Dyserythropoietic anemia, congenital, type Ia [OMIM 607465]
—
CDC14A
ClinEX Pro
Deafness, autosomal recessive 32, with or without immotile sperm [OMIM 603504]
—
CDC40
ClinEX Pro
?Pontocerebellar hypoplasia, type 15 [OMIM 605585]
—
CDC42
ClinEX Pro
Takenouchi-Kosaki syndrome [OMIM 116952]
—
CDC45
ClinEX Pro
Meier-Gorlin syndrome 7 [OMIM 603465]
—
CDC6
ClinEX Pro
?Meier-Gorlin syndrome 5 [OMIM 602627]
—
CDC73
ClinEX Pro
Hyperparathyroidism-jaw tumor syndrome; Hyperparathyroidism, familial primary; Parathyroid adenoma with cystic changes; Parathyroid carcinoma [OMIM 607393]
—
CDCA7
ClinEX Pro
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 [OMIM 609937]
—
CDH15
ClinEX Pro
Mental retardation, autosomal dominant 3 [OMIM 114019]
—
CELF2
ClinEX Pro
Developmental and epileptic encephalopathy 97 [OMIM 602538]
—
CELSR1
ClinEX Pro
Lymphatic malformation 9 [OMIM 604523]
—
CDH2
ClinEX Pro
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome; Arrhythmogenic right ventricular dysplasia, familial, 14 [OMIM 114020]
—
CDH23
ClinEX Pro
{Pituitary adenoma 5, multiple types}; Deafness, autosomal recessive 12; Usher syndrome, type 1D; Usher syndrome, type 1D/F digenic [OMIM 605516]
—
CDH3
ClinEX Pro
Ectodermal dysplasia, ectrodactyly, and macular dystrophy; Hypotrichosis, congenital, with juvenile macular dystrophy [OMIM 114021]
—
CDHR1
ClinEX Pro
Cone-rod dystrophy 15; Retinitis pigmentosa 65 [OMIM 609502]
—
CDIN1
ClinEX Pro
Dyserythropoietic anemia, congenital, type Ib [OMIM 615626]
—
CDK10
ClinEX Pro
Al Kaissi syndrome [OMIM 603464]
—
CDK13
ClinEX Pro
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder [OMIM 603309]
—
CDK19
ClinEX Pro
Developmental and epileptic encephalopathy 87 [OMIM 614720]
—
CDK5
ClinEX Pro
?Lissencephaly 7 with cerebellar hypoplasia [OMIM 123831]
—
CDK5RAP2
ClinEX Pro
Microcephaly 3, primary, autosomal recessive [OMIM 608201]
—
CDK6
ClinEX Pro
?Microcephaly 12, primary, autosomal recessive [OMIM 603368]
—
CDK8
ClinEX Pro
Intellectual developmental disorder with hypotonia and behavioral abnormalities [OMIM 603184]
—
CDKL5
ClinEX Pro
Developmental and epileptic encephalopathy 2 [OMIM 300203]
—
CDKN1B
ClinEX Pro
Multiple endocrine neoplasia, type IV [OMIM 600778]
—
CDON
ClinEX Pro
Holoprosencephaly 11 [OMIM 608707]
—
CDSN
ClinEX Pro
Hypotrichosis 2; Peeling skin syndrome 1 [OMIM 602593]
—
CDT1
ClinEX Pro
Meier-Gorlin syndrome 4 [OMIM 605525]
—
CEACAM16
ClinEX Pro
Deafness, autosomal dominant 4B; Deafness, autosomal recessive 113 [OMIM 614591]
—
CEBPE
ClinEX Pro
Specific granule deficiency [OMIM 600749]
—
CEL
ClinEX Pro
Maturity-onset diabetes of the young, type VIII [OMIM 114840]
—
CELA2A
ClinEX Pro
Abdominal obesity-metabolic syndrome 4 [OMIM 609443]
—
CENPE
ClinEX Pro
?Microcephaly 13, primary, autosomal recessive [OMIM 117143]
—
CENPF
ClinEX Pro
Stromme syndrome [OMIM 600236]
—
CENPJ
ClinEX Pro
?Seckel syndrome 4; Microcephaly 6, primary, autosomal recessive [OMIM 609279]
—
CENPT
ClinEX Pro
?Short stature and microcephaly with genital anomalies [OMIM 611510]
—
CFAP418
ClinEX Pro
Bardet-Biedl syndrome 21
—
CEP104
ClinEX Pro
Joubert syndrome 25 [OMIM 616690]
—
CEP112
ClinEX Pro
Spermatogenic failure 44 [OMIM 618980]
—
CEP120
ClinEX Pro
Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly [OMIM 613446]
—
CEP135
ClinEX Pro
Microcephaly 8, primary, autosomal recessive [OMIM 611423]
—
CEP152
ClinEX Pro
Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 [OMIM 613529]
—
CEP164
ClinEX Pro
Nephronophthisis 15 [OMIM 614848]
—
CEP19
ClinEX Pro
Morbid obesity and spermatogenic failure [OMIM 615586]
—
CEP250
ClinEX Pro
Cone-rod dystrophy and hearing loss 2 [OMIM 609689]
—
CEP290
ClinEX Pro
?Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Senior-Loken syndrome 6 [OMIM 610142]
—
CEP41
ClinEX Pro
Joubert syndrome 15 [OMIM 610523]
—
CEP43
ClinEX Pro
Myeloproliferative disorder [OMIM 605392]
—
CEP55
ClinEX Pro
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly [OMIM 610000]
—
CEP57
ClinEX Pro
Mosaic variegated aneuploidy syndrome 2 [OMIM 607951]
—
CEP63
ClinEX Pro
?Seckel syndrome 6 [OMIM 614724]
—
CEP78
ClinEX Pro
Cone-rod dystrophy and hearing loss [OMIM 617110]
—
CEP83
ClinEX Pro
Nephronophthisis 18 [OMIM 615847]
—
CEP85L
ClinEX Pro
Lissencephaly 10 [OMIM 618865]
—
CERKL
ClinEX Pro
Retinitis pigmentosa 26 [OMIM 608381]
—
CERS1
ClinEX Pro
?Epilepsy, progressive myoclonic, 8 [OMIM 606919]
—
CERS3
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 9 [OMIM 615276]
—
CERT1
ClinEX Pro
Mental retardation, autosomal dominant 34 [OMIM 604677]
—
CES1
ClinEX Pro
Drug metabolism, altered, CES1-related [OMIM 114835]
—
CFAP251
ClinEX Pro
Spermatogenic failure 33 [OMIM 618146]
—
CFAP298
ClinEX Pro
Ciliary dyskinesia, primary, 26 [OMIM 615494]
—
CFAP300
ClinEX Pro
Ciliary dyskinesia, primary, 38 [OMIM 618058]
—
CFAP410
ClinEX Pro
Retinal dystrophy with macular staphyloma; Spondylometaphyseal dysplasia, axial [OMIM 603191]
—
CFAP43
ClinEX Pro
Hydrocephalus, normal pressure, 1; Spermatogenic failure 19 [OMIM 617558]
—
CFAP44
ClinEX Pro
?Spermatogenic failure 20 [OMIM 617559]
—
CFAP45
ClinEX Pro
Heterotaxy, visceral, 11, autosomal, with male infertility [OMIM 605152]
—
CFAP47
ClinEX Pro
Spermatogenic failure, X-linked, 3 [OMIM 301057]
—
CFAP52
ClinEX Pro
Heterotaxy, visceral, 10, autosomal, with male infertility [OMIM 609804]
—
CFAP53
ClinEX Pro
Heterotaxy, visceral, 6, autosomal recessive [OMIM 614759]
—
CFAP58
ClinEX Pro
Spermatogenic failure 49 [OMIM 619129]
—
CFAP65
ClinEX Pro
Spermatogenic failure 40 [OMIM 614270]
—
CFAP69
ClinEX Pro
Spermatogenic failure 24 [OMIM 617949]
—
CFAP70
ClinEX Pro
?Spermatogenic failure 41 [OMIM 618661]
—
CFAP91
ClinEX Pro
Spermatogenic failure 51 [OMIM 609910]
—
CFC1
ClinEX Pro
Heterotaxy, visceral, 2, autosomal [OMIM 605194]
—
CFH
ClinEX Pro
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}; {Macular degeneration, age-related, 4}; Basal laminar drusen; Complement factor H deficiency [OMIM 134370]
—
CFHR1
ClinEX Pro
{Hemolytic uremic syndrome, atypical, susceptibility to}; {Macular degeneration, age-related, reduced risk of} [OMIM 134371]
—
CFHR3
ClinEX Pro
{Hemolytic uremic syndrome, atypical, susceptibility to}; {Macular degeneration, age-related, reduced risk of} [OMIM 605336]
—
CFHR5
ClinEX Pro
Nephropathy due to CFHR5 deficiency [OMIM 608593]
—
CFI
ClinEX Pro
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}; {Macular degeneration, age-related, 13, susceptibility to}; Complement factor I deficiency [OMIM 217030]
—
CFL2
ClinEX Pro
Nemaline myopathy 7, autosomal recessive [OMIM 601443]
—
CHAMP1
ClinEX Pro
Mental retardation, autosomal dominant 40 [OMIM 616327]
—
CHCHD10
ClinEX Pro
?Myopathy, isolated mitochondrial, autosomal dominant; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Spinal muscular atrophy, Jokela type [OMIM 615903]
—
CHCHD2
ClinEX Pro
Parkinson disease 22, autosomal dominant [OMIM 616244]
—
CHD1
ClinEX Pro
Pilarowski-Bjornsson syndrome [OMIM 602118]
—
CHD3
ClinEX Pro
Snijders Blok-Campeau syndrome [OMIM 602120]
—
CHD4
ClinEX Pro
Sifrim-Hitz-Weiss syndrome [OMIM 603277]
—
CHD5
ClinEX Pro
Parenti-Mignot neurodevelopmental syndrome [OMIM 610771]
—
CHD7
ClinEX Pro
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia [OMIM 608892]
—
CHD8
ClinEX Pro
{Autism, susceptibility to, 18} [OMIM 610528]
—
CHI3L1
ClinEX Pro
{Asthma-related traits, susceptibility to, 7}; {Schizophrenia, susceptibility to} [OMIM 601525]
—
CHIC2
ClinEX Pro
{Leukemia, acute myeloid} [OMIM 604332]
—
CHIT1
ClinEX Pro
[Chitotriosidase deficiency] [OMIM 600031]
—
CHKB
ClinEX Pro
Muscular dystrophy, congenital, megaconial type [OMIM 612395]
—
CHMP1A
ClinEX Pro
Pontocerebellar hypoplasia, type 8 [OMIM 164010]
—
CHMP2B
ClinEX Pro
Frontotemporal dementia and/or amytrophic lateral sclerosis 7 [OMIM 609512]
—
CHMP4B
ClinEX Pro
Cataract 31, multiple types [OMIM 610897]
—
CHN1
ClinEX Pro
Duane retraction syndrome 2 [OMIM 118423]
—
CHP1
ClinEX Pro
?Spastic ataxia 9, autosomal recessive [OMIM 606988]
—
CHRDL1
ClinEX Pro
Megalocornea 1, X-linked [OMIM 300350]
—
CHRM3
ClinEX Pro
Prune belly syndrome [OMIM 118494]
—
CHRNA2
ClinEX Pro
Epilepsy, nocturnal frontal lobe, type 4 [OMIM 118502]
—
CHRNA3
ClinEX Pro
{Lung cancer susceptibility 2}; Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT [OMIM 118503]
—
CHRNA4
ClinEX Pro
{Nicotine addiction, susceptibility to}; Epilepsy, nocturnal frontal lobe, 1 [OMIM 118504]
—
CHRNA5
ClinEX Pro
{Lung cancer susceptibility 2}; {Nicotine dependence, susceptibility to} [OMIM 118505]
—
CHRNB2
ClinEX Pro
Epilepsy, nocturnal frontal lobe, 3 [OMIM 118507]
—
CHRNG
ClinEX Pro
Escobar syndrome; Multiple pterygium syndrome, lethal type [OMIM 100730]
—
CHST11
ClinEX Pro
?Osteochondrodysplasia, brachydactyly, and overlapping malformed digits [OMIM 610128]
—
CHST14
ClinEX Pro
Ehlers-Danlos syndrome, musculocontractural type 1 [OMIM 608429]
—
CLDN11
ClinEX Pro
Leukodystrophy, hypomyelinating, 22 [OMIM 601326]
—
CHST3
ClinEX Pro
Spondyloepiphyseal dysplasia with congenital joint dislocations [OMIM 603799]
—
CHST6
ClinEX Pro
Macular corneal dystrophy [OMIM 605294]
—
CHST8
ClinEX Pro
?Peeling skin syndrome 3 [OMIM 610190]
—
CHSY1
ClinEX Pro
Temtamy preaxial brachydactyly syndrome [OMIM 608183]
—
CHUK
ClinEX Pro
Cocoon syndrome [OMIM 600664]
—
CIB1
ClinEX Pro
Epidermodysplasia verruciformis 3 [OMIM 602293]
—
CIB2
ClinEX Pro
Deafness, autosomal recessive 48; Usher syndrome, type IJ [OMIM 605564]
—
CIBAR1
ClinEX Pro
?Polydactyly, postaxial, type A9 [OMIM 617273]
—
CIDEC
ClinEX Pro
?Lipodystrophy, familial partial, type 5 [OMIM 612120]
—
CILK1
ClinEX Pro
{Epilepsy, juvenile myoclonic, susceptibility to, 10}; Endocrine- cerebroosteodysplasia [OMIM 612325]
—
CILP
ClinEX Pro
{Lumbar disc disease, susceptibility to} [OMIM 603489]
—
CIROP ENSG0
ClinEX Pro
Heterotaxy, visceral, 12, autosomal [OMIM 37621198703]
—
CISD2
ClinEX Pro
Wolfram syndrome 2 [OMIM 611507]
—
CISH
ClinEX Pro
{Bacteremia, susceptibility to}; {Malaria, susceptibility to}; {Tuberculosis, susceptibility to} [OMIM 602441]
—
CIT
ClinEX Pro
Microcephaly 17, primary, autosomal recessive [OMIM 605629]
—
CITED2
ClinEX Pro
Atrial septal defect 8; Ventricular septal defect 2 [OMIM 602937]
—
CKAP2L
ClinEX Pro
Filippi syndrome [OMIM 616174]
—
CLCC1
ClinEX Pro
Retinitis pigmentosa 32 [OMIM 617539]
—
CLCF1
ClinEX Pro
Cold-induced sweating syndrome 2 [OMIM 607672]
—
CLCN1
ClinEX Pro
Myotonia congenita, dominant; Myotonia congenita, recessive; Myotonia levior, recessive [OMIM 118425]
—
CLCN2
ClinEX Pro
{Epilepsy, idiopathic generalized, susceptibility to, 11}; {Epilepsy, juvenile absence, susceptibility to, 2}; {Epilepsy, juvenile myoclonic, susceptibility to, 8}; Hyperaldosteronism, familial, type II; Leukoencephalopathy with ataxia [OMIM 600570]
—
CLCN3
ClinEX Pro
Neurodevelopmental disorder with hypotonia and brain abnormalities [OMIM 600580]
—
CLCN4
ClinEX Pro
Raynaud-Claes syndrome [OMIM 302910]
—
CLCN5
ClinEX Pro
Dent disease; Hypophosphatemic rickets; Nephrolithiasis, type I; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis [OMIM 300008]
—
CLCN6
ClinEX Pro
Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities [OMIM 602726]
—
CLCNKA
ClinEX Pro
Bartter syndrome, type 4b, digenic [OMIM 602024]
—
CLDN1
ClinEX Pro
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis [OMIM 603718]
—
CLDN10
ClinEX Pro
HELIX syndrome [OMIM 617579]
—
CLDN14
ClinEX Pro
Deafness, autosomal recessive 29 [OMIM 605608]
—
CLDN16
ClinEX Pro
Hypomagnesemia 3, renal [OMIM 603959]
—
CLDN19
ClinEX Pro
Hypomagnesemia 5, renal, with ocular involvement [OMIM 610036]
—
CLDN2
ClinEX Pro
?Azoospermia, obstructive, with nephrolithiasis [OMIM 300520]
—
CLDN9
ClinEX Pro
?Deafness, autosomal recessive 116 [OMIM 615799]
—
CLEC1A
ClinEX Pro
{Aspergillosis, susceptibility to} [OMIM 606782]
—
CLEC7A
ClinEX Pro
{Aspergillosis, susceptibility to}; Candidiasis, familial, 4, autosomal recessive [OMIM 606264]
—
CLIC2
ClinEX Pro
?Mental retardation, X-linked, syndromic 32 [OMIM 300138]
—
CLIC5
ClinEX Pro
?Deafness, autosomal recessive 103 [OMIM 607293]
—
CLMP
ClinEX Pro
Congenital short bowel syndrome [OMIM 611693]
—
CLN3
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 3 [OMIM 607042]
—
CLN5
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 5 [OMIM 608102]
—
CLN6
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 6; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset [OMIM 606725]
—
CLN8
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 8; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant [OMIM 607837]
—
CLP1
ClinEX Pro
Pontocerebellar hypoplasia, type 10 [OMIM 608757]
—
CLPB
ClinEX Pro
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia [OMIM 616254]
—
CLPP
ClinEX Pro
Perrault syndrome 3 [OMIM 601119]
—
CLPX
ClinEX Pro
?Protoporphyria, erythropoietic, 2 [OMIM 615611]
—
CLRN2
ClinEX Pro
?Deafness, autosomal recessive 117 [OMIM 618988]
—
CNBP
ClinEX Pro
Myotonic dystrophy 2 [OMIM 116955]
—
CNGA1
ClinEX Pro
Retinitis pigmentosa 49 [OMIM 123825]
—
CNGA3
ClinEX Pro
Achromatopsia 2 [OMIM 600053]
—
CNGB1
ClinEX Pro
Retinitis pigmentosa 45 [OMIM 600724]
—
CNGB3
ClinEX Pro
Achromatopsia 3 [OMIM 605080]
—
CNKSR2
ClinEX Pro
Mental retardation, X-linked, syndromic, Houge type [OMIM 300724]
—
CNNM2
ClinEX Pro
Hypomagnesemia 6, renal; Hypomagnesemia, seizures, and mental retardation [OMIM 607803]
—
CNNM4
ClinEX Pro
Jalili syndrome [OMIM 607805]
—
CNOT1
ClinEX Pro
Holoprosencephaly 12, with or without pancreatic agenesis; Vissers- Bodmer syndrome [OMIM 604917]
—
CNOT2
ClinEX Pro
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [OMIM 604909]
—
CNOT3
ClinEX Pro
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [OMIM 604910]
—
CNP
ClinEX Pro
?Leukodystrophy, hypomyelinating, 20 [OMIM 123830]
—
CNPY3
ClinEX Pro
Developmental and epileptic encephalopathy 60 [OMIM 610774]
—
CNTN1
ClinEX Pro
?Myopathy, congenital, Compton-North [OMIM 600016]
—
CNTN2
ClinEX Pro
?Epilepsy, myoclonic, familial adult, 5 [OMIM 190197]
—
CNTNAP1
ClinEX Pro
Hypomyelinating neuropathy, congenital, 3; Lethal congenital contracture syndrome 7 [OMIM 602346]
—
CNTNAP2
ClinEX Pro
{Autism susceptibility 15}; Cortical dysplasia-focal epilepsy syndrome; Pitt- Hopkins like syndrome 1 [OMIM 604569]
—
COA3
ClinEX Pro
?Mitochondrial complex IV deficiency, nuclear type 14 [OMIM 614775]
—
COA5
ClinEX Pro
?Mitochondrial complex IV, deficiency, nuclear type 9 [OMIM 613920]
—
COA6
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 13 [OMIM 614772]
—
COA7
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 [OMIM 615623]
—
COA8
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 17 [OMIM 616003]
—
COASY
ClinEX Pro
Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia, type 12 [OMIM 609855]
—
COCH
ClinEX Pro
?Deafness, autosomal recessive 110; Deafness, autosomal dominant 9 [OMIM 603196]
—
COG1
ClinEX Pro
Congenital disorder of glycosylation, type IIg [OMIM 606973]
—
COG2
ClinEX Pro
?Congenital disorder of glycosylation, type IIq [OMIM 606974]
—
COG4
ClinEX Pro
Congenital disorder of glycosylation, type IIj; Saul-Wilson syndrome [OMIM 606976]
—
COG5
ClinEX Pro
Congenital disorder of glycosylation, type IIi [OMIM 606821]
—
COG6
ClinEX Pro
Congenital disorder of glycosylation, type IIl; Shaheen syndrome [OMIM 606977]
—
COG7
ClinEX Pro
Congenital disorder of glycosylation, type IIe [OMIM 606978]
—
COG8
ClinEX Pro
Congenital disorder of glycosylation, type IIh [OMIM 606979]
—
COL10A1
ClinEX Pro
Metaphyseal chondrodysplasia, Schmid type [OMIM 120110]
—
COL11A1
ClinEX Pro
?Deafness, autosomal dominant 37; {Lumbar disc herniation, susceptibility to}; Fibrochondrogenesis 1; Marshall syndrome; Stickler syndrome, type II [OMIM 120280]
—
COL11A2
ClinEX Pro
Deafness, autosomal dominant 13; Deafness, autosomal recessive 53; Fibrochondrogenesis 2; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive [OMIM 120290]
—
COL12A1
ClinEX Pro
?Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 [OMIM 120320]
—
COL17A1
ClinEX Pro
Epidermolysis bullosa, junctional, localisata variant; Epidermolysis bullosa, junctional, non-Herlitz type; Epithelial recurrent erosion dystrophy [OMIM 113811]
—
COL18A1
ClinEX Pro
Glaucoma, primary closed-angle; Knobloch syndrome, type 1 [OMIM 120328]
—
COL1A2
ClinEX Pro
{Osteoporosis, postmenopausal}; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2; Ehlers-Danlos syndrome, arthrochalasia type, 2; Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta, type II; Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV [OMIM 120160]
—
COL25A1
ClinEX Pro
Fibrosis of extraocular muscles, congenital, 5 [OMIM 610004]
—
COL27A1
ClinEX Pro
Steel syndrome [OMIM 608461]
—
COL2A1
ClinEX Pro
?Epiphyseal dysplasia, multiple, with myopia and deafness; ?Vitreoretinopathy with phalangeal epiphyseal dysplasia; Achondrogenesis, type II or hypochondrogenesis; Avascular necrosis of the femoral head; Czech dysplasia; Kniest dysplasia; Legg-Calve- Perthes disease; Osteoarthritis with mild chondrodysplasia; Platyspondylic skeletal dysplasia, Torrance type; SED congenita; SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloperipheral dysplasia; Stickler sydrome, type I, nonsyndromic ocular; Stickler syndrome, type I; Vitreoretinopathy with phalangeal epiphyseal dysplasia [OMIM 120140]
—
COL4A1
ClinEX Pro
?Retinal arteries, tortuosity of; {Hemorrhage, intracerebral, susceptibility to}; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with or without ocular anomalies; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant [OMIM 120130]
—
COL4A2
ClinEX Pro
{Hemorrhage, intracerebral, susceptibility to}; Brain small vessel disease 2 [OMIM 120090]
—
COL4A3
ClinEX Pro
Alport syndrome 2, autosomal recessive; Alport syndrome 3, autosomal dominant; Hematuria, benign familial [OMIM 120070]
—
COL4A4
ClinEX Pro
Alport syndrome 2, autosomal recessive; Hematuria, familial benign [OMIM 120131]
—
COL4A6
ClinEX Pro
?Deafness, X-linked 6 [OMIM 303631]
—
COL6A1
ClinEX Pro
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 [OMIM 120220]
—
COL6A2
ClinEX Pro
?Myosclerosis, congenital; Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 [OMIM 120240]
—
COL6A3
ClinEX Pro
Bethlem myopathy 1; Dystonia 27; Ullrich congenital muscular dystrophy 1 [OMIM 120250]
—
COL7A1
ClinEX Pro
EBD inversa; EBD, Bart type; EBD, localisata variant; Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa, pretibial; Toenail dystrophy, isolated; Transient bullous of the newborn [OMIM 120120]
—
COL8A2
ClinEX Pro
Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, posterior polymorphous 2 [OMIM 120252]
—
COL9A2
ClinEX Pro
?Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2 [OMIM 120260]
—
COL9A3
ClinEX Pro
{Intervertebral disc disease, susceptibility to}; Epiphyseal dysplasia, multiple, 3, with or without myopathy [OMIM 120270]
—
COLEC10
ClinEX Pro
3MC syndrome 3 [OMIM 607620]
—
CPE
ClinEX Pro
BDV syndrome [OMIM 114855]
—
COLEC11
ClinEX Pro
3MC syndrome 2 [OMIM 612502]
—
COLGALT1
ClinEX Pro
Brain small vessel disease 3 [OMIM 617531]
—
COMP
ClinEX Pro
Carpal tunnel syndrome 2; Epiphyseal dysplasia, multiple, 1; Pseudoachondroplasia [OMIM 600310]
—
COMT
ClinEX Pro
{Panic disorder, susceptibility to}; {Schizophrenia, susceptibility to} [OMIM 116790]
—
COPA
ClinEX Pro
{Autoimmune interstitial lung, joint, and kidney disease} [OMIM 601924]
—
CPSF3
ClinEX Pro
odevelopmental disorder with microcephaly, hypotonia, nystagmus, and sei [OMIM 6060N2e9ur]
—
COPB1
ClinEX Pro
Baralle-Macken syndrome [OMIM 600959]
—
COPB2
ClinEX Pro
?Microcephaly 19, primary, autosomal recessive [OMIM 606990]
—
COQ5
ClinEX Pro
?Coenzyme Q10 deficiency, primary, 9 [OMIM 616359]
—
CORIN
ClinEX Pro
Preeclampsia/eclampsia 5 [OMIM 605236]
—
CORO1A
ClinEX Pro
Immunodeficiency 8 [OMIM 605000]
—
COX10
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 3 [OMIM 602125]
—
COX14
ClinEX Pro
?Mitochondrial complex IV deficiency, nuclear type 10 [OMIM 614478]
—
COX16
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 22 [OMIM 618064]
—
COX20
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 11 [OMIM 614698]
—
COX4I1
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 16 [OMIM 123864]
—
COX4I2
ClinEX Pro
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [OMIM 607976]
—
COX5A
ClinEX Pro
?Mitochondrial complex IV deficiency, nuclear type 20 [OMIM 603773]
—
COX6A1
ClinEX Pro
Charcot-Marie-Tooth disease, recessive intermediate D [OMIM 602072]
—
COX6A2
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 18 [OMIM 602009]
—
COX6B1
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 7 [OMIM 124089]
—
COX7B
ClinEX Pro
Linear skin defects with multiple congenital anomalies 2 [OMIM 300885]
—
COX8A
ClinEX Pro
?Mitochondrial complex IV deficiency, nuclear type 15 [OMIM 123870]
—
CP
ClinEX Pro
[Hypoceruloplasminemia, hereditary]; Cerebellar ataxia; Hemosiderosis, systemic, due to aceruloplasminemia [OMIM 117700]
—
CPA6
ClinEX Pro
Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 [OMIM 609562]
—
CPAMD8
ClinEX Pro
Anterior segment dysgenesis 8 [OMIM 608841]
—
CPLANE1
ClinEX Pro
Joubert syndrome 17; Orofaciodigital syndrome VI [OMIM 614571]
—
CPLX1
ClinEX Pro
Developmental and epileptic encephalopathy 63 [OMIM 605032]
—
CPN1
ClinEX Pro
Carboxypeptidase N deficiency [OMIM 603103]
—
CPSF1
ClinEX Pro
Myopia 27 [OMIM 606027]
—
CPT1C
ClinEX Pro
?Spastic paraplegia 73, autosomal dominant [OMIM 608846]
—
CR1
ClinEX Pro
[Blood group, Knops system]; {Malaria, severe, resistance to} [OMIM 120620]
—
CR2
ClinEX Pro
{Systemic lupus erythematosus, susceptibility to, 9}; Immunodeficiency, common variable, 7 [OMIM 120650]
—
CRADD
ClinEX Pro
Mental retardation, autosomal recessive 34, with variant lissencephaly [OMIM 603454]
—
CRAT
ClinEX Pro
?Neurodegeneration with brain iron accumulation 8 [OMIM 600184]
—
CRB1
ClinEX Pro
Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa-12 [OMIM 604210]
—
CRB2
ClinEX Pro
Focal segmental glomerulosclerosis 9; Ventriculomegaly with cystic kidney disease [OMIM 609720]
—
CRBN
ClinEX Pro
Mental retardation, autosomal recessive 2 [OMIM 609262]
—
CRIPT
ClinEX Pro
Short stature with microcephaly and distinctive facies [OMIM 604594]
—
CRLF1
ClinEX Pro
Cold-induced sweating syndrome 1 [OMIM 604237]
—
CRPPA
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Muscular dystrophy-dystroglycanopathy (limb- girdle), type C, 7 [OMIM 614631]
—
CRTAP
ClinEX Pro
Osteogenesis imperfecta, type VII [OMIM 605497]
—
CRX
ClinEX Pro
Cone-rod retinal dystrophy-2; Leber congenital amaurosis 7 [OMIM 602225]
—
CRY1
ClinEX Pro
{Delayed sleep phase disorder, susceptibility to} [OMIM 601933]
—
CRYAA
ClinEX Pro
Cataract 9, multiple types [OMIM 123580]
—
CRYBA1
ClinEX Pro
Cataract 10, multiple types [OMIM 123610]
—
CRYBA2
ClinEX Pro
?Cataract 42 [OMIM 600836]
—
CRYBA4
ClinEX Pro
Cataract 23 [OMIM 123631]
—
CRYBB1
ClinEX Pro
Cataract 17, multiple types [OMIM 600929]
—
CRYBB2
ClinEX Pro
Cataract 3, multiple types [OMIM 123620]
—
CRYBB3
ClinEX Pro
Cataract 22 [OMIM 123630]
—
CRYGB
ClinEX Pro
Cataract 39, multiple types, autosomal dominant [OMIM 123670]
—
CRYGC
ClinEX Pro
Cataract 2, multiple types [OMIM 123680]
—
CRYGD
ClinEX Pro
Cataract 4, multiple types [OMIM 123690]
—
CRYGS
ClinEX Pro
Cataract 20, multiple types [OMIM 123730]
—
CRYM
ClinEX Pro
Deafness, autosomal dominant 40 [OMIM 123740]
—
CSF2RA
ClinEX Pro
Surfactant metabolism dysfunction, pulmonary, 4 [OMIM 306250]
—
CSF2RB
ClinEX Pro
Surfactant metabolism dysfunction, pulmonary, 5 [OMIM 138981]
—
CSGALNACT1
ClinEX Pro
Skeletal dysplasia, mild, with joint laxity and advanced bone age [OMIM 616615]
—
CSH1
ClinEX Pro
[Placental lactogen deficiency] [OMIM 150200]
—
CSNK1D
ClinEX Pro
Advanced sleep-phase syndrome, familial, 2 [OMIM 600864]
—
CSNK2A1
ClinEX Pro
Okur-Chung neurodevelopmental syndrome [OMIM 115440]
—
CSNK2B
ClinEX Pro
Poirier-Bienvenu neurodevelopmental syndrome [OMIM 115441]
—
CSPP1
ClinEX Pro
Joubert syndrome 21 [OMIM 611654]
—
CXCR2
ClinEX Pro
?WHIM syndrome 2 [OMIM 146928]
—
CST3
ClinEX Pro
{Macular degeneration, age-related, 11}; Cerebral amyloid angiopathy [OMIM 604312]
—
CST6
ClinEX Pro
?Ectodermal dysplasia 15, hypohidrotic/hair type [OMIM 601891]
—
CSTA
ClinEX Pro
Peeling skin syndrome 4 [OMIM 184600]
—
CSTB
ClinEX Pro
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) [OMIM 601145]
—
CTBP1
ClinEX Pro
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [OMIM 602618]
—
CTC1
ClinEX Pro
Cerebroretinal microangiopathy with calcifications and cysts [OMIM 613129]
—
CTDP1
ClinEX Pro
Congenital cataracts, facial dysmorphism, and neuropathy [OMIM 604927]
—
CTH
ClinEX Pro
Cystathioninuria [OMIM 607657]
—
CTHRC1
ClinEX Pro
Barrett esophagus/esophageal adenocarcinoma [OMIM 610635]
—
CTLA4
ClinEX Pro
{Celiac disease, susceptibility to, 3}; {Diabetes mellitus, insulin-dependent, 12}; {Hashimoto thyroiditis}; {Systemic lupus erythematosus, susceptibility to}; Autoimmune lymphoproliferative syndrome, type V [OMIM 123890]
—
CTNNA1
ClinEX Pro
Macular dystrophy, patterned, 2 [OMIM 116805]
—
CTNNA2
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 9 [OMIM 114025]
—
CTNNBL1
ClinEX Pro
munodeficiency 99 with hypogammaglobulinemia and autoimmune cytope [OMIM 61153?7Im]
—
CTNND1
ClinEX Pro
Blepharocheilodontic syndrome 2 [OMIM 601045]
—
CTRC
ClinEX Pro
{Pancreatitis, chronic, susceptibility to} [OMIM 601405]
—
CTSA
ClinEX Pro
Galactosialidosis [OMIM 613111]
—
CTSB
ClinEX Pro
Keratolytic winter erythema [OMIM 116810]
—
CTSC
ClinEX Pro
Haim-Munk syndrome; Papillon-Lefevre syndrome; Periodontitis 1, juvenile [OMIM 602365]
—
CTSD
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 10 [OMIM 116840]
—
CTSF
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 13, Kufs type [OMIM 603539]
—
CTSK
ClinEX Pro
Pycnodysostosis [OMIM 601105]
—
CTU2
ClinEX Pro
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome [OMIM 617057]
—
CUL3
ClinEX Pro
Neurodevelopmental disorder with or without autism or seizures; Pseudohypoaldosteronism, type IIE [OMIM 603136]
—
CUL4B
ClinEX Pro
Mental retardation, X-linked, syndromic 15 (Cabezas type) [OMIM 300304]
—
CUL7
ClinEX Pro
3-M syndrome 1 [OMIM 609577]
—
CUX2
ClinEX Pro
Developmental and epileptic encephalopathy 67 [OMIM 610648]
—
CWC27
ClinEX Pro
Retinitis pigmentosa with or without skeletal anomalies [OMIM 617170]
—
CWF19L1
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 17 [OMIM 616120]
—
CX3CR1
ClinEX Pro
{Coronary artery disease, resistance to}; {Macular degeneration, age- related, 12}; {Rapid progression to AIDS from HIV1 infection} [OMIM 601470]
—
CXCL12
ClinEX Pro
{AIDS, resistance to} [OMIM 600835]
—
CXCR1
ClinEX Pro
{AIDS, slow progression to} [OMIM 146929]
—
CYB561
ClinEX Pro
Orthostatic hypotension 2 [OMIM 600019]
—
CYB5A
ClinEX Pro
Methemoglobinemia and ambiguous genitalia [OMIM 613218]
—
CYB5R3
ClinEX Pro
Methemoglobinemia, type I; Methemoglobinemia, type II [OMIM 613213]
—
CYC1
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 6 [OMIM 123980]
—
DBR1
ClinEX Pro
{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11} [OMIM 607024]
—
CYCS
ClinEX Pro
Thrombocytopenia 4 [OMIM 123970]
—
CYFIP2
ClinEX Pro
Developmental and epileptic encephalopathy 65 [OMIM 606323]
—
CYLD
ClinEX Pro
?Frontotemporal dementia and/or amytrophic lateral sclerosis 8; Brooke- Spiegler syndrome; Cylindromatosis, familial; Trichoepithelioma, multiple familial, 1 [OMIM 605018]
—
CYP19A1
ClinEX Pro
Aromatase deficiency; Aromatase excess syndrome [OMIM 107910]
—
CYP1B1
ClinEX Pro
Anterior segment dysgenesis 6, multiple subtypes; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset [OMIM 601771]
—
CYP24A1
ClinEX Pro
Hypercalcemia, infantile, 1 [OMIM 126065]
—
CYP26B1
ClinEX Pro
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies [OMIM 605207]
—
CYP26C1
ClinEX Pro
Focal facial dermal dysplasia 4 [OMIM 608428]
—
DDB1
ClinEX Pro
White-Kernohan syndrome [OMIM 600045]
—
CYP27A1
ClinEX Pro
Cerebrotendinous xanthomatosis [OMIM 606530]
—
CYP2A6
ClinEX Pro
{Lung cancer, resistance to}; {Nicotine addiction, protection from}; Coumarin resistance [OMIM 122720]
—
CYP2B6
ClinEX Pro
{Efavirenz central nervous system toxicity, susceptibility to}; Efavirenz, poor metabolism of [OMIM 123930]
—
CYP2C19
ClinEX Pro
Clopidogrel, impaired responsiveness to; Mephenytoin poor metabolizer; Omeprazole poor metabolizer; Proguanil poor metabolizer [OMIM 124020]
—
CYP2C8
ClinEX Pro
{Drug metabolism, altered, CYP2C8-related} [OMIM 601129]
—
CYP2C9
ClinEX Pro
Tolbutamide poor metabolizer; Warfarin sensitivity [OMIM 601130]
—
CYP2D6
ClinEX Pro
{Codeine sensitivity}; {Debrisoquine sensitivity} [OMIM 124030]
—
CYP2U1
ClinEX Pro
Spastic paraplegia 56, autosomal recessive [OMIM 610670]
—
CYP3A4
ClinEX Pro
Vitamin D-dependent rickets, type 3 [OMIM 124010]
—
CYP3A5
ClinEX Pro
{Hypertension, salt-sensitive essential, susceptibility to} [OMIM 605325]
—
CYP4F22
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 5 [OMIM 611495]
—
CYP4V2
ClinEX Pro
Bietti crystalline corneoretinal dystrophy [OMIM 608614]
—
DEF6
ClinEX Pro
Immunodeficiency 87 and autoimmunity [OMIM 610094]
—
CYP7B1
ClinEX Pro
Bile acid synthesis defect, congenital, 3; Spastic paraplegia 5A, autosomal recessive [OMIM 603711]
—
D2HGDH
ClinEX Pro
D-2-hydroxyglutaric aciduria [OMIM 609186]
—
DAAM2
ClinEX Pro
Nephrotic syndrome, type 24 [OMIM 606627]
—
DAB1
ClinEX Pro
Spinocerebellar ataxia 37 [OMIM 603448]
—
DACT1
ClinEX Pro
?Townes-Brocks syndrome 2 [OMIM 607861]
—
DAG1
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb- girdle), type C, 9 [OMIM 128239]
—
DALRD3
ClinEX Pro
?Developmental and epileptic encephalopathy 86 [OMIM 618904]
—
DAOA
ClinEX Pro
{Schizophrenia} [OMIM 607408]
—
DARS1
ClinEX Pro
Hypomyelination with brainstem and spinal cord involvement and leg spasticity [OMIM 603084]
—
DARS2
ClinEX Pro
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [OMIM 610956]
—
DBH
ClinEX Pro
Orthostatic hypotension 1, due to DBH deficiency [OMIM 609312]
—
DCAF17
ClinEX Pro
Woodhouse-Sakati syndrome [OMIM 612515]
—
DCAF8
ClinEX Pro
?Giant axonal neuropathy 2, autosomal dominant [OMIM 615820]
—
DCC
ClinEX Pro
Colorectal cancer, somatic; Esophageal carcinoma, somatic; Gaze palsy, familial horizontal, with progressive scoliosis, 2; Mirror movements 1 and/or agenesis of the corpus callosum [OMIM 120470]
—
DCDC2
ClinEX Pro
?Deafness, autosomal recessive 66; Nephronophthisis 19; Sclerosing cholangitis, neonatal [OMIM 605755]
—
DCHS1
ClinEX Pro
Mitral valve prolapse 2; Van Maldergem syndrome 1 [OMIM 603057]
—
DCN
ClinEX Pro
Corneal dystrophy, congenital stromal [OMIM 125255]
—
DCPS
ClinEX Pro
Al-Raqad syndrome [OMIM 610534]
—
DCT
ClinEX Pro
Oculocutaneous albinism, type VIII [OMIM 191275]
—
DCX
ClinEX Pro
Lissencephaly, X-linked; Subcortical laminal heterotopia, X-linked [OMIM 300121]
—
DIO1
ClinEX Pro
Thyroid hormone metabolism, abnormal, 2 [OMIM 147892]
—
DCXR
ClinEX Pro
[Pentosuria] [OMIM 608347]
—
DDB2
ClinEX Pro
Xeroderma pigmentosum, group E, DDB-negative subtype [OMIM 600811]
—
DDHD1
ClinEX Pro
Spastic paraplegia 28, autosomal recessive [OMIM 614603]
—
DDHD2
ClinEX Pro
Spastic paraplegia 54, autosomal recessive [OMIM 615003]
—
DDOST
ClinEX Pro
?Congenital disorder of glycosylation, type Ir [OMIM 602202]
—
DDRGK1
ClinEX Pro
Spondyloepimetaphyseal dysplasia, Shohat type [OMIM 616177]
—
DDX11
ClinEX Pro
Warsaw breakage syndrome [OMIM 601150]
—
DDX3X
ClinEX Pro
Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type [OMIM 300160]
—
DDX58
ClinEX Pro
Singleton-Merten syndrome 2 [OMIM 609631]
—
DDX59
ClinEX Pro
Orofaciodigital syndrome V [OMIM 615464]
—
DDX6
ClinEX Pro
Intellectual developmental disorder with impaired language and dysmorphic facies [OMIM 600326]
—
DEAF1
ClinEX Pro
Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures; Vulto-van Silfout-de Vries syndrome [OMIM 602635]
—
DEGS1
ClinEX Pro
Leukodystrophy, hypomyelinating, 18 [OMIM 615843]
—
DEK
ClinEX Pro
Leukemia, acute nonlymphocytic [OMIM 125264]
—
DENND5A
ClinEX Pro
Developmental and epileptic encephalopathy 49 [OMIM 617278]
—
DEPDC5
ClinEX Pro
Epilepsy, familial focal, with variable foci 1 [OMIM 614191]
—
DGKE
ClinEX Pro
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}; Nephrotic syndrome, type 7 [OMIM 601440]
—
DGUOK
ClinEX Pro
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 [OMIM 601465]
—
DHCR24
ClinEX Pro
Desmosterolosis [OMIM 606418]
—
DHDDS
ClinEX Pro
?Congenital disorder of glycosylation, type 1bb; Developmental delay and seizures with or without movement abnormalities; Retinitis pigmentosa 59 [OMIM 608172]
—
DHFR
ClinEX Pro
Megaloblastic anemia due to dihydrofolate reductase deficiency [OMIM 126060]
—
DHH
ClinEX Pro
46XY gonadal dysgenesis with minifascicular neuropathy; 46XY sex reversal 7 [OMIM 605423]
—
DHODH
ClinEX Pro
Miller syndrome [OMIM 126064]
—
DNAH10
ClinEX Pro
Spermatogenic failure 56 [OMIM 605884]
—
DHPS
ClinEX Pro
Neurodevelopmental disorder with seizures and speech and walking impairment [OMIM 600944]
—
DHTKD1
ClinEX Pro
?Charcot-Marie-Tooth disease, axonal, type 2Q; 2-aminoadipic 2-oxoadipic aciduria [OMIM 614984]
—
DHX16
ClinEX Pro
Neuromuscular disease and ocular or auditory anomalies with or without seizures [OMIM 603405]
—
DHX30
ClinEX Pro
Neurodevelopmental disorder with severe motor impairment and absent language [OMIM 616423]
—
DHX37
ClinEX Pro
46, XY sex reversal 11; Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies [OMIM 617362]
—
DHX38
ClinEX Pro
Retinitis pigmentosa 84 [OMIM 605584]
—
DIABLO
ClinEX Pro
Deafness, autosomal dominant 64 [OMIM 605219]
—
DIAPH1
ClinEX Pro
Deafness, autosomal dominant 1, with or without thrombocytopenia; Seizures, cortical blindness, microcephaly syndrome [OMIM 602121]
—
DIAPH2
ClinEX Pro
?Premature ovarian failure 2A [OMIM 300108]
—
DIAPH3
ClinEX Pro
Auditory neuropathy, autosomal dominant, 1 [OMIM 614567]
—
DICER1
ClinEX Pro
GLOW syndrome, somatic mosaic; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2 [OMIM 606241]
—
DIP2B
ClinEX Pro
Mental retardation, FRA12A type [OMIM 611379]
—
DIS3L2
ClinEX Pro
Perlman syndrome [OMIM 614184]
—
DISC1
ClinEX Pro
{Schizophrenia 9, susceptibility to} [OMIM 605210]
—
DISC2
ClinEX Pro
Schizophrenia [OMIM 606271]
—
DNAJC30
ClinEX Pro
Leber hereditary optic neuropathy, autosomal recessive [OMIM 618202]
—
DLC1
ClinEX Pro
Colorectal cancer, somatic [OMIM 604258]
—
DLG3
ClinEX Pro
Mental retardation, X-linked 90 [OMIM 300189]
—
DLG4
ClinEX Pro
Intellectual developmental disorder 62 [OMIM 602887]
—
DNASE2
ClinEX Pro
Autoinflammatory-pancytopenia syndrome [OMIM 126350]
—
DLL1
ClinEX Pro
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [OMIM 606582]
—
DLL3
ClinEX Pro
Spondylocostal dysostosis 1, autosomal recessive [OMIM 602768]
—
DLL4
ClinEX Pro
Adams-Oliver syndrome 6 [OMIM 605185]
—
DLST
ClinEX Pro
Paragangliomas 7 [OMIM 126063]
—
DLX3
ClinEX Pro
Amelogenesis imperfecta, type IV; Trichodontoosseous syndrome [OMIM 600525]
—
DLX4
ClinEX Pro
?Orofacial cleft 15 [OMIM 601911]
—
DLX5
ClinEX Pro
?Split-hand/foot malformation 1 with sensorineural hearing loss; Split- hand/foot malformation 1 [OMIM 600028]
—
DMGDH
ClinEX Pro
Dimethylglycine dehydrogenase deficiency [OMIM 605849]
—
DMP1
ClinEX Pro
Hypophosphatemic rickets, AR [OMIM 600980]
—
DMPK
ClinEX Pro
Myotonic dystrophy 1 [OMIM 605377]
—
DMXL2
ClinEX Pro
?Deafness, autosomal dominant 71; ?Polyendocrine-polyneuropathy syndrome; Developmental and epileptic encephalopathy 81 [OMIM 612186]
—
DNA2
ClinEX Pro
?Seckel syndrome 8; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 [OMIM 601810]
—
DNAAF1
ClinEX Pro
Ciliary dyskinesia, primary, 13 [OMIM 613190]
—
DNAAF11
ClinEX Pro
Ciliary dyskinesia, primary, 19 [OMIM 614930]
—
DNAAF2
ClinEX Pro
Ciliary dyskinesia, primary, 10 [OMIM 612517]
—
DNAAF3
ClinEX Pro
Ciliary dyskinesia, primary, 2 [OMIM 614566]
—
DNAAF4
ClinEX Pro
{Dyslexia, susceptibility to, 1}; Ciliary dyskinesia, primary, 25 [OMIM 608706]
—
DNAAF5
ClinEX Pro
Ciliary dyskinesia, primary, 18 [OMIM 614864]
—
DNAAF6
ClinEX Pro
Ciliary dyskinesia, primary, 36, X-linked [OMIM 300933]
—
DNAH1
ClinEX Pro
?Ciliary dyskinesia, primary, 37; Spermatogenic failure 18 [OMIM 603332]
—
DNAH11
ClinEX Pro
Ciliary dyskinesia, primary, 7, with or without situs inversus [OMIM 603339]
—
DNAH17
ClinEX Pro
Spermatogenic failure 39 [OMIM 610063]
—
DNAH2
ClinEX Pro
Spermatogenic failure 45 [OMIM 603333]
—
DNAH5
ClinEX Pro
Ciliary dyskinesia, primary, 3, with or without situs inversus [OMIM 603335]
—
DNAH8
ClinEX Pro
Spermatogenic failure 46 [OMIM 603337]
—
DNAH9
ClinEX Pro
Ciliary dyskinesia, primary, 40 [OMIM 603330]
—
DNAI1
ClinEX Pro
Ciliary dyskinesia, primary, 1, with or without situs inversus [OMIM 604366]
—
DNAI2
ClinEX Pro
Ciliary dyskinesia, primary, 9, with or without situs inversus [OMIM 605483]
—
DNAJB11
ClinEX Pro
Polycystic kidney disease 6 with or without polycystic liver disease [OMIM 611341]
—
DNAJB13
ClinEX Pro
Ciliary dyskinesia, primary, 34 [OMIM 610263]
—
DNAJB2
ClinEX Pro
Spinal muscular atrophy, distal, autosomal recessive, 5 [OMIM 604139]
—
DNAJB6
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal dominant 1 [OMIM 611332]
—
DNAJC12
ClinEX Pro
Hyperphenylalaninemia, mild, non-BH4-deficient [OMIM 606060]
—
DNAJC21
ClinEX Pro
Bone marrow failure syndrome 3 [OMIM 617048]
—
DNAJC3
ClinEX Pro
?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus [OMIM 601184]
—
DNAJC5
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 4, Parry type [OMIM 611203]
—
DNAJC6
ClinEX Pro
Parkinson disease 19a, juvenile-onset; Parkinson disease 19b, early-onset [OMIM 608375]
—
DNAL1
ClinEX Pro
Ciliary dyskinesia, primary, 16 [OMIM 610062]
—
DNAL4
ClinEX Pro
?Mirror movements 3 [OMIM 610565]
—
DNASE1
ClinEX Pro
{Systemic lupus erythematosus, susceptibility to} [OMIM 125505]
—
DNASE1L3
ClinEX Pro
Systemic lupus erythematosus 16 [OMIM 602244]
—
DNHD1
ClinEX Pro
Spermatogenic failure 65 [OMIM 617277]
—
DNM1
ClinEX Pro
Developmental and epileptic encephalopathy 31 [OMIM 602377]
—
DNM1L
ClinEX Pro
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1; Optic atrophy 5 [OMIM 603850]
—
DNM2
ClinEX Pro
Centronuclear myopathy 1; Charcot-Marie-Tooth disease, axonal type 2M; Charcot-Marie-Tooth disease, dominant intermediate B; Lethal congenital contracture syndrome 5 [OMIM 602378]
—
DNMBP
ClinEX Pro
Cataract 48 [OMIM 611282]
—
DNMT1
ClinEX Pro
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Neuropathy, hereditary sensory, type IE [OMIM 126375]
—
DNMT3B
ClinEX Pro
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [OMIM 602900]
—
DOCK2
ClinEX Pro
Immunodeficiency 40 [OMIM 603122]
—
DOCK3
ClinEX Pro
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [OMIM 603123]
—
DOCK6
ClinEX Pro
Adams-Oliver syndrome 2 [OMIM 614194]
—
DOCK7
ClinEX Pro
Developmental and epileptic encephalopathy 23 [OMIM 615730]
—
DONSON
ClinEX Pro
Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities [OMIM 611428]
—
DPF2
ClinEX Pro
Coffin-Siris syndrome 7 [OMIM 601671]
—
DPH1
ClinEX Pro
Developmental delay with short stature, dysmorphic facial features, and sparse hair [OMIM 603527]
—
DPM1
ClinEX Pro
Congenital disorder of glycosylation, type Ie [OMIM 603503]
—
DPM2
ClinEX Pro
Congenital disorder of glycosylation, type Iu [OMIM 603564]
—
DPM3
ClinEX Pro
?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 15 [OMIM 605951]
—
DPY19L2
ClinEX Pro
Spermatogenic failure 9 [OMIM 613893]
—
DPYD
ClinEX Pro
5-fluorouracil toxicity; Dihydropyrimidine dehydrogenase deficiency [OMIM 612779]
—
DPYS
ClinEX Pro
Dihydropyrimidinuria [OMIM 613326]
—
DPYSL5
ClinEX Pro
Ritscher-Schinzel syndrome 4 [OMIM 608383]
—
DRAM2
ClinEX Pro
Cone-rod dystrophy 21 [OMIM 613360]
—
DRC1
ClinEX Pro
Ciliary dyskinesia, primary, 21 [OMIM 615288]
—
DRD3
ClinEX Pro
{Essential tremor, hereditary, 1}; {Schizophrenia, susceptibility to} [OMIM 126451]
—
DRD4
ClinEX Pro
{Attention deficit-hyperactivity disorder}; Autonomic nervous system dysfunction [OMIM 126452]
—
DRD5
ClinEX Pro
{Attention deficit-hyperactivity disorder, susceptibility to}; {Blepharospasm, primary benign} [OMIM 126453]
—
DSC3
ClinEX Pro
?Hypotrichosis and recurrent skin vesicles [OMIM 600271]
—
DSE
ClinEX Pro
Ehlers-Danlos syndrome, musculocontractural type 2 [OMIM 605942]
—
DSG1
ClinEX Pro
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE; Keratosis palmoplantaris striata I, AD [OMIM 125670]
—
DSG3
ClinEX Pro
Blistering, acantholytic, of oral and laryngeal mucosa [OMIM 169615]
—
DSG4
ClinEX Pro
Hypotrichosis 6 [OMIM 607892]
—
DSPP
ClinEX Pro
Deafness, autosomal dominant 39, with dentinogenesis; Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II; Dentinogenesis imperfecta, Shields type III [OMIM 125485]
—
DST
ClinEX Pro
?Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 [OMIM 113810]
—
DSTYK
ClinEX Pro
Congenital anomalies of kidney and urinary tract 1; Spastic paraplegia 23 [OMIM 612666]
—
DTNBP1
ClinEX Pro
Hermansky-Pudlak syndrome 7 [OMIM 607145]
—
DTYMK
ClinEX Pro
Neurodegeneration, childhood-onset, with progressive microcephaly [OMIM 188345]
—
DUSP6
ClinEX Pro
Hypogonadotropic hypogonadism 19 with or without anosmia [OMIM 602748]
—
DVL1
ClinEX Pro
Robinow syndrome, autosomal dominant 2 [OMIM 601365]
—
DVL3
ClinEX Pro
Robinow syndrome, autosomal dominant 3 [OMIM 601368]
—
DYM
ClinEX Pro
Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia [OMIM 607461]
—
DYNC1H1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity- predominant 1, AD [OMIM 600112]
—
DYNC1I2
ClinEX Pro
Neurodevelopmental disorder with microcephaly and structural brain anomalies [OMIM 603331]
—
DYNC2H1
ClinEX Pro
Short-rib thoracic dysplasia 3 with or without polydactyly [OMIM 603297]
—
DYNC2I1
ClinEX Pro
Short-rib thoracic dysplasia 8 with or without polydactyly [OMIM 615462]
—
DYNC2I2
ClinEX Pro
Short-rib thoracic dysplasia 11 with or without polydactyly [OMIM 613363]
—
DYNC2LI1
ClinEX Pro
Short-rib thoracic dysplasia 15 with polydactyly [OMIM 617083]
—
DYNLT2B
ClinEX Pro
Short-rib thoracic dysplasia 17 with or without polydactyly [OMIM 617353]
—
DYRK1A
ClinEX Pro
Mental retardation, autosomal dominant 7 [OMIM 600855]
—
DYRK1B
ClinEX Pro
Abdominal obesity-metabolic syndrome 3 [OMIM 604556]
—
ELF4
ClinEX Pro
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 [OMIM 300775]
—
DZIP1
ClinEX Pro
?Mitral valve prolapse 3; Spermatogenic failure 47 [OMIM 608671]
—
DZIP1L
ClinEX Pro
Polycystic kidney disease 5 [OMIM 617570]
—
EARS2
ClinEX Pro
Combined oxidative phosphorylation deficiency 12 [OMIM 612799]
—
EBF3
ClinEX Pro
Hypotonia, ataxia, and delayed development syndrome [OMIM 607407]
—
EBP
ClinEX Pro
Chondrodysplasia punctata, X-linked dominant; MEND syndrome [OMIM 300205]
—
ECE1
ClinEX Pro
?Hirschsprung disease, cardiac defects, and autonomic dysfunction; {Hypertension, essential, susceptibility to} [OMIM 600423]
—
ECEL1
ClinEX Pro
Arthrogryposis, distal, type 5D [OMIM 605896]
—
ECHS1
ClinEX Pro
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency [OMIM 602292]
—
ECM1
ClinEX Pro
Urbach-Wiethe disease [OMIM 602201]
—
EDA
ClinEX Pro
Ectodermal dysplasia 1, hypohidrotic, X-linked; Tooth agenesis, selective, X- linked 1 [OMIM 300451]
—
EDAR
ClinEX Pro
[Hair morphology 1, hair thickness]; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [OMIM 604095]
—
EDARADD
ClinEX Pro
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [OMIM 606603]
—
EDC3
ClinEX Pro
?Mental retardation, autosomal recessive 50 [OMIM 609842]
—
EDEM3
ClinEX Pro
Congenital disorder of glycosylation, type 2V [OMIM 610214]
—
EDN1
ClinEX Pro
{High density lipoprotein cholesterol level QTL 7}; Auriculocondylar syndrome 3; Question mark ears, isolated [OMIM 131240]
—
EDN3
ClinEX Pro
{Hirschsprung disease, susceptibility to, 4}; Central hypoventilation syndrome, congenital; Waardenburg syndrome, type 4B [OMIM 131242]
—
EDNRA
ClinEX Pro
{Migraine, resistance to}; Mandibulofacial dysostosis with alopecia [OMIM 131243]
—
EDNRB
ClinEX Pro
{Hirschsprung disease, susceptibility to, 2}; ABCD syndrome; Waardenburg syndrome, type 4A [OMIM 131244]
—
EED
ClinEX Pro
Cohen-Gibson syndrome [OMIM 605984]
—
EEF1A2
ClinEX Pro
Developmental and epileptic encephalopathy 33; Mental retardation, autosomal dominant 38 [OMIM 602959]
—
EEF2
ClinEX Pro
?Spinocerebellar ataxia 26 [OMIM 130610]
—
EFEMP1
ClinEX Pro
Doyne honeycomb degeneration of retina [OMIM 601548]
—
EFHC1
ClinEX Pro
{Epilepsy, juvenile absence, susceptibility to, 1}; {Myoclonic epilepsy, juvenile, susceptibility to, 1} [OMIM 608815]
—
EFNB1
ClinEX Pro
Craniofrontonasal dysplasia [OMIM 300035]
—
EFTUD2
ClinEX Pro
Mandibulofacial dysostosis, Guion-Almeida type [OMIM 603892]
—
EGF
ClinEX Pro
Hypomagnesemia 4, renal [OMIM 131530]
—
EGLN1
ClinEX Pro
[Hemoglobin, high altitude adaptation]; Erythrocytosis, familial, 3 [OMIM 606425]
—
EGR2
ClinEX Pro
Charcot-Marie-Tooth disease, type 1D; Dejerine-Sottas disease; Hypomyelinating neuropathy, congenital, 1 [OMIM 129010]
—
EHBP1
ClinEX Pro
{Prostate cancer, hereditary, 12} [OMIM 609922]
—
EHHADH
ClinEX Pro
?Fanconi renotubular syndrome 3 [OMIM 607037]
—
EHMT1
ClinEX Pro
Kleefstra syndrome 1 [OMIM 607001]
—
EIF2AK1
ClinEX Pro
?Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome [OMIM 613635]
—
EIF2AK2
ClinEX Pro
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome [OMIM 176871]
—
EIF2AK4
ClinEX Pro
Pulmonary venoocclusive disease 2 [OMIM 609280]
—
EIF2B1
ClinEX Pro
Leukoencephalopathy with vanishing white matter [OMIM 606686]
—
EIF2B2
ClinEX Pro
Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy [OMIM 606454]
—
EIF2B3
ClinEX Pro
Leukoencephalopathy with vanishing white matter [OMIM 606273]
—
EIF2B4
ClinEX Pro
Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy [OMIM 606687]
—
EIF2B5
ClinEX Pro
Leukoencephalopathy with vanishing white matter; Ovarioleukodystrophy [OMIM 603945]
—
EIF2S3
ClinEX Pro
MEHMO syndrome [OMIM 300161]
—
EIF3F
ClinEX Pro
Mental retardation, autosomal recessive 67 [OMIM 603914]
—
EIF4A3
ClinEX Pro
Robin sequence with cleft mandible and limb anomalies [OMIM 608546]
—
EIF4E
ClinEX Pro
{Autism, susceptibility to, 19} [OMIM 133440]
—
EIF4G1
ClinEX Pro
{Parkinson disease 18} [OMIM 600495]
—
EIF5A
ClinEX Pro
Faundes-Banka syndrome [OMIM 600187]
—
ELAC2
ClinEX Pro
{Prostate cancer, hereditary, 2, susceptibility to}; Combined oxidative phosphorylation deficiency 17 [OMIM 605367]
—
ELMO2
ClinEX Pro
Vascular malformation, primary intraosseous [OMIM 606421]
—
ELMOD3
ClinEX Pro
?Deafness, autosomal recessive 88 [OMIM 615427]
—
ELOVL1
ClinEX Pro
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies [OMIM 611813]
—
ELOVL4
ClinEX Pro
Ichthyosis, spastic quadriplegia, and mental retardation; Spinocerebellar ataxia 34; Stargardt disease 3 [OMIM 605512]
—
ELOVL5
ClinEX Pro
Spinocerebellar ataxia 38 [OMIM 611805]
—
ELP2
ClinEX Pro
Mental retardation, autosomal recessive 58 [OMIM 616054]
—
ELP4
ClinEX Pro
?Aniridia 2 [OMIM 606985]
—
EMC1
ClinEX Pro
Cerebellar atrophy, visual impairment, and psychomotor retardation [OMIM 616846]
—
EMC10
ClinEX Pro
Neurodevelopmental disorder with dysmorphic facies and variable seizures [OMIM 614545]
—
EMG1
ClinEX Pro
Bowen-Conradi syndrome [OMIM 611531]
—
EML1
ClinEX Pro
Band heterotopia [OMIM 602033]
—
EMP2
ClinEX Pro
Nephrotic syndrome, type 10 [OMIM 602334]
—
EMX2
ClinEX Pro
Schizencephaly [OMIM 600035]
—
EN1
ClinEX Pro
?ENDOVE syndrome, limb-brain type [OMIM 131290]
—
ENAM
ClinEX Pro
Amelogenesis imperfecta, type IB; Amelogenesis imperfecta, type IC [OMIM 606585]
—
ENG
ClinEX Pro
Telangiectasia, hereditary hemorrhagic, type 1 [OMIM 131195]
—
ENO1
ClinEX Pro
Enolase deficiency [OMIM 172430]
—
ENO3
ClinEX Pro
?Glycogen storage disease XIII [OMIM 131370]
—
ENPP1
ClinEX Pro
{Diabetes mellitus, non-insulin-dependent, susceptibility to}; {Obesity, susceptibility to}; Arterial calcification, generalized, of infancy, 1; Cole disease; Hypophosphatemic rickets, autosomal recessive, 2 [OMIM 173335]
—
ENTPD1
ClinEX Pro
Spastic paraplegia 64, autosomal recessive [OMIM 601752]
—
EXOC2
ClinEX Pro
eurodevelopmental disorder with dysmorphic facies and cerebellar hypoplas [OMIM 615329N]
—
EOGT
ClinEX Pro
Adams-Oliver syndrome 4 [OMIM 614789]
—
EPAS1
ClinEX Pro
Erythrocytosis, familial, 4 [OMIM 603349]
—
EPB41
ClinEX Pro
Elliptocytosis-1 [OMIM 130500]
—
EPB41L1
ClinEX Pro
?Mental retardation, autosomal dominant 11 [OMIM 602879]
—
EXOSC5
ClinEX Pro
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects [OMIM 606492]
—
EPG5
ClinEX Pro
Vici syndrome [OMIM 615068]
—
EPHA2
ClinEX Pro
Cataract 6, multiple types [OMIM 176946]
—
EPHB2
ClinEX Pro
?Bleeding disorder, platelet-type, 22; {Prostate cancer/brain cancer susceptibility, somatic} [OMIM 600997]
—
EPHB4
ClinEX Pro
Capillary malformation-arteriovenous malformation 2; Lymphatic malformation 7 [OMIM 600011]
—
EPHX2
ClinEX Pro
{Hypercholesterolemia, familial, due to LDLR defect, modifier of} [OMIM 132811]
—
EPM2A
ClinEX Pro
Epilepsy, progressive myoclonic 2A (Lafora) [OMIM 607566]
—
EPO
ClinEX Pro
?Diamond-Blackfan anemia-like; {Microvascular complications of diabetes 2}; Erythrocytosis, familial, 5 [OMIM 133170]
—
EPOR
ClinEX Pro
[Erythrocytosis, familial, 1] [OMIM 133171]
—
EPRS1
ClinEX Pro
Leukodystrophy, hypomyelinating, 15 [OMIM 138295]
—
EPS8
ClinEX Pro
?Deafness, autosomal recessive 102 [OMIM 600206]
—
EPS8L2
ClinEX Pro
Deafness autosomal recessive 106 [OMIM 614988]
—
EPS8L3
ClinEX Pro
?Hypotrichosis 5 [OMIM 614989]
—
EPX
ClinEX Pro
[Eosinophil peroxidase deficiency] [OMIM 131399]
—
ERAL1
ClinEX Pro
Perrault syndrome 6 [OMIM 607435]
—
ERBB3
ClinEX Pro
?Lethal congenital contractural syndrome 2; {?Erythroleukemia, familial, susceptibility to} [OMIM 190151]
—
ERCC1
ClinEX Pro
Cerebrooculofacioskeletal syndrome 4 [OMIM 126380]
—
ERCC2
ClinEX Pro
?Cerebrooculofacioskeletal syndrome 2; Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum, group D [OMIM 126340]
—
ERCC3
ClinEX Pro
Trichothiodystrophy 2, photosensitive; Xeroderma pigmentosum, group B [OMIM 133510]
—
ERCC5
ClinEX Pro
Cerebrooculofacioskeletal syndrome 3; Xeroderma pigmentosum, group G; Xeroderma pigmentosum, group G/Cockayne syndrome [OMIM 133530]
—
ERCC6L2
ClinEX Pro
Bone marrow failure syndrome 2 [OMIM 615667]
—
ERCC8
ClinEX Pro
Cockayne syndrome, type A; UV-sensitive syndrome 2 [OMIM 609412]
—
ERF
ClinEX Pro
Chitayat syndrome; Craniosynostosis 4 [OMIM 611888]
—
ERGIC1
ClinEX Pro
?Arthrogryposis multiplex congenita 2, neurogenic type [OMIM 617946]
—
ERLIN1
ClinEX Pro
Spastic paraplegia 62 [OMIM 611604]
—
ERLIN2
ClinEX Pro
Spastic paraplegia 18, autosomal recessive [OMIM 611605]
—
ERMAP
ClinEX Pro
[Blood group, Radin]; [Blood group, Scianna system] [OMIM 609017]
—
ERMARD
ClinEX Pro
?Periventricular nodular heterotopia 6 [OMIM 615532]
—
ESCO2
ClinEX Pro
Juberg-Hayward syndrome; Roberts-SC phocomelia syndrome [OMIM 609353]
—
ESPN
ClinEX Pro
?Usher syndrome, type 1M; Deafness, autosomal recessive 36; Deafness, neurosensory, without vestibular involvement, autosomal dominant [OMIM 606351]
—
ESR2
ClinEX Pro
?Ovarian dysgenesis 8 [OMIM 601663]
—
ESRRB
ClinEX Pro
Deafness, autosomal recessive 35 [OMIM 602167]
—
EVC
ClinEX Pro
?Weyers acrofacial dysostosis; Ellis-van Creveld syndrome [OMIM 604831]
—
EVC2
ClinEX Pro
Ellis-van Creveld syndrome; Weyers acrofacial dysostosis [OMIM 607261]
—
EXOC6B
ClinEX Pro
Spondyloepimetaphyseal dysplasia with joint laxity, type 3 [OMIM 607880]
—
EXOC7
ClinEX Pro
Neurodevelopmental disorder with seizures and brain atrophy [OMIM 608163]
—
EXOC8
ClinEX Pro
?Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy [OMIM 615283]
—
EXOSC1
ClinEX Pro
?Pontocerebellar hypoplasia, type 1F [OMIM 606493]
—
EXOSC2
ClinEX Pro
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies [OMIM 602238]
—
EXOSC3
ClinEX Pro
Pontocerebellar hypoplasia, type 1B [OMIM 606489]
—
EXOSC8
ClinEX Pro
Pontocerebellar hypoplasia, type 1C [OMIM 606019]
—
EXOSC9
ClinEX Pro
Pontocerebellar hypoplasia, type 1D [OMIM 606180]
—
EXPH5
ClinEX Pro
Epidermolysis bullosa, nonspecific, autosomal recessive [OMIM 612878]
—
FBP2
ClinEX Pro
?Leukodystrophy, childhood-onset, remitting [OMIM 603027]
—
EXT1
ClinEX Pro
Chondrosarcoma; Exostoses, multiple, type 1 [OMIM 608177]
—
EXT2
ClinEX Pro
Exostoses, multiple, type 2; Seizures, scoliosis, and macrocephaly syndrome [OMIM 608210]
—
EXTL3
ClinEX Pro
Immunoskeletal dysplasia with neurodevelopmental abnormalities [OMIM 605744]
—
FBXO28
ClinEX Pro
Developmental and epileptic encephalopathy 100 [OMIM 609100]
—
EYA1
ClinEX Pro
?Otofaciocervical syndrome; Anterior segment anomalies with or without cataract; Branchiootic syndrome 1; Branchiootorenal syndrome 1, with or without cataracts [OMIM 601653]
—
EYS
ClinEX Pro
Retinitis pigmentosa 25 [OMIM 612424]
—
F10
ClinEX Pro
Factor X deficiency [OMIM 613872]
—
F11
ClinEX Pro
Factor XI deficiency, autosomal dominant; Factor XI deficiency, autosomal recessive [OMIM 264900]
—
F12
ClinEX Pro
Angioedema, hereditary, type III; Factor XII deficiency [OMIM 610619]
—
F7
ClinEX Pro
{Myocardial infarction, decreased susceptibility to}; Factor VII deficiency [OMIM 613878]
—
FA2H
ClinEX Pro
Spastic paraplegia 35, autosomal recessive [OMIM 611026]
—
FAAH
ClinEX Pro
{Drug addiction, susceptibility to} [OMIM 602935]
—
FADD
ClinEX Pro
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations [OMIM 602457]
—
FAM111A
ClinEX Pro
Gracile bone dysplasia; Kenny-Caffey syndrome, type 2 [OMIM 615292]
—
FAM111B
ClinEX Pro
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis [OMIM 615584]
—
FAM126A
ClinEX Pro
Leukodystrophy, hypomyelinating, 5 [OMIM 610531]
—
FAM149B1
ClinEX Pro
Joubert syndrome 36 [OMIM 618413]
—
FAM161A
ClinEX Pro
Retinitis pigmentosa 28 [OMIM 613596]
—
FAM20A
ClinEX Pro
Amelogenesis imperfecta, type IG (enamel-renal syndrome) [OMIM 611062]
—
FAM20C
ClinEX Pro
Raine syndrome [OMIM 611061]
—
FAM50A
ClinEX Pro
Intellectual developmental disorder, X-linked, syndromic, Armfield type [OMIM 300453]
—
FAM83H
ClinEX Pro
Amelogenesis imperfecta, type IIIA [OMIM 611927]
—
FAN1
ClinEX Pro
Interstitial nephritis, karyomegalic [OMIM 613534]
—
FANCM
ClinEX Pro
?Premature ovarian failure 15; Spermatogenic failure 28 [OMIM 609644]
—
FAR1
ClinEX Pro
Peroxisomal fatty acyl-CoA reductase 1 disorder [OMIM 616107]
—
FARS2
ClinEX Pro
Combined oxidative phosphorylation deficiency 14; Spastic paraplegia 77, autosomal recessive [OMIM 611592]
—
FARSA
ClinEX Pro
?Rajab interstitial lung disease with brain calcifications 2 [OMIM 602918]
—
FARSB
ClinEX Pro
Rajab interstitial lung disease with brain calcifications 1 [OMIM 609690]
—
FHOD3
ClinEX Pro
Cardiomyopathy, familial hypertrophic, 28 [OMIM 609691]
—
FASLG
ClinEX Pro
{Lung cancer, susceptibility to}; Autoimmune lymphoproliferative syndrome, type IB [OMIM 134638]
—
FASTKD2
ClinEX Pro
Combined oxidative phosphorylation deficiency 44 [OMIM 612322]
—
FAT2
ClinEX Pro
Spinocerebellar ataxia 45 [OMIM 604269]
—
FAT4
ClinEX Pro
Hennekam lymphangiectasia-lymphedema syndrome 2; Van Maldergem syndrome 2 [OMIM 612411]
—
FBLN1
ClinEX Pro
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses [OMIM 135820]
—
FBLN5
ClinEX Pro
?Cutis laxa, autosomal dominant 2; Cutis laxa, autosomal recessive, type IA; Macular degeneration, age-related, 3; Neuropathy, hereditary, with or without age-related macular degeneration [OMIM 604580]
—
FBXL3
ClinEX Pro
Intellectual developmental disorder with short stature, facial anomalies, and speech defects [OMIM 605653]
—
FBXL4
ClinEX Pro
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) [OMIM 605654]
—
FBXO11
ClinEX Pro
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities [OMIM 607871]
—
FBXO31
ClinEX Pro
?Mental retardation, autosomal recessive 45 [OMIM 609102]
—
FBXO43
ClinEX Pro
Oocyte maturation defect 12 [OMIM 609110]
—
FBXO7
ClinEX Pro
Parkinson disease 15, autosomal recessive [OMIM 605648]
—
FBXW11
ClinEX Pro
Neurodevelopmental, jaw, eye, and digital syndrome [OMIM 605651]
—
FCGR1A
ClinEX Pro
[IgG receptor I, phagocytic, familial deficiency of] [OMIM 146760]
—
FCGR2A
ClinEX Pro
{Lupus nephritis, susceptibility to}; {Malaria, severe, susceptibility to}; {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis} [OMIM 146790]
—
FCGR2B
ClinEX Pro
{Malaria, resistance to}; {Systemic lupus erythematosus, susceptibility to} [OMIM 604590]
—
FCGR3A
ClinEX Pro
Immunodeficiency 20 [OMIM 146740]
—
FCHO1
ClinEX Pro
Immunodeficiency 76 [OMIM 613437]
—
FCN3
ClinEX Pro
Immunodeficiency due to ficolin 3 deficiency [OMIM 604973]
—
FCSK
ClinEX Pro
Congenital disorder of glycosylation with defective fucosylation 2 [OMIM 608675]
—
FDFT1
ClinEX Pro
Squalene synthase deficiency [OMIM 184420]
—
FDPS
ClinEX Pro
Porokeratosis 9, multiple types [OMIM 134629]
—
FDX2
ClinEX Pro
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy [OMIM 614585]
—
FDXR
ClinEX Pro
Auditory neuropathy and optic atrophy [OMIM 103270]
—
FECH
ClinEX Pro
Protoporphyria, erythropoietic, 1 [OMIM 612386]
—
FERMT1
ClinEX Pro
Kindler syndrome [OMIM 607900]
—
FEZF1
ClinEX Pro
Hypogonadotropic hypogonadism 22, with or without anosmia [OMIM 613301]
—
FFAR4
ClinEX Pro
{Obesity, susceptibility to} [OMIM 609044]
—
FGA
ClinEX Pro
Afibrinogenemia, congenital; Amyloidosis, familial visceral; Dysfibrinogenemia, congenital; Hypodysfibrinogenemia, congenital [OMIM 134820]
—
FGB
ClinEX Pro
Afibrinogenemia, congenital; Dysfibrinogenemia, congenital; Hypofibrinogenemia, congenital [OMIM 134830]
—
FGD1
ClinEX Pro
Aarskog-Scott syndrome; Mental retardation, X-linked syndromic 16 [OMIM 300546]
—
FGD4
ClinEX Pro
Charcot-Marie-Tooth disease, type 4H [OMIM 611104]
—
FGF10
ClinEX Pro
Aplasia of lacrimal and salivary glands; LADD syndrome [OMIM 602115]
—
FGF13
ClinEX Pro
Developmental and epileptic encephalopathy 90 [OMIM 300070]
—
FGF14
ClinEX Pro
Spinocerebellar ataxia 27 [OMIM 601515]
—
FGF16
ClinEX Pro
Metacarpal 4-5 fusion [OMIM 300827]
—
FGF17
ClinEX Pro
Hypogonadotropic hypogonadism 20 with or without anosmia [OMIM 603725]
—
FGF20
ClinEX Pro
?Renal hypodysplasia/aplasia 2 [OMIM 605558]
—
FGF23
ClinEX Pro
Hypophosphatemic rickets, autosomal dominant; Tumoral calcinosis, hyperphosphatemic, familial, 2 [OMIM 605380]
—
FGF3
ClinEX Pro
Deafness, congenital with inner ear agenesis, microtia, and microdontia [OMIM 164950]
—
FGF5
ClinEX Pro
Trichomegaly [OMIM 165190]
—
FGF8
ClinEX Pro
Hypogonadotropic hypogonadism 6 with or without anosmia [OMIM 600483]
—
FGF9
ClinEX Pro
Multiple synostoses syndrome 3 [OMIM 600921]
—
FGFR4
ClinEX Pro
{Cancer progression/metastasis} [OMIM 134935]
—
FGG
ClinEX Pro
Afibrinogenemia, congenital; Dysfibrinogenemia, congenital; Hypodysfibrinogenemia; Hypofibrinogenemia, congenital [OMIM 134850]
—
FH
ClinEX Pro
Fumarase deficiency; Leiomyomatosis and renal cell cancer [OMIM 136850]
—
FIBP
ClinEX Pro
Thauvin-Robinet-Faivre syndrome [OMIM 608296]
—
FIG4
ClinEX Pro
?Polymicrogyria, bilateral temporooccipital; Amyotrophic lateral sclerosis 11; Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome [OMIM 609390]
—
FIGLA
ClinEX Pro
Premature ovarian failure 6 [OMIM 608697]
—
FITM2
ClinEX Pro
Siddiqi syndrome [OMIM 612029]
—
FKBP10
ClinEX Pro
Bruck syndrome 1; Osteogenesis imperfecta, type XI [OMIM 607063]
—
FKBP14
ClinEX Pro
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [OMIM 614505]
—
FKBP5
ClinEX Pro
{Major depressive disorder and accelerated response to antidepressant drug treatment} [OMIM 602623]
—
FLG
ClinEX Pro
{Dermatitis, atopic, susceptibility to, 2}; Ichthyosis vulgaris [OMIM 135940]
—
FLG2
ClinEX Pro
Peeling skin syndrome 6 [OMIM 616284]
—
FLNB
ClinEX Pro
Atelosteogenesis, type I; Atelosteogenesis, type III; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome [OMIM 603381]
—
FLRT3
ClinEX Pro
Hypogonadotropic hypogonadism 21 with anosmia [OMIM 604808]
—
FLT4
ClinEX Pro
Congenital heart defects, multiple types, 7; Hemangioma, capillary infantile, somatic; Lymphatic malformation 1 [OMIM 136352]
—
FLVCR1
ClinEX Pro
Ataxia, posterior column, with retinitis pigmentosa [OMIM 609144]
—
FLVCR2
ClinEX Pro
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome [OMIM 610865]
—
FMN2
ClinEX Pro
Mental retardation, autosomal recessive 47 [OMIM 606373]
—
FMO3
ClinEX Pro
Trimethylaminuria [OMIM 136132]
—
FNIP1
ClinEX Pro
Immunodeficiency 93 and hypertrophic cardiomyopathy [OMIM 610594]
—
FOXC1
ClinEX Pro
Anterior segment dysgenesis 3, multiple subtypes; Axenfeld-Rieger syndrome, type 3 [OMIM 601090]
—
FOXC2
ClinEX Pro
Lymphedema-distichiasis syndrome; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus [OMIM 602402]
—
FOXD3
ClinEX Pro
{Autoimmune disease, susceptibility to, 1} [OMIM 611539]
—
FOXF1
ClinEX Pro
Alveolar capillary dysplasia with misalignment of pulmonary veins [OMIM 601089]
—
FOXG1
ClinEX Pro
Rett syndrome, congenital variant [OMIM 164874]
—
FOXI1
ClinEX Pro
Enlarged vestibular aqueduct [OMIM 601093]
—
FOXJ1
ClinEX Pro
Ciliary dyskinesia, primary, 43 [OMIM 602291]
—
FOXP1
ClinEX Pro
Mental retardation with language impairment and with or without autistic features [OMIM 605515]
—
FOXP2
ClinEX Pro
Speech-language disorder-1 [OMIM 605317]
—
FOXRED1
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 19 [OMIM 613622]
—
FRAS1
ClinEX Pro
Fraser syndrome 1 [OMIM 607830]
—
FREM1
ClinEX Pro
Bifid nose with or without anorectal and renal anomalies; Manitoba oculotrichoanal syndrome; Trigonocephaly 2 [OMIM 608944]
—
FREM2
ClinEX Pro
Cryptophthalmos, unilateral or bilateral, isolated; Fraser syndrome 2 [OMIM 608945]
—
FRMD4A
ClinEX Pro
?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia [OMIM 616305]
—
FRMD7
ClinEX Pro
Nystagmus 1, congenital, X-linked; Nystagmus, infantile periodic alternating, X-linked [OMIM 300628]
—
FRMPD4
ClinEX Pro
Mental retardation, X-linked 104 [OMIM 300838]
—
FRRS1L
ClinEX Pro
Developmental and epileptic encephalopathy 37 [OMIM 604574]
—
FRZB
ClinEX Pro
{Osteoarthritis susceptibility 1} [OMIM 605083]
—
FSCN2
ClinEX Pro
Retinitis pigmentosa 30 [OMIM 607643]
—
FSHB
ClinEX Pro
Hypogonadotropic hypogonadism 24 without anosmia [OMIM 136530]
—
FSIP2
ClinEX Pro
Spermatogenic failure 34 [OMIM 615796]
—
FTCD
ClinEX Pro
Glutamate formiminotransferase deficiency [OMIM 606806]
—
FTH1
ClinEX Pro
?Hemochromatosis, type 5 [OMIM 134770]
—
FTL
ClinEX Pro
Hyperferritinemia-cataract syndrome; L-ferritin deficiency, dominant and recessive; Neurodegeneration with brain iron accumulation 3 [OMIM 134790]
—
FTO
ClinEX Pro
{Obesity, susceptibility to, BMIQ14}; Growth retardation, developmental delay, facial dysmorphism [OMIM 610966]
—
FTSJ1
ClinEX Pro
Mental retardation, X-linked 9/44 [OMIM 300499]
—
GBF1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2GG [OMIM 603698]
—
FUCA1
ClinEX Pro
Fucosidosis [OMIM 612280]
—
GCGR
ClinEX Pro
Mahvash disease [OMIM 138033]
—
FUT1
ClinEX Pro
[Bombay phenotype] [OMIM 211100]
—
FUT2
ClinEX Pro
[Bombay phenotype, digenic]; {Norwalk virus infection, resistance to}; {Vitamin B12 plasma level QTL1} [OMIM 182100]
—
FUT3
ClinEX Pro
[Blood group, Lewis] [OMIM 111100]
—
FUT6
ClinEX Pro
[Fucosyltransferase 6 deficiency] [OMIM 136836]
—
FUT8
ClinEX Pro
Congenital disorder of glycosylation with defective fucosylation 1 [OMIM 602589]
—
FUZ
ClinEX Pro
{Neural tube defects, susceptibility to} [OMIM 610622]
—
FXR1
ClinEX Pro
?Myopathy, congenital proximal, with minicore lesions; ?Myopathy, congenital, with respiratory insufficiency and bone fractures [OMIM 600819]
—
FXYD2
ClinEX Pro
Hypomagnesemia 2, renal [OMIM 601814]
—
FYB1
ClinEX Pro
Thrombocytopenia 3 [OMIM 602731]
—
FYCO1
ClinEX Pro
Cataract 18, autosomal recessive [OMIM 607182]
—
FZD2
ClinEX Pro
Omodysplasia 2 [OMIM 600667]
—
FZD4
ClinEX Pro
Exudative vitreoretinopathy 1; Retinopathy of prematurity [OMIM 604579]
—
FZD6
ClinEX Pro
Nail disorder, nonsyndromic congenital, 1 [OMIM 603409]
—
G6PC1
ClinEX Pro
Glycogen storage disease Ia [OMIM 613742]
—
GAB1
ClinEX Pro
?Deafness, autosomal recessive 26 [OMIM 604439]
—
GABBR2
ClinEX Pro
{Nicotine dependence, protection against}; {Nicotine dependence, susceptibility to}; Developmental and epileptic encephalopathy 59; Neurodevelopmental disorder with poor language and loss of hand skills [OMIM 607340]
—
GABRA1
ClinEX Pro
{Epilepsy, childhood absence, susceptibility to, 4}; {Epilepsy, juvenile myoclonic, susceptibility to, 5}; Developmental and epileptic encephalopathy 19 [OMIM 137160]
—
GABRA2
ClinEX Pro
{Alcohol dependence, susceptibility to}; Developmental and epileptic encephalopathy 78 [OMIM 137140]
—
GABRA5
ClinEX Pro
Developmental and epileptic encephalopathy 79 [OMIM 137142]
—
GABRB1
ClinEX Pro
Developmental and epileptic encephalopathy 45 [OMIM 137190]
—
GABRB2
ClinEX Pro
Developmental and epileptic encephalopathy 92 [OMIM 600232]
—
GABRB3
ClinEX Pro
{Epilepsy, childhood absence, susceptibility to, 5}; Developmental and epileptic encephalopathy 43 [OMIM 137192]
—
GFRA1
ClinEX Pro
Renal hypodysplasia/aplasia 4 [OMIM 601496]
—
GABRD
ClinEX Pro
{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}; {Epilepsy, idiopathic generalized, 10}; {Epilepsy, juvenile myoclonic, susceptibility to} [OMIM 137163]
—
GABRG2
ClinEX Pro
Developmental and epileptic encephalopathy 74; Epilepsy, generalized, with febrile seizures plus, type 3; Febrile seizures, familial, 8 [OMIM 137164]
—
GAD1
ClinEX Pro
?Cerebral palsy, spastic quadriplegic, 1; Developmental and epileptic encephalopathy 89 [OMIM 605363]
—
GAL
ClinEX Pro
?Epilepsy, familial temporal lobe, 8 [OMIM 137035]
—
GALM
ClinEX Pro
Galactosemia IV [OMIM 137030]
—
GALNT12
ClinEX Pro
{Colorectal cancer, susceptibility to, 1} [OMIM 610290]
—
GALNT2
ClinEX Pro
Congenital disorder of glycosylation, type IIt [OMIM 602274]
—
GALNT3
ClinEX Pro
Tumoral calcinosis, hyperphosphatemic, familial, 1 [OMIM 601756]
—
GAN
ClinEX Pro
Giant axonal neuropathy-1 [OMIM 605379]
—
GANAB
ClinEX Pro
Polycystic kidney disease 3 [OMIM 104160]
—
GARS1
ClinEX Pro
Charcot-Marie-Tooth disease, type 2D; Neuronopathy, distal hereditary motor, type VA; Spinal muscular atrophy, infantile, James type [OMIM 600287]
—
GAS2L2
ClinEX Pro
?Ciliary dyskinesia, primary, 41 [OMIM 611398]
—
GAS8
ClinEX Pro
Ciliary dyskinesia, primary, 33 [OMIM 605178]
—
GATA3
ClinEX Pro
Hypoparathyroidism, sensorineural deafness, and renal dysplasia [OMIM 131320]
—
GATA5
ClinEX Pro
Congenital heart defects, multiple types, 5 [OMIM 611496]
—
GATAD2B
ClinEX Pro
GAND syndrome [OMIM 614998]
—
GATB
ClinEX Pro
?Combined oxidative phosphorylation deficiency 41 [OMIM 603645]
—
GATC
ClinEX Pro
Combined oxidative phosphorylation deficiency 42 [OMIM 617210]
—
GBA1
ClinEX Pro
{Lewy body dementia, susceptibility to}
—
GBA2
ClinEX Pro
Spastic paraplegia 46, autosomal recessive [OMIM 609471]
—
GBE1
ClinEX Pro
Glycogen storage disease IV; Polyglucosan body disease, adult form [OMIM 607839]
—
GCLC
ClinEX Pro
{Myocardial infarction, susceptibility to}; Hemolytic anemia due to gamma- glutamylcysteine synthetase deficiency [OMIM 606857]
—
GCLM
ClinEX Pro
{Myocardial infarction, susceptibility to} [OMIM 601176]
—
GCM2
ClinEX Pro
Hyperparathyroidism 4; Hypoparathyroidism, familial isolated 2 [OMIM 603716]
—
GCNA
ClinEX Pro
Spermatogenic failure, X-linked, 4 [OMIM 300369]
—
GCNT2
ClinEX Pro
[Blood group, Ii]; Adult i phenotype without cataract; Cataract 13 with adult i phenotype [OMIM 600429]
—
GCSH
ClinEX Pro
?Glycine encephalopathy [OMIM 238330]
—
GDAP1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis; Charcot-Marie-Tooth disease, recessive intermediate, A; Charcot-Marie-Tooth disease, type 4A [OMIM 606598]
—
GDAP2
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 27 [OMIM 618128]
—
GDF1
ClinEX Pro
Congenital heart defects, multiple types, 6; Right atrial isomerism (Ivemark) [OMIM 602880]
—
GDF11
ClinEX Pro
?Vertebral hypersegmentation and orofacial anomalies [OMIM 603936]
—
GDF2
ClinEX Pro
Telangiectasia, hereditary hemorrhagic, type 5 [OMIM 605120]
—
GDF3
ClinEX Pro
Klippel-Feil syndrome 3, autosomal dominant; Microphthalmia with coloboma 6; Microphthalmia, isolated 7 [OMIM 606522]
—
GDF5
ClinEX Pro
?Acromesomelic dysplasia, Hunter-Thompson type; {Osteoarthritis- 5}; Brachydactyly, type A1, C; Brachydactyly, type A2; Brachydactyly, type C; Chondrodysplasia, Grebe type; Du Pan syndrome; Multiple synostoses syndrome 2; Symphalangism, proximal, 1B [OMIM 601146]
—
GDF6
ClinEX Pro
Klippel-Feil syndrome 1, autosomal dominant; Leber congenital amaurosis 17; Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4; Multiple synostoses syndrome 4 [OMIM 601147]
—
GDF9
ClinEX Pro
?Premature ovarian failure 14 [OMIM 601918]
—
GDI1
ClinEX Pro
Mental retardation, X-linked 41 [OMIM 300104]
—
GDNF
ClinEX Pro
{Hirschsprung disease, susceptibility to, 3}; {Pheochromocytoma, modifier of}; Central hypoventilation syndrome [OMIM 600837]
—
GEMIN4
ClinEX Pro
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities [OMIM 606969]
—
GEMIN5
ClinEX Pro
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunctio [OMIM 607005]
—
GFAP
ClinEX Pro
Alexander disease [OMIM 137780]
—
GFER
ClinEX Pro
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay [OMIM 600924]
—
GFI1
ClinEX Pro
?Neutropenia, nonimmune chronic idiopathic, of adults; Neutropenia, severe congenital 2, autosomal dominant [OMIM 600871]
—
GFI1B
ClinEX Pro
Bleeding disorder, platelet-type, 17 [OMIM 604383]
—
GFM1
ClinEX Pro
Combined oxidative phosphorylation deficiency 1 [OMIM 606639]
—
GFM2
ClinEX Pro
Combined oxidative phosphorylation deficiency 39 [OMIM 606544]
—
GGCX
ClinEX Pro
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; Vitamin K-dependent clotting factors, combined deficiency of, 1 [OMIM 137167]
—
GGN
ClinEX Pro
Spermatogenic failure 69 [OMIM 609966]
—
GGPS1
ClinEX Pro
uscular dystrophy, congenital hearing loss, and ovarian insufficiency syndro [OMIM 606982M]
—
GGT1
ClinEX Pro
?Glutathioninuria [OMIM 612346]
—
GHRH
ClinEX Pro
?Isolated growth hormone deficiency due to defect in GHRF; Gigantism due to GHRF hypersecretion [OMIM 139190]
—
GHRL
ClinEX Pro
{Obesity, susceptibility to} [OMIM 605353]
—
GHSR
ClinEX Pro
Growth hormone deficiency, isolated partial [OMIM 601898]
—
GIGYF2
ClinEX Pro
{Parkinson disease 11} [OMIM 612003]
—
GIMAP5
ClinEX Pro
Portal hypertension, noncirrhotic, 2 [OMIM 608086]
—
GINS1
ClinEX Pro
Immunodeficiency 55 [OMIM 610608]
—
GIPC1
ClinEX Pro
Oculopharyngodistal myopathy 2 [OMIM 605072]
—
GIPC3
ClinEX Pro
Deafness, autosomal recessive 15 [OMIM 608792]
—
GJA3
ClinEX Pro
Cataract 14, multiple types [OMIM 121015]
—
GJA8
ClinEX Pro
Cataract 1, multiple types [OMIM 600897]
—
GJB1
ClinEX Pro
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 [OMIM 304040]
—
GJB4
ClinEX Pro
Erythrokeratodermia variabilis et progressiva 2 [OMIM 605425]
—
GJC2
ClinEX Pro
Leukodystrophy, hypomyelinating, 2; Lymphatic malformation 3; Spastic paraplegia 44, autosomal recessive [OMIM 608803]
—
GK
ClinEX Pro
Glycerol kinase deficiency [OMIM 300474]
—
GLCCI1
ClinEX Pro
{Glucocorticoid therapy, response to} [OMIM 614283]
—
GLDC
ClinEX Pro
Glycine encephalopathy [OMIM 238300]
—
GLDN
ClinEX Pro
Lethal congenital contracture syndrome 11 [OMIM 608603]
—
GLE1
ClinEX Pro
Congenital arthrogryposis with anterior horn cell disease; Lethal congenital contracture syndrome 1 [OMIM 603371]
—
GLI1
ClinEX Pro
Polydactyly, postaxial, type A8; Polydactyly, preaxial I [OMIM 165220]
—
GLI2
ClinEX Pro
Culler-Jones syndrome; Holoprosencephaly 9 [OMIM 165230]
—
GLI3
ClinEX Pro
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Polydactyly, preaxial, type IV [OMIM 165240]
—
GLMN
ClinEX Pro
Glomuvenous malformations [OMIM 601749]
—
GRIA1
ClinEX Pro
Intellectual developmental disorder, autosomal dominant 67 [OMIM 138248]
—
GLRA2
ClinEX Pro
Intellectual developmental disorder, X-linked, syndromic, Pilorge type [OMIM 305990]
—
GLRX5
ClinEX Pro
Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia [OMIM 609588]
—
GLS
ClinEX Pro
?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development; Developmental and epileptic encephalopathy 71; Global developmental delay, progressive ataxia, and elevated glutamine [OMIM 138280]
—
GLUD2
ClinEX Pro
{Parkinson disease, age of onset, modifier} [OMIM 300144]
—
GLUL
ClinEX Pro
Glutamine deficiency, congenital [OMIM 138290]
—
GLYCTK
ClinEX Pro
D-glyceric aciduria [OMIM 610516]
—
GM2A
ClinEX Pro
GM2-gangliosidosis, AB variant [OMIM 613109]
—
GMNN
ClinEX Pro
Meier-Gorlin syndrome 6 [OMIM 602842]
—
GMPPA
ClinEX Pro
Alacrima, achalasia, and mental retardation syndrome [OMIM 615495]
—
GMPPB
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 14 [OMIM 615320]
—
GNAI2
ClinEX Pro
Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic [OMIM 139360]
—
GNAI3
ClinEX Pro
Auriculocondylar syndrome 1 [OMIM 139370]
—
GNAL
ClinEX Pro
Dystonia 25 [OMIM 139312]
—
GNAO1
ClinEX Pro
Developmental and epileptic encephalopathy 17; Neurodevelopmental disorder with involuntary movements [OMIM 139311]
—
GNAS-AS1
ClinEX Pro
Pseudohypoparathyroidism, type IB [OMIM 610540]
—
GNAT1
ClinEX Pro
Night blindness, congenital stationary, autosomal dominant 3; Night blindness, congenital stationary, type 1G [OMIM 139330]
—
GNAT2
ClinEX Pro
Achromatopsia 4 [OMIM 139340]
—
GNB2
ClinEX Pro
?Sick sinus syndrome 4 [OMIM 139390]
—
GNB3
ClinEX Pro
{Hypertension, essential, susceptibility to}; Night blindness, congenital stationary, type 1H [OMIM 139130]
—
GNB4
ClinEX Pro
Charcot-Marie-Tooth disease, dominant intermediate F [OMIM 610863]
—
GNB5
ClinEX Pro
Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia [OMIM 604447]
—
GNMT
ClinEX Pro
Glycine N-methyltransferase deficiency [OMIM 606628]
—
GNPAT
ClinEX Pro
Rhizomelic chondrodysplasia punctata, type 2 [OMIM 602744]
—
GNPNAT1
ClinEX Pro
?Rhizomelic dysplasia, Ain-Naz type [OMIM 616510]
—
GNPTAB
ClinEX Pro
Mucolipidosis II alpha/beta; Mucolipidosis III alpha/beta [OMIM 607840]
—
GNPTG
ClinEX Pro
Mucolipidosis III gamma [OMIM 607838]
—
GNRH1
ClinEX Pro
?Hypogonadotropic hypogonadism 12 with or without anosmia [OMIM 152760]
—
GNRHR
ClinEX Pro
Hypogonadotropic hypogonadism 7 without anosmia [OMIM 138850]
—
GNS
ClinEX Pro
Mucopolysaccharidosis type IIID [OMIM 607664]
—
GON7
ClinEX Pro
Galloway-Mowat syndrome 9 [OMIM 617436]
—
GORAB
ClinEX Pro
Geroderma osteodysplasticum [OMIM 607983]
—
GOSR2
ClinEX Pro
Epilepsy, progressive myoclonic 6 [OMIM 604027]
—
GOT1
ClinEX Pro
Aspartate aminotransferase, serum level of, QTL1 [OMIM 138180]
—
GP1BA
ClinEX Pro
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}; Bernard- Soulier syndrome, type A1 (recessive); Bernard-Soulier syndrome, type A2 (dominant); von Willebrand disease, platelet-type [OMIM 606672]
—
H3-3A
ClinEX Pro
Bryant-Li-Bhoj neurodevelopmental syndrome 1 [OMIM 601128]
—
H3-3B
ClinEX Pro
Bryant-Li-Bhoj neurodevelopmental syndrome 2 [OMIM 601058]
—
H4C3
ClinEX Pro
Tessadori-van Haaften neurodevelopmental syndrome 1 [OMIM 602827]
—
GP1BB
ClinEX Pro
Bernard-Soulier syndrome, type B; Giant platelet disorder, isolated [OMIM 138720]
—
GP6
ClinEX Pro
Bleeding disorder, platelet-type, 11 [OMIM 605546]
—
GP9
ClinEX Pro
Bernard-Soulier syndrome, type C [OMIM 173515]
—
GPAA1
ClinEX Pro
Glycosylphosphatidylinositol biosynthesis defect 15 [OMIM 603048]
—
GPC3
ClinEX Pro
Simpson-Golabi-Behmel syndrome, type 1; Wilms tumor, somatic [OMIM 300037]
—
GPC4
ClinEX Pro
Keipert syndrome [OMIM 300168]
—
GPC6
ClinEX Pro
Omodysplasia 1 [OMIM 604404]
—
GPD1
ClinEX Pro
Hypertriglyceridemia, transient infantile [OMIM 138420]
—
GPD2
ClinEX Pro
{Type 2 diabetes mellitus, susceptibility to} [OMIM 138430]
—
GPI
ClinEX Pro
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [OMIM 172400]
—
GPNMB
ClinEX Pro
Amyloidosis, primary localized cutaneous, 3 [OMIM 604368]
—
GPR101
ClinEX Pro
Pituitary adenoma 2, GH-secreting [OMIM 300393]
—
GPR143
ClinEX Pro
Nystagmus 6, congenital, X-linked; Ocular albinism, type I, Nettleship-Falls type [OMIM 300808]
—
GPR179
ClinEX Pro
Night blindness, congenital stationary (complete), 1E, autosomal recessive [OMIM 614515]
—
GPR68
ClinEX Pro
Amelogenesis imperfecta, hypomaturation type, IIA6 [OMIM 601404]
—
GPR88
ClinEX Pro
?Chorea, childhood-onset, with psychomotor retardation [OMIM 607468]
—
GPRASP2
ClinEX Pro
?Deafness, X-linked 7 [OMIM 300969]
—
GPSM2
ClinEX Pro
Chudley-McCullough syndrome [OMIM 609245]
—
GPT2
ClinEX Pro
Neurodevelopmental disorder with microcephaly and spastic paraplegia [OMIM 138210]
—
GPX1
ClinEX Pro
Hemolytic anemia due to glutathione peroxidase deficiency [OMIM 138320]
—
GPX4
ClinEX Pro
Spondylometaphyseal dysplasia, Sedaghatian type [OMIM 138322]
—
HCN2
ClinEX Pro
{Epilepsy, idiopathic generalized, susceptibility to, 17} [OMIM 602781]
—
GRAP
ClinEX Pro
Deafness, autosomal recessive 114 [OMIM 604330]
—
GREB1L
ClinEX Pro
Deafness, autosomal dominant 80; Renal hypodysplasia/aplasia 3 [OMIM 617782]
—
HDAC4
ClinEX Pro
Neurodevelopmental disorder with central hypotonia and dysmorphic facies [OMIM 605314]
—
GREM2
ClinEX Pro
Tooth agenesis, selective, 9 [OMIM 608832]
—
GRHL2
ClinEX Pro
Corneal dystrophy, posterior polymorphous, 4; Deafness, autosomal dominant 28; Ectodermal dysplasia/short stature syndrome [OMIM 608576]
—
GRHL3
ClinEX Pro
Van der Woude syndrome 2 [OMIM 608317]
—
GRHPR
ClinEX Pro
Hyperoxaluria, primary, type II [OMIM 604296]
—
GRIA2
ClinEX Pro
Neurodevelopmental disorder with language impairment and behavioral abnormalities [OMIM 138247]
—
GRIA3
ClinEX Pro
Intellectual developmental disorder, X-linked, syndromic, Wu type [OMIM 305915]
—
GRIA4
ClinEX Pro
Neurodevelopmental disorder with or without seizures and gait abnormalities [OMIM 138246]
—
GRID2
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 18 [OMIM 602368]
—
GRIK2
ClinEX Pro
Mental retardation, autosomal recessive, 6 [OMIM 138244]
—
GRIN1
ClinEX Pro
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive [OMIM 138249]
—
GRIN2A
ClinEX Pro
Epilepsy, focal, with speech disorder and with or without mental retardation [OMIM 138253]
—
GRIN2B
ClinEX Pro
Developmental and epileptic encephalopathy 27; Intellectual developmental disorder, autosomal dominant 6, with or without seizures [OMIM 138252]
—
GRIN2D
ClinEX Pro
Developmental and epileptic encephalopathy 46 [OMIM 602717]
—
GRIP1
ClinEX Pro
Fraser syndrome 3 [OMIM 604597]
—
GRK1
ClinEX Pro
Oguchi disease-2 [OMIM 180381]
—
GRM1
ClinEX Pro
Spinocerebellar ataxia 44; Spinocerebellar ataxia, autosomal recessive 13 [OMIM 604473]
—
GRM6
ClinEX Pro
Night blindness, congenital stationary (complete), 1B, autosomal recessive [OMIM 604096]
—
GRM7
ClinEX Pro
Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities [OMIM 604101]
—
GRN
ClinEX Pro
Aphasia, primary progressive; Ceroid lipofuscinosis, neuronal, 11; Frontotemporal lobar degeneration with ubiquitin-positive inclusions [OMIM 138945]
—
GRXCR1
ClinEX Pro
Deafness, autosomal recessive 25 [OMIM 613283]
—
GRXCR2
ClinEX Pro
?Deafness, autosomal recessive 101 [OMIM 615762]
—
GSC
ClinEX Pro
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities [OMIM 138890]
—
GSDME
ClinEX Pro
Deafness, autosomal dominant 5 [OMIM 608798]
—
GSN
ClinEX Pro
Amyloidosis, Finnish type [OMIM 137350]
—
GSR
ClinEX Pro
Hemolytic anemia due to glutathione reductase deficiency [OMIM 138300]
—
GSTZ1
ClinEX Pro
[Maleylacetoacetate isomerase deficiency] [OMIM 603758]
—
GSX2
ClinEX Pro
Diencephalic-mesencephalic junction dysplasia syndrome 2 [OMIM 616253]
—
GTF2E2
ClinEX Pro
Trichothiodystrophy 6, nonphotosensitive [OMIM 189964]
—
GTF2H5
ClinEX Pro
Trichothiodystrophy 3, photosensitive [OMIM 608780]
—
GTPBP2
ClinEX Pro
Jaberi-Elahi syndrome [OMIM 607434]
—
GTPBP3
ClinEX Pro
Combined oxidative phosphorylation deficiency 23 [OMIM 608536]
—
GUCA1A
ClinEX Pro
Cone dystrophy-3; Cone-rod dystrophy 14 [OMIM 600364]
—
GUCA1B
ClinEX Pro
Retinitis pigmentosa 48 [OMIM 602275]
—
GUCY1A1
ClinEX Pro
Moyamoya 6 with achalasia [OMIM 139396]
—
GUCY2C
ClinEX Pro
Diarrhea 6; Meconium ileus [OMIM 601330]
—
GUCY2D
ClinEX Pro
?Choroidal dystrophy, central areolar 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type 1I [OMIM 600179]
—
GUF1
ClinEX Pro
?Developmental and epileptic encephalopathy 40 [OMIM 617064]
—
GULOP
ClinEX Pro
Scurvy [OMIM 240400]
—
GYG1
ClinEX Pro
?Glycogen storage disease XV; Polyglucosan body myopathy 2 [OMIM 603942]
—
GYPA
ClinEX Pro
[Blood group, MNSs system]; {Malaria, resistance to} [OMIM 617922]
—
GYPB
ClinEX Pro
[Blood group, Ss]; {Malaria, resistance to} [OMIM 617923]
—
GYPC
ClinEX Pro
[Blood group, Gerbich]; {Malaria, resistance to} [OMIM 110750]
—
GYS1
ClinEX Pro
Glycogen storage disease 0, muscle [OMIM 138570]
—
GYS2
ClinEX Pro
Glycogen storage disease 0, liver [OMIM 138571]
—
GZF1
ClinEX Pro
Joint laxity, short stature, and myopia [OMIM 613842]
—
H1-4
ClinEX Pro
Rahman syndrome [OMIM 142220]
—
H4C11
ClinEX Pro
?Tessadori-van Haaften neurodevelopmental syndrome 2 [OMIM 602826]
—
H6PD
ClinEX Pro
Cortisone reductase deficiency 1 [OMIM 138090]
—
HAAO
ClinEX Pro
Vertebral, cardiac, renal, and limb defects syndrome 1 [OMIM 604521]
—
HABP2
ClinEX Pro
{?Thyroid cancer, nonmedullary, 5}; {Venous thromboembolism, susceptibility to} [OMIM 603924]
—
HACE1
ClinEX Pro
Spastic paraplegia and psychomotor retardation with or without seizures [OMIM 610876]
—
HAGH
ClinEX Pro
[Glyoxalase II deficiency] [OMIM 138760]
—
HAL
ClinEX Pro
[Histidinemia] [OMIM 609457]
—
HAMP
ClinEX Pro
Hemochromatosis, type 2B [OMIM 606464]
—
HARS1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2W; Usher syndrome type 3B [OMIM 142810]
—
HARS2
ClinEX Pro
Perrault syndrome 2 [OMIM 600783]
—
HAVCR2
ClinEX Pro
T-cell lymphoma, subcutaneous panniculitis-like [OMIM 606652]
—
HBD
ClinEX Pro
Thalassemia due to Hb Lepore; Thalassemia, delta- [OMIM 142000]
—
HBEGF
ClinEX Pro
{Diphtheria, susceptibility to} [OMIM 126150]
—
HBG1
ClinEX Pro
Fetal hemoglobin quantitative trait locus 1 [OMIM 142200]
—
HBG2
ClinEX Pro
Cyanosis, transient neonatal; Fetal hemoglobin quantitative trait locus 1 [OMIM 142250]
—
HCCS
ClinEX Pro
Linear skin defects with multiple congenital anomalies 1 [OMIM 300056]
—
HCN1
ClinEX Pro
Developmental and epileptic encephalopathy 24; Generalized epilepsy with febrile seizures plus, type 10 [OMIM 602780]
—
HCRT
ClinEX Pro
?Narcolepsy 1 [OMIM 602358]
—
HDAC6
ClinEX Pro
?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia [OMIM 300272]
—
HDAC8
ClinEX Pro
Cornelia de Lange syndrome 5 [OMIM 300269]
—
HS3ST6
ClinEX Pro
?Angioedema, hereditary, 8 [OMIM 619210]
—
HDC
ClinEX Pro
{Gilles de la Tourette syndrome, susceptibility to} [OMIM 142704]
—
HECW2
ClinEX Pro
Neurodevelopmental disorder with hypotonia, seizures, and absent language [OMIM 617245]
—
HELLS
ClinEX Pro
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 [OMIM 603946]
—
HEPACAM
ClinEX Pro
Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation [OMIM 611642]
—
HEPHL1
ClinEX Pro
?Abnormal hair, joint laxity, and developmental delay [OMIM 618455]
—
HERC1
ClinEX Pro
Macrocephaly, dysmorphic facies, and psychomotor retardation [OMIM 605109]
—
HERC2
ClinEX Pro
[Skin/hair/eye pigmentation 1, blond/brown hair]; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Mental retardation, autosomal recessive 38 [OMIM 605837]
—
HES7
ClinEX Pro
Spondylocostal dysostosis 4, autosomal recessive [OMIM 608059]
—
HFM1
ClinEX Pro
Premature ovarian failure 9 [OMIM 615684]
—
HGD
ClinEX Pro
Alkaptonuria [OMIM 607474]
—
HGF
ClinEX Pro
Deafness, autosomal recessive 39 [OMIM 142409]
—
HGSNAT
ClinEX Pro
Mucopolysaccharidosis type IIIC (Sanfilippo C); Retinitis pigmentosa 73 [OMIM 610453]
—
HHAT
ClinEX Pro
Nivelon-Nivelon-Mabille syndrome [OMIM 605743]
—
HIBCH
ClinEX Pro
3-hydroxyisobutryl-CoA hydrolase deficiency [OMIM 610690]
—
HIKESHI
ClinEX Pro
Leukodystrophy, hypomyelinating, 13 [OMIM 614908]
—
HINT1
ClinEX Pro
Neuromyotonia and axonal neuropathy, autosomal recessive [OMIM 601314]
—
HIVEP2
ClinEX Pro
Mental retardation, autosomal dominant 43 [OMIM 143054]
—
HJV
ClinEX Pro
Hemochromatosis, type 2A [OMIM 608374]
—
HKDC1
ClinEX Pro
Retinitis pigmentosa 92 [OMIM 617221]
—
HLA-B
ClinEX Pro
{Abacavir hypersensitivity, susceptibility to}; {Drug-induced liver injury due to flucloxacillin}; {Spondyloarthropathy, susceptibility to, 1}; {Stevens- Johnson syndrome, susceptibility to}; {Synovitis, chronic, susceptibility to}; {Toxic epidermal necrolysis, susceptibility to} [OMIM 142830]
—
HLA-C
ClinEX Pro
{HIV-1 viremia, susceptibility to}; {Psoriasis susceptibility 1} [OMIM 142840]
—
HLA-DPB1
ClinEX Pro
{Beryllium disease, chronic, susceptibility to} [OMIM 142858]
—
HLA-DQA1
ClinEX Pro
{Celiac disease, susceptibility to} [OMIM 146880]
—
HLA-DQB1
ClinEX Pro
{Celiac disease, susceptibility to}; {Creutzfeldt-Jakob disease, variant, resistance to}; {Multiple sclerosis, susceptibility to, 1} [OMIM 604305]
—
HLA-DRB1
ClinEX Pro
{Multiple sclerosis, susceptibility to, 1}; {Sarcoidosis, susceptibility to, 1} [OMIM 142857]
—
HMBS
ClinEX Pro
Porphyria, acute intermittent; Porphyria, acute intermittent, nonerythroid variant [OMIM 609806]
—
HMCN1
ClinEX Pro
{Macular degeneration, age-related, 1} [OMIM 608548]
—
HMGA1
ClinEX Pro
{Type 2 diabetes mellitus, susceptibility to} [OMIM 600701]
—
HMGB3
ClinEX Pro
?Microphthalmia, syndromic 13 [OMIM 300193]
—
HMGCR
ClinEX Pro
[Low density lipoprotein cholesterol level QTL 3]; [Statins, attenuated cholesterol lowering by] [OMIM 142910]
—
HMGCS2
ClinEX Pro
HMG-CoA synthase-2 deficiency [OMIM 600234]
—
HMMR
ClinEX Pro
{Breast cancer, susceptibility to} [OMIM 600936]
—
HMOX1
ClinEX Pro
{Pulmonary disease, chronic obstructive, susceptibility to}; Heme oxygenase-1 deficiency [OMIM 141250]
—
HMX1
ClinEX Pro
Oculoauricular syndrome [OMIM 142992]
—
IFNAR1
ClinEX Pro
Immunodeficiency 106, susceptibility to viral infections [OMIM 107450]
—
HNF1B
ClinEX Pro
{Renal cell carcinoma}; Renal cysts and diabetes syndrome; Type 2 diabetes mellitus [OMIM 189907]
—
HNMT
ClinEX Pro
{Asthma, susceptibility to}; Mental retardation, autosomal recessive 51 [OMIM 605238]
—
HNRNPA1
ClinEX Pro
?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3; Amyotrophic lateral sclerosis 20 [OMIM 164017]
—
HNRNPDL
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal dominant 3 [OMIM 607137]
—
HNRNPH2
ClinEX Pro
Mental retardation, X-linked, syndromic, Bain type [OMIM 300610]
—
HNRNPU
ClinEX Pro
Developmental and epileptic encephalopathy 54 [OMIM 602869]
—
HOMER2
ClinEX Pro
?Deafness, autosomal dominant 68 [OMIM 604799]
—
HOXA1
ClinEX Pro
Athabaskan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome [OMIM 142955]
—
HOXA11
ClinEX Pro
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 [OMIM 142958]
—
HOXA13
ClinEX Pro
?Guttmacher syndrome; Hand-foot-uterus syndrome [OMIM 142959]
—
HOXA2
ClinEX Pro
?Microtia, hearing impairment, and cleft palate (AR); Microtia with or without hearing impairment (AD) [OMIM 604685]
—
HOXB1
ClinEX Pro
Facial paresis, hereditary congenital, 3 [OMIM 142968]
—
HOXB13
ClinEX Pro
{Prostate cancer, hereditary, 9} [OMIM 604607]
—
HOXC13
ClinEX Pro
Ectodermal dysplasia 9, hair/nail type [OMIM 142976]
—
HOXD10
ClinEX Pro
Charcot-Marie-Tooth disease, foot deformity of; Vertical talus, congenital [OMIM 142984]
—
HOXD13
ClinEX Pro
?Brachydactyly-syndactyly syndrome; Brachydactyly, type D; Brachydactyly, type E; Syndactyly, type V; Synpolydactyly 1 [OMIM 142989]
—
HP
ClinEX Pro
[Anhaptoglobinemia]; [Hypohaptoglobinemia] [OMIM 140100]
—
HPCA
ClinEX Pro
Dystonia 2, torsion, autosomal recessive [OMIM 142622]
—
HPDL
ClinEX Pro
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities; Spastic paraplegia 83, autosomal recessive [OMIM 618994]
—
HPGD
ClinEX Pro
?Digital clubbing, isolated congenital; Cranioosteoarthropathy; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 [OMIM 601688]
—
HPRT1
ClinEX Pro
Hyperuricemia, HRPT-related; Lesch-Nyhan syndrome [OMIM 308000]
—
HPS1
ClinEX Pro
Hermansky-Pudlak syndrome 1 [OMIM 604982]
—
HPS3
ClinEX Pro
Hermansky-Pudlak syndrome 3 [OMIM 606118]
—
HPS4
ClinEX Pro
Hermansky-Pudlak syndrome 4 [OMIM 606682]
—
HPS5
ClinEX Pro
Hermansky-Pudlak syndrome 5 [OMIM 607521]
—
HPS6
ClinEX Pro
Hermansky-Pudlak syndrome 6 [OMIM 607522]
—
HPSE2
ClinEX Pro
Urofacial syndrome 1 [OMIM 613469]
—
HR
ClinEX Pro
Alopecia universalis; Atrichia with papular lesions [OMIM 602302]
—
IKZF3
ClinEX Pro
?Immunodeficiency 84 [OMIM 606221]
—
HRG
ClinEX Pro
Thrombophilia due to HRG deficiency [OMIM 142640]
—
HRURF
ClinEX Pro
Hypotrichosis 4 [OMIM 619257]
—
HS2ST1
ClinEX Pro
Neurofacioskeletal syndrome with or without renal agenesis [OMIM 604844]
—
HS6ST1
ClinEX Pro
{Hypogonadotropic hypogonadism 15 with or without anosmia} [OMIM 604846]
—
HS6ST2
ClinEX Pro
?Paganini-Miozzo syndrome [OMIM 300545]
—
HSD11B1
ClinEX Pro
Cortisone reductase deficiency 2 [OMIM 600713]
—
HSD11B2
ClinEX Pro
Apparent mineralocorticoid excess [OMIM 614232]
—
HSD17B10
ClinEX Pro
HSD10 mitochondrial disease [OMIM 300256]
—
HSD17B3
ClinEX Pro
Pseudohermaphroditism, male, with gynecomastia [OMIM 605573]
—
HSD17B4
ClinEX Pro
D-bifunctional protein deficiency; Perrault syndrome 1 [OMIM 601860]
—
HSD3B7
ClinEX Pro
Bile acid synthesis defect, congenital, 1 [OMIM 607764]
—
HSF2BP
ClinEX Pro
Premature ovarian failure 19 [OMIM 604554]
—
HSF4
ClinEX Pro
Cataract 5, multiple types [OMIM 602438]
—
HSPA9
ClinEX Pro
Anemia, sideroblastic, 4; Even-plus syndrome [OMIM 600548]
—
HSPB1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2F; Neuronopathy, distal hereditary motor, type IIB [OMIM 602195]
—
HSPB3
ClinEX Pro
?Neuronopathy, distal hereditary motor, type IIC [OMIM 604624]
—
HSPD1
ClinEX Pro
Leukodystrophy, hypomyelinating, 4; Spastic paraplegia 13, autosomal dominant [OMIM 118190]
—
HSPG2
ClinEX Pro
Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1 [OMIM 142461]
—
HTR1A
ClinEX Pro
Periodic fever, menstrual cycle dependent [OMIM 109760]
—
HTR2A
ClinEX Pro
{Alcohol dependence, susceptibility to}; {Anorexia nervosa, susceptibility to}; {Major depressive disorder, response to citalopram therapy in}; {Obsessive-compulsive disorder, susceptibility to}; {Schizophrenia, susceptibility to}; {Seasonal affective disorder, susceptibility to} [OMIM 182135]
—
HTRA1
ClinEX Pro
{Macular degeneration, age-related, 7}; {Macular degeneration, age- related, neovascular type}; CARASIL syndrome; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [OMIM 602194]
—
HTRA2
ClinEX Pro
{Parkinson disease 13}; 3-methylglutaconic aciduria, type VIII [OMIM 606441]
—
HTT
ClinEX Pro
Huntington disease; Lopes-Maciel-Rodan syndrome [OMIM 613004]
—
HUWE1
ClinEX Pro
Mental retardation, X-linked syndromic, Turner type [OMIM 300697]
—
HYAL1
ClinEX Pro
?Mucopolysaccharidosis type IX [OMIM 607071]
—
HYDIN
ClinEX Pro
Ciliary dyskinesia, primary, 5 [OMIM 610812]
—
HYLS1
ClinEX Pro
Hydrolethalus syndrome [OMIM 610693]
—
HYOU1
ClinEX Pro
?Immunodeficiency 59 and hypoglycemia [OMIM 601746]
—
IARS1
ClinEX Pro
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy [OMIM 600709]
—
IARS2
ClinEX Pro
?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia [OMIM 612801]
—
IBA57
ClinEX Pro
?Spastic paraplegia 74, autosomal recessive; Multiple mitochondrial dysfunctions syndrome 3 [OMIM 615316]
—
ICAM1
ClinEX Pro
{Malaria, cerebral, susceptibility to} [OMIM 147840]
—
ICAM4
ClinEX Pro
[Blood group, Landsteiner-Wiener] [OMIM 614088]
—
ICOS
ClinEX Pro
Immunodeficiency, common variable, 1 [OMIM 604558]
—
IDH3A
ClinEX Pro
Retinitis pigmentosa 90 [OMIM 601149]
—
IDH3B
ClinEX Pro
Retinitis pigmentosa 46 [OMIM 604526]
—
IER3IP1
ClinEX Pro
Microcephaly, epilepsy, and diabetes syndrome [OMIM 609382]
—
IFIH1
ClinEX Pro
Aicardi-Goutieres syndrome 7; Singleton-Merten syndrome 1 [OMIM 606951]
—
IFITM3
ClinEX Pro
{Influenza, severe, susceptibility to} [OMIM 605579]
—
IFITM5
ClinEX Pro
Osteogenesis imperfecta, type V [OMIM 614757]
—
IFNA1
ClinEX Pro
Interferon, alpha, deficiency [OMIM 147660]
—
IFNAR2
ClinEX Pro
?Immunodeficiency 45; {Hepatitis B virus, susceptibility to} [OMIM 602376]
—
IFNG
ClinEX Pro
?Immunodeficiency 69, mycobacteriosis; {AIDS, rapid progression to}; {Aplastic anemia}; {Hepatitis C virus, response to therapy of}; {TSC2 angiomyolipomas, renal, modifier of}; {Tuberculosis, protection against} [OMIM 147570]
—
IFNGR1
ClinEX Pro
{H. pylori infection, susceptibility to}; {Hepatitis B virus infection, susceptibility to}; {Tuberculosis infection, protection against}; {Tuberculosis, susceptibility to}; Immunodeficiency 27A, mycobacteriosis, AR; Immunodeficiency 27B, mycobacteriosis, AD [OMIM 107470]
—
IFNGR2
ClinEX Pro
Immunodeficiency 28, mycobacteriosis [OMIM 147569]
—
IFNL3
ClinEX Pro
{Hepatitis C virus infection, response to therapy of} [OMIM 607402]
—
IFT122
ClinEX Pro
Cranioectodermal dysplasia 1 [OMIM 606045]
—
IFT140
ClinEX Pro
Retinitis pigmentosa 80; Short-rib thoracic dysplasia 9 with or without polydactyly [OMIM 614620]
—
IFT172
ClinEX Pro
Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydactyly [OMIM 607386]
—
IFT27
ClinEX Pro
?Bardet-Biedl syndrome 19 [OMIM 615870]
—
IFT43
ClinEX Pro
?Cranioectodermal dysplasia 3; ?Retinitis pigmentosa 81; Short-rib thoracic dysplasia 18 with polydactyly [OMIM 614068]
—
IFT52
ClinEX Pro
Short-rib thoracic dysplasia 16 with or without polydactyly [OMIM 617094]
—
IFT57
ClinEX Pro
?Orofaciodigital syndrome XVIII [OMIM 606621]
—
IFT74
ClinEX Pro
?Bardet-Biedl syndrome 20 [OMIM 608040]
—
IFT80
ClinEX Pro
Short-rib thoracic dysplasia 2 with or without polydactyly [OMIM 611177]
—
IFT81
ClinEX Pro
Short-rib thoracic dysplasia 19 with or without polydactyly [OMIM 605489]
—
IGBP1
ClinEX Pro
Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia [OMIM 300139]
—
IGF1
ClinEX Pro
Growth retardation with deafness and mental retardation due to IGF1 deficiency [OMIM 147440]
—
IGF1R
ClinEX Pro
Insulin-like growth factor I, resistance to [OMIM 147370]
—
IGF2
ClinEX Pro
Silver-Russell syndrome 3 [OMIM 147470]
—
IGF2BP2
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent, susceptibility to} [OMIM 608289]
—
IGF2R
ClinEX Pro
Hepatocellular carcinoma, somatic [OMIM 147280]
—
IGFALS
ClinEX Pro
Acid-labile subunit, deficiency of [OMIM 601489]
—
IGFBP7
ClinEX Pro
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis [OMIM 602867]
—
IGHG2
ClinEX Pro
IgG2 deficiency, selective [OMIM 147110]
—
IGHMBP2
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2S; Neuronopathy, distal hereditary motor, type VI [OMIM 600502]
—
IGKC
ClinEX Pro
Kappa light chain deficiency [OMIM 147200]
—
IGSF1
ClinEX Pro
Hypothyroidism, central, and testicular enlargement [OMIM 300137]
—
IGSF3
ClinEX Pro
?Lacrimal duct defect [OMIM 603491]
—
IHH
ClinEX Pro
Acrocapitofemoral dysplasia; Brachydactyly, type A1 [OMIM 600726]
—
IKBKB
ClinEX Pro
Immunodeficiency 15A; Immunodeficiency 15B [OMIM 603258]
—
IKBKG
ClinEX Pro
Ectodermal dysplasia and immunodeficiency 1; Immunodeficiency 33; Incontinentia pigmenti [OMIM 300248]
—
IKZF5
ClinEX Pro
Thrombocytopenia, autosomal dominant, 7 [OMIM 606238]
—
IL10
ClinEX Pro
{Graft-versus-host disease, protection against}; {HIV-1, susceptibility to}; {Rheumatoid arthritis, progression of} [OMIM 124092]
—
IL11RA
ClinEX Pro
Craniosynostosis and dental anomalies [OMIM 600939]
—
IL12B
ClinEX Pro
Immunodeficiency 29, mycobacteriosis [OMIM 161561]
—
IL12RB1
ClinEX Pro
Immunodeficiency 30 [OMIM 601604]
—
IL13
ClinEX Pro
{Allergic rhinitis, susceptibility to}; {Asthma, susceptibility to} [OMIM 147683]
—
IL17F
ClinEX Pro
?Candidiasis, familial, 6, autosomal dominant [OMIM 606496]
—
IL17RA
ClinEX Pro
Immunodeficiency 51 [OMIM 605461]
—
JAG2
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal recessive 27 [OMIM 602570]
—
IL17RC
ClinEX Pro
Candidiasis, familial, 9 [OMIM 610925]
—
IL17RD
ClinEX Pro
Hypogonadotropic hypogonadism 18 with or without anosmia [OMIM 606807]
—
IL18BP
ClinEX Pro
{?Hepatitis, fulminant viral, susceptibility to} [OMIM 604113]
—
IL1B
ClinEX Pro
{Gastric cancer risk after H. pylori infection} [OMIM 147720]
—
IL1RAPL1
ClinEX Pro
Mental retardation, X-linked 21/34 [OMIM 300206]
—
IL1RN
ClinEX Pro
{Gastric cancer risk after H. pylori infection}; {Microvascular complications of diabetes 4}; Interleukin 1 receptor antagonist deficiency [OMIM 147679]
—
IL21
ClinEX Pro
?Immunodeficiency, common variable, 11 [OMIM 605384]
—
IL21R
ClinEX Pro
[IgE, elevated level of]; Immunodeficiency 56 [OMIM 605383]
—
IL23R
ClinEX Pro
{Inflammatory bowel disease 17, protection against}; {Psoriasis, protection against} [OMIM 607562]
—
IL2RA
ClinEX Pro
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}; Immunodeficiency 41 with lymphoproliferation and autoimmunity [OMIM 147730]
—
IL31RA
ClinEX Pro
?Amyloidosis, primary localized cutaneous, 2 [OMIM 609510]
—
IL36RN
ClinEX Pro
Psoriasis 14, pustular [OMIM 605507]
—
IL37
ClinEX Pro
?Inflammatory bowel disease (infantile ulcerative colitis) 31 [OMIM 605510]
—
IL4R
ClinEX Pro
{AIDS, slow progression to}; {Atopy, susceptibility to} [OMIM 147781]
—
IL6
ClinEX Pro
{Crohn disease-associated growth failure}; {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}; {Kaposi sarcoma, susceptibility to}; {Rheumatoid arthritis, systemic juvenile}; {Type 1 diabetes mellitus}; {Type 2 diabetes mellitus} [OMIM 147620]
—
IL6ST
ClinEX Pro
Hyper-IgE recurrent infection syndrome 4, autosomal recessive [OMIM 600694]
—
IL7
ClinEX Pro
{?Epidermodysplasia verruciformis, susceptibility to, 5} [OMIM 146660]
—
ILDR1
ClinEX Pro
Deafness, autosomal recessive 42 [OMIM 609739]
—
IMPA1
ClinEX Pro
Mental retardation, autosomal recessive 59 [OMIM 602064]
—
IMPDH1
ClinEX Pro
Leber congenital amaurosis 11; Retinitis pigmentosa 10 [OMIM 146690]
—
IMPDH2
ClinEX Pro
[IMPDH2 enzyme activity, variation in] [OMIM 146691]
—
IMPG1
ClinEX Pro
Macular dystrophy, vitelliform, 4 [OMIM 602870]
—
IMPG2
ClinEX Pro
Macular dystrophy, vitelliform, 5; Retinitis pigmentosa 56 [OMIM 607056]
—
KCNC2
ClinEX Pro
619913 [OMIM 176256]
—
INAVA
ClinEX Pro
{Inflammatory bowel disease 29} [OMIM 618051]
—
INF2
ClinEX Pro
Charcot-Marie-Tooth disease, dominant intermediate E; Glomerulosclerosis, focal segmental, 5 [OMIM 610982]
—
ING1
ClinEX Pro
Squamous cell carcinoma, head and neck, somatic [OMIM 601566]
—
INPP5E
ClinEX Pro
Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis [OMIM 613037]
—
INPP5K
ClinEX Pro
Muscular dystrophy, congenital, with cataracts and intellectual disability [OMIM 607875]
—
INPPL1
ClinEX Pro
Opsismodysplasia [OMIM 600829]
—
INSL3
ClinEX Pro
Cryptorchidism [OMIM 146738]
—
INSR
ClinEX Pro
Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5; Leprechaunism; Rabson-Mendenhall syndrome [OMIM 147670]
—
INTS1
ClinEX Pro
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies [OMIM 611345]
—
INTS8
ClinEX Pro
?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity [OMIM 611351]
—
KCNJ16
ClinEX Pro
Hypokalemic tubulopathy and deafness [OMIM 605722]
—
INTU
ClinEX Pro
?Orofaciodigital syndrome XVII; ?Short-rib thoracic dysplasia 20 with polydactyly [OMIM 610621]
—
INVS
ClinEX Pro
Nephronophthisis 2, infantile [OMIM 243305]
—
IPO8
ClinEX Pro
VISS syndrome [OMIM 605600]
—
IQCB1
ClinEX Pro
Senior-Loken syndrome 5 [OMIM 609237]
—
IQCE
ClinEX Pro
Polydactyly, postaxial, type A7 [OMIM 617631]
—
IQSEC1
ClinEX Pro
Intellectual developmental disorder with short stature and behavioral abnormalities [OMIM 610166]
—
IQSEC2
ClinEX Pro
Mental retardation, X-linked 1/78 [OMIM 300522]
—
IRAK3
ClinEX Pro
{Asthma susceptibility 5} [OMIM 604459]
—
IREB2
ClinEX Pro
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia [OMIM 147582]
—
KCNN2
ClinEX Pro
?Dystonia 34, myoclonic [OMIM 605879]
—
IRF1
ClinEX Pro
Gastric cancer, somatic; Myelodysplastic syndrome, preleukemic; Myelogenous leukemia, acute; Nonsmall cell lung cancer, somatic [OMIM 147575]
—
IRF2BPL
ClinEX Pro
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures [OMIM 611720]
—
IRF3
ClinEX Pro
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7} [OMIM 603734]
—
IRF5
ClinEX Pro
{Inflammatory bowel disease 14}; {Systemic lupus erythematosus, susceptibility to, 10} [OMIM 607218]
—
IRF6
ClinEX Pro
{Orofacial cleft 6}; Popliteal pterygium syndrome 1; van der Woude syndrome [OMIM 607199]
—
IRF7
ClinEX Pro
?Immunodeficiency 39 [OMIM 605047]
—
IRF8
ClinEX Pro
Immunodeficiency 32A, mycobacteriosis, autosomal dominant; Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive [OMIM 601565]
—
IRF9
ClinEX Pro
Immunodeficiency 65, susceptibility to viral infections [OMIM 147574]
—
IRGM
ClinEX Pro
{Inflammatory bowel disease (Crohn disease) 19}; {Mycobacterium tuberculosis, protection against} [OMIM 608212]
—
IRS1
ClinEX Pro
{Coronary artery disease, susceptibility to}; {Type 2 diabetes mellitus, susceptibility to} [OMIM 147545]
—
IRS2
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent} [OMIM 600797]
—
IRS4
ClinEX Pro
Hypothyroidism, congenital, nongoitrous, 9 [OMIM 300904]
—
IRX5
ClinEX Pro
Hamamy syndrome [OMIM 606195]
—
ISCA1
ClinEX Pro
Multiple mitochondrial dysfunctions syndrome 5 [OMIM 611006]
—
ISCA2
ClinEX Pro
Multiple mitochondrial dysfunctions syndrome 4 [OMIM 615317]
—
ISCU
ClinEX Pro
Myopathy with lactic acidosis, hereditary [OMIM 611911]
—
KDM4B
ClinEX Pro
Intellectual developmental disorder, autosomal dominant 65 [OMIM 609765]
—
ISG15
ClinEX Pro
Immunodeficiency 38 [OMIM 147571]
—
ITCH
ClinEX Pro
Autoimmune disease, multisystem, with facial dysmorphism [OMIM 606409]
—
ITGA2B
ClinEX Pro
Bleeding disorder, platelet-type, 16, autosomal dominant; Glanzmann thrombasthenia 1; Thrombocytopenia, neonatal alloimmune, BAK antigen related [OMIM 607759]
—
ITGA3
ClinEX Pro
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital [OMIM 605025]
—
ITGA6
ClinEX Pro
Epidermolysis bullosa, junctional, with pyloric stenosis [OMIM 147556]
—
ITGA7
ClinEX Pro
Muscular dystrophy, congenital, due to ITGA7 deficiency [OMIM 600536]
—
ITGA8
ClinEX Pro
Renal hypodysplasia/aplasia 1 [OMIM 604063]
—
ITGB3
ClinEX Pro
{Myocardial infarction, susceptibility to}; Bleeding disorder, platelet-type, 24, autosomal dominant; Glanzmann thrombasthenia 2; Purpura, posttransfusion; Thrombocytopenia, neonatal alloimmune [OMIM 173470]
—
ITGB4
ClinEX Pro
Epidermolysis bullosa of hands and feet; Epidermolysis bullosa, junctional, non-Herlitz type; Epidermolysis bullosa, junctional, with pyloric atresia [OMIM 147557]
—
ITGB6
ClinEX Pro
Amelogenesis imperfecta, type IH [OMIM 147558]
—
ITK
ClinEX Pro
Lymphoproliferative syndrome 1 [OMIM 186973]
—
ITM2B
ClinEX Pro
?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities; Dementia, familial British; Dementia, familial Danish [OMIM 603904]
—
ITPA
ClinEX Pro
[Inosine triphosphatase deficiency]; Developmental and epileptic encephalopathy 35 [OMIM 147520]
—
ITPR1
ClinEX Pro
Gillespie syndrome; Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive [OMIM 147265]
—
ITPR3
ClinEX Pro
{Diabetes, type 1, susceptibility to} [OMIM 147267]
—
IVNS1ABP
ClinEX Pro
Immunodeficiency 70 [OMIM 609209]
—
KIF20A
ClinEX Pro
?Cardiomyopathy, familial restrictive, 6 [OMIM 605664]
—
KIF23
ClinEX Pro
Anemia, congenital dyserythropoietic, type IIIA [OMIM 605064]
—
JAGN1
ClinEX Pro
Neutropenia, severe congenital, 6, autosomal recessive [OMIM 616012]
—
JAM2
ClinEX Pro
Basal ganglia calcification, idiopathic, 8, autosomal recessive [OMIM 606870]
—
JAM3
ClinEX Pro
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts [OMIM 606871]
—
JPH1
ClinEX Pro
?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K [OMIM 605266]
—
JPH3
ClinEX Pro
Huntington disease-like 2 [OMIM 605268]
—
KANK1
ClinEX Pro
Cerebral palsy, spastic quadriplegic, 2 [OMIM 607704]
—
KANK2
ClinEX Pro
Nephrotic syndrome, type 16; Palmoplantar keratoderma and woolly hair [OMIM 614610]
—
KANSL1
ClinEX Pro
Koolen-De Vries syndrome [OMIM 612452]
—
KARS1
ClinEX Pro
?Charcot-Marie-Tooth disease, recessive intermediate, B; Deafness, autosomal recessive 89; Deafness, congenital, and adult-onset progressive leukoencephalopathy; Leukoencephalopathy, progressive, infantile-onset, with or without deafness [OMIM 601421]
—
KAT5
ClinEX Pro
Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities [OMIM 601409]
—
KAT6A
ClinEX Pro
Arboleda-Tham syndrome [OMIM 601408]
—
KAT6B
ClinEX Pro
Genitopatellar syndrome; SBBYSS syndrome [OMIM 605880]
—
KAT8
ClinEX Pro
Li-Ghorgani-Weisz-Hubshman syndrome [OMIM 609912]
—
KATNB1
ClinEX Pro
Lissencephaly 6, with microcephaly [OMIM 602703]
—
KATNIP
ClinEX Pro
Joubert syndrome 26 [OMIM 616650]
—
KBTBD13
ClinEX Pro
Nemaline myopathy 6, autosomal dominant [OMIM 613727]
—
KCNA1
ClinEX Pro
Episodic ataxia/myokymia syndrome [OMIM 176260]
—
KCNA2
ClinEX Pro
Developmental and epileptic encephalopathy 32 [OMIM 176262]
—
KCNA4
ClinEX Pro
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum [OMIM 176266]
—
KCNB1
ClinEX Pro
Developmental and epileptic encephalopathy 26 [OMIM 600397]
—
KCNC1
ClinEX Pro
Epilepsy, progressive myoclonic 7 [OMIM 176258]
—
KCNC3
ClinEX Pro
Spinocerebellar ataxia 13 [OMIM 176264]
—
KCNH1
ClinEX Pro
Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1 [OMIM 603305]
—
KCNJ10
ClinEX Pro
Enlarged vestibular aqueduct, digenic; SESAME syndrome [OMIM 602208]
—
KCNJ13
ClinEX Pro
Leber congenital amaurosis 16; Snowflake vitreoretinal degeneration [OMIM 603208]
—
KCNJ18
ClinEX Pro
{Thyrotoxic periodic paralysis, susceptibility to, 2} [OMIM 613236]
—
KCNJ6
ClinEX Pro
Keppen-Lubinsky syndrome [OMIM 600877]
—
KCNK18
ClinEX Pro
{Migraine, with or without aura, susceptibility to, 13} [OMIM 613655]
—
KCNK3
ClinEX Pro
Pulmonary hypertension, primary, 4 [OMIM 603220]
—
KCNK4
ClinEX Pro
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome [OMIM 605720]
—
KCNK9
ClinEX Pro
Birk-Barel syndrome [OMIM 605874]
—
KCNMA1
ClinEX Pro
{Epilepsy, idiopathic generalized, susceptibility to, 16}; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy [OMIM 600150]
—
KCNMB1
ClinEX Pro
{Hypertension, diastolic, resistance to} [OMIM 603951]
—
KCNN3
ClinEX Pro
Zimmermann-Laband syndrome 3 [OMIM 602983]
—
KCNN4
ClinEX Pro
Dehydrated hereditary stomatocytosis 2 [OMIM 602754]
—
KCNQ1OT1
ClinEX Pro
Beckwith-Wiedemann syndrome [OMIM 604115]
—
KCNQ3
ClinEX Pro
Seizures, benign neonatal, 2 [OMIM 602232]
—
KCNQ4
ClinEX Pro
Deafness, autosomal dominant 2A [OMIM 603537]
—
KCNQ5
ClinEX Pro
Mental retardation, autosomal dominant 46 [OMIM 607357]
—
KCNT2
ClinEX Pro
Developmental and epileptic encephalopathy 57 [OMIM 610044]
—
KCNV2
ClinEX Pro
Retinal cone dystrophy 3B [OMIM 607604]
—
KCTD1
ClinEX Pro
Scalp-ear-nipple syndrome [OMIM 613420]
—
KCTD17
ClinEX Pro
Dystonia 26, myoclonic [OMIM 616386]
—
KCTD7
ClinEX Pro
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions [OMIM 611725]
—
KDELR2
ClinEX Pro
Osteogenesis imperfecta 21 [OMIM 609024]
—
KDF1
ClinEX Pro
?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type [OMIM 616758]
—
KDM1A
ClinEX Pro
Cleft palate, psychomotor retardation, and distinctive facial features [OMIM 609132]
—
KDM3B
ClinEX Pro
Diets-Jongmans syndrome [OMIM 609373]
—
KDM5B
ClinEX Pro
Mental retardation, autosomal recessive 65 [OMIM 605393]
—
KDM5C
ClinEX Pro
Mental retardation, X-linked, syndromic, Claes-Jensen type [OMIM 314690]
—
KDM6B
ClinEX Pro
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities [OMIM 611577]
—
KDSR
ClinEX Pro
Erythrokeratodermia variabilis et progressiva 4 [OMIM 136440]
—
KEL
ClinEX Pro
[Blood group, Kell] [OMIM 613883]
—
KERA
ClinEX Pro
Cornea plana 2, autosomal recessive [OMIM 603288]
—
KHDC3L
ClinEX Pro
Hydatidiform mole, recurrent, 2 [OMIM 611687]
—
KHK
ClinEX Pro
[Fructosuria] [OMIM 614058]
—
KIAA0586
ClinEX Pro
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly [OMIM 610178]
—
KIAA0753
ClinEX Pro
?Orofaciodigital syndrome XV [OMIM 617112]
—
KIAA0825
ClinEX Pro
Polydactyly, postaxial, type A10 [OMIM 617266]
—
KIDINS220
ClinEX Pro
Spastic paraplegia, intellectual disability, nystagmus, and obesity [OMIM 615759]
—
KIF11
ClinEX Pro
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [OMIM 148760]
—
KIF12
ClinEX Pro
Cholestasis, progressive familial intrahepatic, 8 [OMIM 611278]
—
KIF14
ClinEX Pro
?Meckel syndrome 12; Microcephaly 20, primary, autosomal recessive [OMIM 611279]
—
KIF1A
ClinEX Pro
NESCAV syndrome; Neuropathy, hereditary sensory, type IIC; Spastic paraplegia 30, autosomal dominant; Spastic paraplegia 30, autosomal recessive [OMIM 601255]
—
KIF1B
ClinEX Pro
{Neuroblastoma, susceptibility to, 1}; Charcot-Marie-Tooth disease, type 2A1; Pheochromocytoma [OMIM 605995]
—
KIF1C
ClinEX Pro
Spastic ataxia 2, autosomal recessive [OMIM 603060]
—
KIF21A
ClinEX Pro
Fibrosis of extraocular muscles, congenital, 1; Fibrosis of extraocular muscles, congenital, 3B [OMIM 608283]
—
KIF22
ClinEX Pro
Spondyloepimetaphyseal dysplasia with joint laxity, type 2 [OMIM 603213]
—
KIF2A
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 3 [OMIM 602591]
—
KIF3B
ClinEX Pro
Retinitis pigmentosa 89 [OMIM 603754]
—
KIF4A
ClinEX Pro
?Mental retardation, X-linked 100 [OMIM 300521]
—
KIF5A
ClinEX Pro
{Amyotrophic lateral sclerosis, susceptibility to, 25}; Myoclonus, intractable, neonatal; Spastic paraplegia 10, autosomal dominant [OMIM 602821]
—
KIF5C
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 2 [OMIM 604593]
—
KIF7
ClinEX Pro
?Al-Gazali-Bakalinova syndrome; ?Hydrolethalus syndrome 2; Acrocallosal syndrome; Joubert syndrome 12 [OMIM 611254]
—
KIFBP
ClinEX Pro
Goldberg-Shprintzen megacolon syndrome [OMIM 609367]
—
KIR3DL1
ClinEX Pro
{AIDS, delayed/rapid progression to} [OMIM 604946]
—
KIRREL1
ClinEX Pro
Nephrotic syndrome, type 23 [OMIM 607428]
—
KISS1
ClinEX Pro
?Hypogonadotropic hypogonadism 13 with or without anosmia [OMIM 603286]
—
KISS1R
ClinEX Pro
?Precocious puberty, central, 1; Hypogonadotropic hypogonadism 8 with or without anosmia [OMIM 604161]
—
KITLG
ClinEX Pro
[Skin/hair/eye pigmentation 7, blond/brown hair]; Deafness, autosomal dominant 69, unilateral or asymmetric; Hyperpigmentation with or without hypopigmentation [OMIM 184745]
—
KIZ
ClinEX Pro
Retinitis pigmentosa 69 [OMIM 615757]
—
KL
ClinEX Pro
?Tumoral calcinosis, hyperphosphatemic, familial, 3 [OMIM 604824]
—
KLC2
ClinEX Pro
Spastic paraplegia, optic atrophy, and neuropathy [OMIM 611729]
—
KLF1
ClinEX Pro
[Hereditary persistence of fetal hemoglobin]; Blood group--Lutheran inhibitor; Dyserythropoietic anemia, congenital, type IV [OMIM 600599]
—
KLF11
ClinEX Pro
Maturity-onset diabetes of the young, type VII [OMIM 603301]
—
KLF6
ClinEX Pro
Gastric cancer, somatic; Prostate cancer, somatic [OMIM 602053]
—
KLHDC8B
ClinEX Pro
{Hodgkin lymphoma, susceptibility to} [OMIM 613169]
—
KLHL10
ClinEX Pro
Spermatogenic failure 11 [OMIM 608778]
—
KLHL15
ClinEX Pro
Mental retardation, X-linked 103 [OMIM 300980]
—
KLHL24
ClinEX Pro
Epidermolysis bullosa simplex, generalized, with scarring and hair loss [OMIM 611295]
—
KLHL3
ClinEX Pro
Pseudohypoaldosteronism, type IID [OMIM 605775]
—
LIG1
ClinEX Pro
Immunodeficiency 96 [OMIM 126391]
—
LIG3
ClinEX Pro
Mitochondrial DNA depletion syndrome 20 (MNGIE type) [OMIM 600940]
—
KLHL40
ClinEX Pro
Nemaline myopathy 8, autosomal recessive [OMIM 615340]
—
KLHL41
ClinEX Pro
Nemaline myopathy 9 [OMIM 607701]
—
KLHL7
ClinEX Pro
PERCHING syndrome; Retinitis pigmentosa 42 [OMIM 611119]
—
KLK1
ClinEX Pro
[Kallikrein, decreased urinary activity of] [OMIM 147910]
—
KLK4
ClinEX Pro
Amelogenesis imperfecta, type IIA1 [OMIM 603767]
—
KLKB1
ClinEX Pro
Fletcher factor (prekallikrein) deficiency [OMIM 229000]
—
KLLN
ClinEX Pro
Cowden syndrome 4 [OMIM 612105]
—
KMT2B
ClinEX Pro
Dystonia 28, childhood-onset [OMIM 606834]
—
KMT2C
ClinEX Pro
Kleefstra syndrome 2 [OMIM 606833]
—
KMT2E
ClinEX Pro
O'Donnell-Luria-Rodan syndrome [OMIM 608444]
—
KMT5B
ClinEX Pro
Mental retardation, autosomal dominant 51 [OMIM 610881]
—
KNG1
ClinEX Pro
[High molecular weight kininogen deficiency]; [Kininogen deficiency] [OMIM 612358]
—
KNSTRN
ClinEX Pro
?Roifman-Chitayat syndrome, digenic [OMIM 614718]
—
KPTN
ClinEX Pro
Mental retardation, autosomal recessive 41 [OMIM 615620]
—
KREMEN1
ClinEX Pro
Ectodermal dysplasia 13, hair/tooth type [OMIM 609898]
—
KRIT1
ClinEX Pro
Cavernous malformations of CNS and retina; Cerebral cavernous malformations-1; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations [OMIM 604214]
—
KRT1
ClinEX Pro
Epidermolytic hyperkeratosis; Ichthyosis histrix, Curth-Macklin type; Ichthyosis, cyclic, with epidermolytic hyperkeratosis; Keratosis palmoplantaris striata III; Palmoplantar keratoderma, epidermolytic; Palmoplantar keratoderma, nonepidermolytic [OMIM 139350]
—
KRT10
ClinEX Pro
Epidermolytic hyperkeratosis; Ichthyosis with confetti; Ichthyosis, cyclic, with epidermolytic hyperkeratosis [OMIM 148080]
—
KRT12
ClinEX Pro
Meesmann corneal dystrophy 1 [OMIM 601687]
—
KRT13
ClinEX Pro
White sponge nevus 2 [OMIM 148065]
—
KRT14
ClinEX Pro
Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, recessive 1; Epidermolysis bullosa simplex, Weber-Cockayne type; Naegeli-Franceschetti-Jadassohn syndrome [OMIM 148066]
—
LMOD1
ClinEX Pro
?Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 [OMIM 602715]
—
KRT16
ClinEX Pro
Pachyonychia congenita 1; Palmoplantar keratoderma, nonepidermolytic, focal [OMIM 148067]
—
KRT17
ClinEX Pro
Pachyonychia congenita 2; Steatocystoma multiplex [OMIM 148069]
—
KRT18
ClinEX Pro
{Cirrhosis, noncryptogenic, susceptibility to}; Cirrhosis, cryptogenic [OMIM 148070]
—
KRT2
ClinEX Pro
Ichthyosis bullosa of Siemens [OMIM 600194]
—
KRT25
ClinEX Pro
Woolly hair, autosomal recessive 3 [OMIM 616646]
—
KRT3
ClinEX Pro
Meesmann corneal dystrophy 2 [OMIM 148043]
—
KRT4
ClinEX Pro
White sponge nevus 1 [OMIM 123940]
—
KRT5
ClinEX Pro
Dowling-Degos disease 1; Epidermolysis bullosa simplex- MCR; Epidermolysis bullosa simplex-MP; Epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, recessive 1; Epidermolysis bullosa simplex, Weber-Cockayne type [OMIM 148040]
—
KRT6A
ClinEX Pro
Pachyonychia congenita 3 [OMIM 148041]
—
LOXL3
ClinEX Pro
Myopia 28, autosomal recessive [OMIM 607163]
—
KRT6B
ClinEX Pro
Pachyonychia congenita 4 [OMIM 148042]
—
KRT6C
ClinEX Pro
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse [OMIM 612315]
—
KRT71
ClinEX Pro
?Hypotrichosis 13 [OMIM 608245]
—
KRT74
ClinEX Pro
?Ectodermal dysplasia 7, hair/nail type; ?Hypotrichosis 3; Woolly hair, autosomal dominant [OMIM 608248]
—
KRT75
ClinEX Pro
{Pseudofolliculitis barbae, susceptibility to} [OMIM 609025]
—
KRT8
ClinEX Pro
{Cirrhosis, noncryptogenic, susceptibility to}; Cirrhosis, cryptogenic [OMIM 148060]
—
KRT81
ClinEX Pro
Monilethrix [OMIM 602153]
—
KRT83
ClinEX Pro
Erythrokeratodermia variabilis et progressiva 5; Monilethrix [OMIM 602765]
—
KRT85
ClinEX Pro
Ectodermal dysplasia 4, hair/nail type [OMIM 602767]
—
KRT86
ClinEX Pro
Monilethrix [OMIM 601928]
—
KRT9
ClinEX Pro
Palmoplantar keratoderma, epidermolytic [OMIM 607606]
—
KY
ClinEX Pro
Myopathy, myofibrillar, 7 [OMIM 605739]
—
KYNU
ClinEX Pro
?Hydroxykynureninuria; Vertebral, cardiac, renal, and limb defects syndrome 2 [OMIM 605197]
—
L1CAM
ClinEX Pro
Corpus callosum, partial agenesis of; CRASH syndrome; Hydrocephalus due to aqueductal stenosis; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; Hydrocephalus with Hirschsprung disease; MASA syndrome [OMIM 308840]
—
L2HGDH
ClinEX Pro
L-2-hydroxyglutaric aciduria [OMIM 609584]
—
LACC1
ClinEX Pro
Juvenile arthritis [OMIM 613409]
—
LAGE3
ClinEX Pro
Galloway-Mowat syndrome 2, X-linked [OMIM 300060]
—
LAMA1
ClinEX Pro
Poretti-Boltshauser syndrome [OMIM 150320]
—
LAMA3
ClinEX Pro
Epidermolysis bullosa, generalized atrophic benign; Epidermolysis bullosa, junctional, Herlitz type; Laryngoonychocutaneous syndrome [OMIM 600805]
—
LAMB1
ClinEX Pro
Lissencephaly 5 [OMIM 150240]
—
LAMB2
ClinEX Pro
Nephrotic syndrome, type 5, with or without ocular abnormalities; Pierson syndrome [OMIM 150325]
—
LRRK1
ClinEX Pro
Osteosclerotic metaphyseal dysplasia [OMIM 610986]
—
LAMB3
ClinEX Pro
Amelogenesis imperfecta, type IA; Epidermolysis bullosa, junctional, Herlitz type; Epidermolysis bullosa, junctional, non-Herlitz type [OMIM 150310]
—
LAMC2
ClinEX Pro
Epidermolysis bullosa, junctional, Herlitz type; Epidermolysis bullosa, junctional, non-Herlitz type [OMIM 150292]
—
LAMC3
ClinEX Pro
Cortical malformations, occipital [OMIM 604349]
—
LTBP1
ClinEX Pro
Cutis laxa, autosomal recessive, type IIE [OMIM 150390]
—
LARGE1
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 [OMIM 603590]
—
LARP7
ClinEX Pro
Alazami syndrome [OMIM 612026]
—
LARS1
ClinEX Pro
?Infantile liver failure syndrome 1 [OMIM 151350]
—
LARS2
ClinEX Pro
Hydrops, lactic acidosis, and sideroblastic anemia; Perrault syndrome 4 [OMIM 604544]
—
LAS1L
ClinEX Pro
Wilson-Turner syndrome [OMIM 300964]
—
LAT
ClinEX Pro
Immunodeficiency 52 [OMIM 602354]
—
LBR
ClinEX Pro
?Reynolds syndrome; Greenberg skeletal dysplasia; Pelger-Huet anomaly; Pelger-Huet anomaly with mild skeletal anomalies [OMIM 600024]
—
LBX1
ClinEX Pro
?Central hypoventilation syndrome, congenital, 3 [OMIM 604255]
—
LCA5
ClinEX Pro
Leber congenital amaurosis 5 [OMIM 611408]
—
LCAT
ClinEX Pro
Fish-eye disease; Norum disease [OMIM 606967]
—
LCK
ClinEX Pro
?Immunodeficiency 22 [OMIM 153390]
—
LCP2
ClinEX Pro
?Immunodeficiency 81 [OMIM 601603]
—
LCT
ClinEX Pro
Lactase deficiency, congenital [OMIM 603202]
—
LDHA
ClinEX Pro
Glycogen storage disease XI [OMIM 150000]
—
LDHB
ClinEX Pro
[Lactate dehydrogenase-B deficiency] [OMIM 150100]
—
LDHD
ClinEX Pro
D-lactic aciduria with susceptibility to gout [OMIM 607490]
—
LEF1
ClinEX Pro
Sebaceous tumors, somatic [OMIM 153245]
—
LEMD2
ClinEX Pro
Cataract 46, juvenile-onset [OMIM 616312]
—
LEMD3
ClinEX Pro
Buschke-Ollendorff syndrome; Osteopoikilosis with or without melorheostosis [OMIM 607844]
—
LEP
ClinEX Pro
Obesity, morbid, due to leptin deficiency [OMIM 164160]
—
LEPR
ClinEX Pro
Obesity, morbid, due to leptin receptor deficiency [OMIM 601007]
—
LFNG
ClinEX Pro
Spondylocostal dysostosis 3, autosomal recessive [OMIM 602576]
—
LGALS2
ClinEX Pro
{Myocardial infarction, susceptibility to} [OMIM 150571]
—
LGI1
ClinEX Pro
Epilepsy, familial temporal lobe, 1 [OMIM 604619]
—
LGI4
ClinEX Pro
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect [OMIM 608303]
—
LGR4
ClinEX Pro
{Bone mineral density, low, susceptibility to} [OMIM 606666]
—
LHFPL5
ClinEX Pro
Deafness, autosomal recessive 67 [OMIM 609427]
—
LIAS
ClinEX Pro
Hyperglycinemia, lactic acidosis, and seizures [OMIM 607031]
—
LIFR
ClinEX Pro
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome [OMIM 151443]
—
LIG4
ClinEX Pro
{Multiple myeloma, resistance to}; LIG4 syndrome [OMIM 601837]
—
LIM2
ClinEX Pro
Cataract 19, multiple types [OMIM 154045]
—
LIMA1
ClinEX Pro
[Low density lipoprotein cholesterol level QTL 8] [OMIM 608364]
—
LIMS2
ClinEX Pro
?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue [OMIM 607908]
—
LINGO1
ClinEX Pro
Mental retardation, autosomal recessive 64 [OMIM 609791]
—
LINS1
ClinEX Pro
Mental retardation, autosomal recessive 27 [OMIM 610350]
—
LIPC
ClinEX Pro
[High density lipoprotein cholesterol level QTL 12]; {Diabetes mellitus, noninsulin-dependent}; Hepatic lipase deficiency [OMIM 151670]
—
LIPE
ClinEX Pro
Lipodystrophy, familial partial, type 6 [OMIM 151750]
—
LIPH
ClinEX Pro
Hypotrichosis 7; Woolly hair, autosomal recessive 2 with or without hypotrichosis [OMIM 607365]
—
LIPN
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 8 [OMIM 613924]
—
LIPT1
ClinEX Pro
Lipoyltransferase 1 deficiency [OMIM 610284]
—
LIPT2
ClinEX Pro
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities [OMIM 617659]
—
LITAF
ClinEX Pro
Charcot-Marie-Tooth disease, type 1C [OMIM 603795]
—
LMAN1
ClinEX Pro
Combined factor V and VIII deficiency [OMIM 601567]
—
LMAN2L
ClinEX Pro
?Mental retardation, autosomal recessive, 52 [OMIM 609552]
—
LMBR1
ClinEX Pro
Acheiropody; Hypoplastic or aplastic tibia with polydactyly; Laurin-Sandrow syndrome; Polydactyly, preaxial type II; Syndactyly, type IV; Triphalangeal thumb-polysyndactyly syndrome; Triphalangeal thumb, type I [OMIM 605522]
—
LMBRD2 ENSG0
ClinEX Pro
Developmental delay with variable neurologic and brain abnormalities [OMIM 96661093490]
—
LMNB1
ClinEX Pro
Leukodystrophy, adult-onset, autosomal dominant; Microcephaly 26, primary, autosomal dominant [OMIM 150340]
—
LMNB2
ClinEX Pro
?Epilepsy, progressive myoclonic, 9; {Lipodystrophy, partial, acquired, susceptibility to}; Microcephaly 27, primary, autosomal dominant [OMIM 150341]
—
LMO1
ClinEX Pro
Leukemia, T-cell acute lymphoblastic [OMIM 186921]
—
LMO2
ClinEX Pro
Leukemia, acute T-cell [OMIM 180385]
—
LMOD2
ClinEX Pro
Cardiomyopathy, dilated, 2G [OMIM 608006]
—
LMOD3
ClinEX Pro
Nemaline myopathy 10 [OMIM 616112]
—
LMX1A
ClinEX Pro
Deafness, autosomal dominant 7 [OMIM 600298]
—
LMX1B
ClinEX Pro
Focal segmental glomerulosclerosis 10; Nail-patella syndrome [OMIM 602575]
—
LNPK
ClinEX Pro
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum [OMIM 610236]
—
LONP1
ClinEX Pro
CODAS syndrome [OMIM 605490]
—
LORICRIN
ClinEX Pro
Vohwinkel syndrome with ichthyosis [OMIM 152445]
—
LOXHD1
ClinEX Pro
Deafness, autosomal recessive 77 [OMIM 613072]
—
LOXL1
ClinEX Pro
{Exfoliation syndrome, susceptibility to} [OMIM 153456]
—
LPA
ClinEX Pro
[LPA deficiency, congenital]; {Coronary artery disease, susceptibility to} [OMIM 152200]
—
LPAR6
ClinEX Pro
Hypotrichosis 8; Woolly hair, autosomal recessive 1, with or without hypotrichosis [OMIM 609239]
—
LPIN1
ClinEX Pro
Myoglobinuria, acute recurrent, autosomal recessive [OMIM 605518]
—
LPIN2
ClinEX Pro
Majeed syndrome [OMIM 605519]
—
LRAT
ClinEX Pro
Leber congenital amaurosis 14; Retinal dystrophy, early-onset severe; Retinitis pigmentosa, juvenile [OMIM 604863]
—
LRIF1
ClinEX Pro
?Facioscapulohumeral muscular dystrophy 3, digenic [OMIM 615354]
—
LRIG2
ClinEX Pro
Urofacial syndrome 2 [OMIM 608869]
—
LRIT3
ClinEX Pro
Night blindness, congenital stationary (complete), 1F, autosomal recessive [OMIM 615004]
—
LRMDA
ClinEX Pro
Albinism, oculocutaneous, type VII [OMIM 614537]
—
LRP1
ClinEX Pro
?Keratosis pilaris atrophicans [OMIM 107770]
—
LRP12
ClinEX Pro
Oculopharyngodistal myopathy 1 [OMIM 618299]
—
LRP2
ClinEX Pro
Donnai-Barrow syndrome [OMIM 600073]
—
LRP5
ClinEX Pro
[Bone mineral density variability 1]; {Osteoporosis}; Exudative vitreoretinopathy 4; Hyperostosis, endosteal; Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome; Osteosclerosis; Polycystic liver disease 4 with or without kidney cysts; van Buchem disease, type 2 [OMIM 603506]
—
LRP6
ClinEX Pro
{Coronary artery disease, autosomal dominant, 2}; Tooth agenesis, selective, 7 [OMIM 603507]
—
LRP8
ClinEX Pro
{Myocardial infarction, susceptibility to} [OMIM 602600]
—
LRPAP1
ClinEX Pro
Myopia 23, autosomal recessive [OMIM 104225]
—
LRPPRC
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) [OMIM 607544]
—
LRRC32
ClinEX Pro
Cleft palate, proliferative retinopathy, and developmental delay [OMIM 137207]
—
LRRC56
ClinEX Pro
Ciliary dyskinesia, primary, 39 [OMIM 618227]
—
LRRC8A
ClinEX Pro
?Agammaglobulinemia 5 [OMIM 608360]
—
LRRK2
ClinEX Pro
{Parkinson disease 8} [OMIM 609007]
—
LRSAM1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2P [OMIM 610933]
—
LRTOMT
ClinEX Pro
Deafness, autosomal recessive 63 [OMIM 612414]
—
LSM11
ClinEX Pro
?Aicardi-Goutieres syndrome 8 [OMIM 617910]
—
LSS
ClinEX Pro
Alopecia-mental retardation syndrome 4; Cataract 44; Hypotrichosis 14 [OMIM 600909]
—
LTA
ClinEX Pro
{Leprosy, susceptibility to, 4}; {Myocardial infarction, susceptibility to}; {Psoriatic arthritis, susceptibility to} [OMIM 153440]
—
LTBP3
ClinEX Pro
Dental anomalies and short stature; Geleophysic dysplasia 3 [OMIM 602090]
—
LTBP4
ClinEX Pro
Cutis laxa, autosomal recessive, type IC [OMIM 604710]
—
LTC4S
ClinEX Pro
Leukotriene C4 synthase deficiency [OMIM 246530]
—
LYL1
ClinEX Pro
Leukemia, T-cell acute lymphoblastoid [OMIM 151440]
—
LYRM4
ClinEX Pro
?Combined oxidative phosphorylation deficiency 19 [OMIM 613311]
—
LYRM7
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 8 [OMIM 615831]
—
LYZ
ClinEX Pro
Amyloidosis, renal [OMIM 153450]
—
LZTFL1
ClinEX Pro
Bardet-Biedl syndrome 17 [OMIM 606568]
—
LZTS1
ClinEX Pro
Esophageal squamous cell carcinoma, somatic [OMIM 606551]
—
M1AP
ClinEX Pro
Spermatogenic failure 48 [OMIM 619098]
—
MAB21L1
ClinEX Pro
Cerebellar, ocular, craniofacial, and genital syndrome [OMIM 601280]
—
MAB21L2
ClinEX Pro
Microphthalmia/coloboma and skeletal dysplasia syndrome [OMIM 604357]
—
MACF1
ClinEX Pro
Lissencephaly 9 with complex brainstem malformation [OMIM 608271]
—
MAD1L1
ClinEX Pro
Lymphoma, somatic; Prostate cancer, somatic [OMIM 602686]
—
MADD
ClinEX Pro
DEEAH syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia [OMIM 603584]
—
MAF
ClinEX Pro
Ayme-Gripp syndrome; Cataract 21, multiple types [OMIM 177075]
—
MAFA
ClinEX Pro
Insulinomatosis and diabetes mellitus [OMIM 610303]
—
MAFB
ClinEX Pro
Duane retraction syndrome 3; Multicentric carpotarsal osteolysis syndrome [OMIM 608968]
—
MAG
ClinEX Pro
Spastic paraplegia 75, autosomal recessive [OMIM 159460]
—
MAGEL2
ClinEX Pro
Schaaf-Yang syndrome [OMIM 605283]
—
MAGI2
ClinEX Pro
Nephrotic syndrome, type 15 [OMIM 606382]
—
MAK
ClinEX Pro
Retinitis pigmentosa 62 [OMIM 154235]
—
MALT1
ClinEX Pro
Immunodeficiency 12 [OMIM 604860]
—
MAMLD1
ClinEX Pro
Hypospadias 2, X-linked [OMIM 300120]
—
MAN1B1
ClinEX Pro
Rafiq syndrome [OMIM 604346]
—
MAN2C1
ClinEX Pro
Congenital disorder of deglycosylation 2 [OMIM 154580]
—
MANBA
ClinEX Pro
Mannosidosis, beta [OMIM 609489]
—
MAOA
ClinEX Pro
{Antisocial behavior}; Brunner syndrome [OMIM 309850]
—
MAP1B
ClinEX Pro
Periventricular nodular heterotopia 9 [OMIM 157129]
—
MAP3K1
ClinEX Pro
46XY sex reversal 6 [OMIM 600982]
—
MAP3K20
ClinEX Pro
Centronuclear myopathy 6 with fiber-type disproportion; Split-foot malformation with mesoaxial polydactyly [OMIM 609479]
—
MAP3K7
ClinEX Pro
Cardiospondylocarpofacial syndrome; Frontometaphyseal dysplasia 2 [OMIM 602614]
—
MAP3K8
ClinEX Pro
Lung cancer, somatic [OMIM 191195]
—
MAPK8IP1
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent} [OMIM 604641]
—
MAPK8IP3
ClinEX Pro
Neurodevelopmental disorder with or without variable brain abnormalities [OMIM 605431]
—
MAPKAPK3
ClinEX Pro
?Macular dystrophy, patterned, 3 [OMIM 602130]
—
MAPKAPK5
ClinEX Pro
Neurocardiofaciodigital syndrome [OMIM 606723]
—
MAPKBP1
ClinEX Pro
Nephronophthisis 20 [OMIM 616786]
—
MAPRE2
ClinEX Pro
Symmetric circumferential skin creases, congenital, 2 [OMIM 605789]
—
MAPT
ClinEX Pro
{Parkinson disease, susceptibility to}; Dementia, frontotemporal, with or without parkinsonism; Pick disease; Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical [OMIM 157140]
—
MARCHF6
ClinEX Pro
Epilepsy, familial adult myoclonic, 3 [OMIM 613297]
—
MARK3
ClinEX Pro
?Visual impairment and progressive phthisis bulbi [OMIM 602678]
—
MARS1
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2U; Interstitial lung and liver disease [OMIM 156560]
—
MARS2
ClinEX Pro
?Combined oxidative phosphorylation deficiency 25; Spastic ataxia 3, autosomal recessive [OMIM 609728]
—
MARVELD2
ClinEX Pro
Deafness, autosomal recessive 49 [OMIM 610572]
—
MASP1
ClinEX Pro
3MC syndrome 1 [OMIM 600521]
—
MASP2
ClinEX Pro
MASP2 deficiency [OMIM 605102]
—
MATN3
ClinEX Pro
?Spondyloepimetaphyseal dysplasia, Borochowitz Cormier-Daire type; {Osteoarthritis susceptibility 2}; Epiphyseal dysplasia, multiple, 5 [OMIM 602109]
—
MATR3
ClinEX Pro
Amyotrophic lateral sclerosis 21 [OMIM 164015]
—
MAX
ClinEX Pro
{Pheochromocytoma, susceptibility to} [OMIM 154950]
—
MBD5
ClinEX Pro
Mental retardation, autosomal dominant 1 [OMIM 611472]
—
MBL2
ClinEX Pro
{Chronic infections, due to MBL deficiency} [OMIM 154545]
—
MBOAT7
ClinEX Pro
Mental retardation, autosomal recessive 57 [OMIM 606048]
—
MBTPS1
ClinEX Pro
?Spondyloepiphyseal dysplasia, Kondo-Fu type [OMIM 603355]
—
MBTPS2
ClinEX Pro
?Olmsted syndrome, X-linked; IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked; Osteogenesis imperfecta, type XIX [OMIM 300294]
—
MC1R
ClinEX Pro
[Analgesia from kappa-opioid receptor agonist, female- specific]; [Skin/hair/eye pigmentation 2, blond hair/fair skin]; [Skin/hair/eye pigmentation 2, red hair/fair skin]; {Albinism, oculocutaneous, type II, modifier of}; {Melanoma, cutaneous malignant, 5}; {UV-induced skin damage} [OMIM 155555]
—
MC3R
ClinEX Pro
{Obesity, severe, susceptibility to, BMIQ9} [OMIM 155540]
—
MC4R
ClinEX Pro
{Obesity, resistance to (BMIQ20)}; Obesity (BMIQ20) [OMIM 155541]
—
MCC
ClinEX Pro
Colorectal cancer, somatic [OMIM 159350]
—
MCEE
ClinEX Pro
Methylmalonyl-CoA epimerase deficiency [OMIM 608419]
—
MCFD2
ClinEX Pro
Factor V and factor VIII, combined deficiency of [OMIM 607788]
—
MCIDAS
ClinEX Pro
Ciliary dyskinesia, primary, 42 [OMIM 614086]
—
MCM10
ClinEX Pro
Immunodeficiency 80 with or without cardiomyopathy [OMIM 609357]
—
MCM2
ClinEX Pro
?Deafness, autosomal dominant 70 [OMIM 116945]
—
MCM3AP
ClinEX Pro
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development [OMIM 603294]
—
MCM4
ClinEX Pro
Immunodeficiency 54 [OMIM 602638]
—
MCM5
ClinEX Pro
?Meier-Gorlin syndrome 8 [OMIM 602696]
—
MCM6
ClinEX Pro
Lactase persistence/nonpersistence [OMIM 601806]
—
MCM8
ClinEX Pro
?Premature ovarian failure 10 [OMIM 608187]
—
MCM9
ClinEX Pro
Ovarian dysgenesis 4 [OMIM 610098]
—
MDH1
ClinEX Pro
?Developmental and epileptic encephalopathy 88 [OMIM 154200]
—
MDH2
ClinEX Pro
Developmental and epileptic encephalopathy 51 [OMIM 154100]
—
MDM2
ClinEX Pro
?Lessel-Kubisch syndrome; {Accelerated tumor formation, susceptibility to} [OMIM 164785]
—
MDM4
ClinEX Pro
?Bone marrow failure syndrome 6 [OMIM 602704]
—
MECP2
ClinEX Pro
{Autism susceptibility, X-linked 3}; Encephalopathy, neonatal severe; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13; Rett syndrome; Rett syndrome, atypical; Rett syndrome, preserved speech variant [OMIM 300005]
—
MECR
ClinEX Pro
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities [OMIM 608205]
—
MED12
ClinEX Pro
Lujan-Fryns syndrome; Ohdo syndrome, X-linked; Opitz-Kaveggia syndrome [OMIM 300188]
—
MED12L
ClinEX Pro
Nizon-Isidor syndrome [OMIM 611318]
—
MED13
ClinEX Pro
Intellectual developmental disorder 61 [OMIM 603808]
—
MED13L
ClinEX Pro
Mental retardation and distinctive facial features with or without cardiac defects; Transposition of the great arteries, dextro-looped 1 [OMIM 608771]
—
MED17
ClinEX Pro
Microcephaly, postnatal progressive, with seizures and brain atrophy [OMIM 603810]
—
MED23
ClinEX Pro
Mental retardation, autosomal recessive 18 [OMIM 605042]
—
MED25
ClinEX Pro
Basel-Vanagait-Smirin-Yosef syndrome [OMIM 610197]
—
MED27
ClinEX Pro
urodevelopmental disorder with spasticity, cataracts, and cerebellar hypopla [OMIM 605044Ne]
—
MSH4
ClinEX Pro
Premature ovarian failure 20 [OMIM 602105]
—
MEF2A
ClinEX Pro
{Coronary artery disease, autosomal dominant, 1} [OMIM 600660]
—
MEF2C
ClinEX Pro
Chromosome 5q14.3 deletion syndrome; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations [OMIM 600662]
—
MEGF10
ClinEX Pro
Myopathy, areflexia, respiratory distress, and dysphagia, early- onset; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant [OMIM 612453]
—
MEGF8
ClinEX Pro
Carpenter syndrome 2 [OMIM 604267]
—
MEI1
ClinEX Pro
Hydatidiform mole, recurrent, 3 [OMIM 608797]
—
MEIOB
ClinEX Pro
?Spermatogenic failure 22 [OMIM 617670]
—
MEIS2
ClinEX Pro
Cleft palate, cardiac defects, and mental retardation [OMIM 601740]
—
MEOX1
ClinEX Pro
Klippel-Feil syndrome 2 [OMIM 600147]
—
MERTK
ClinEX Pro
Retinitis pigmentosa 38 [OMIM 604705]
—
MESD
ClinEX Pro
Osteogenesis imperfecta, type XX [OMIM 607783]
—
MESP2
ClinEX Pro
Spondylocostal dysostosis 2, autosomal recessive [OMIM 605195]
—
METTL13
ClinEX Pro
?{Deafness, autosomal recessive 26, modifier of}
—
METTL23
ClinEX Pro
Mental retardation, autosomal recessive 44 [OMIM 615262]
—
METTL5
ClinEX Pro
Intellectual developmental disorder, autosomal recessive 72 [OMIM 618628]
—
MFF
ClinEX Pro
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [OMIM 614785]
—
MFHAS1
ClinEX Pro
Malignant fibrous histiocytoma [OMIM 605352]
—
MFN2
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2A2A; Charcot-Marie-Tooth disease, axonal, type 2A2B; Hereditary motor and sensory neuropathy VIA [OMIM 608507]
—
MFRP
ClinEX Pro
Microphthalmia, isolated 5; Nanophthalmos 2 [OMIM 606227]
—
MFSD2A
ClinEX Pro
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities [OMIM 614397]
—
MFSD8
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 7; Macular dystrophy with central cone involvement [OMIM 611124]
—
MGAT2
ClinEX Pro
Congenital disorder of glycosylation, type IIa [OMIM 602616]
—
MGME1
ClinEX Pro
Mitochondrial DNA depletion syndrome 11 [OMIM 615076]
—
MGP
ClinEX Pro
Keutel syndrome [OMIM 154870]
—
MIA3
ClinEX Pro
?Ondontochondrodysplasia 2 with hearing loss and diabetes [OMIM 613455]
—
MIAT
ClinEX Pro
{Myocardial infarction, susceptibility to} [OMIM 611082]
—
MICOS13
ClinEX Pro
Combined oxidative phosphorylation deficiency 37 [OMIM 616658]
—
MICU1
ClinEX Pro
Myopathy with extrapyramidal signs [OMIM 605084]
—
MID1
ClinEX Pro
Opitz GBBB syndrome, type I [OMIM 300552]
—
MID2
ClinEX Pro
?Mental retardation, X-linked 101 [OMIM 300204]
—
MIEF2
ClinEX Pro
?Combined oxidative phosphorylation deficiency 49 [OMIM 615498]
—
MIF
ClinEX Pro
{Rheumatoid arthritis, systemic juvenile, susceptibility to} [OMIM 153620]
—
MINPP1
ClinEX Pro
{Thyroid carcinoma, follicular} [OMIM 605391]
—
MIP
ClinEX Pro
Cataract 15, multiple types [OMIM 154050]
—
MIPEP
ClinEX Pro
Combined oxidative phosphorylation deficiency 31 [OMIM 602241]
—
MIR140
ClinEX Pro
Spondyloepiphyseal dysplasia, Nishimura type [OMIM 611894]
—
MIR184
ClinEX Pro
EDICT syndrome [OMIM 613146]
—
MIR204
ClinEX Pro
?Retinal dystrophy and iris coloboma with or without cataract [OMIM 610942]
—
MIR2861
ClinEX Pro
[Bone mineral density QTL 15] [OMIM 613405]
—
MIR96
ClinEX Pro
Deafness, autosomal dominant 50 [OMIM 611606]
—
MITF
ClinEX Pro
{Melanoma, cutaneous malignant, susceptibility to, 8}; COMMAD syndrome; Tietz albinism-deafness syndrome; Waardenburg syndrome, type 2A; Waardenburg syndrome/ocular albinism, digenic [OMIM 156845]
—
MKKS
ClinEX Pro
Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome [OMIM 604896]
—
MKRN3
ClinEX Pro
Precocious puberty, central, 2 [OMIM 603856]
—
MKS1
ClinEX Pro
Bardet-Biedl syndrome 13; Joubert syndrome 28; Meckel syndrome 1 [OMIM 609883]
—
MLC1
ClinEX Pro
Megalencephalic leukoencephalopathy with subcortical cysts [OMIM 605908]
—
MLH3
ClinEX Pro
{Endometrial cancer, susceptibility to}; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer, somatic [OMIM 604395]
—
MLPH
ClinEX Pro
Griscelli syndrome, type 3 [OMIM 606526]
—
MYL9
ClinEX Pro
?Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 [OMIM 609905]
—
MME
ClinEX Pro
?Spinocerebellar ataxia 43; Charcot-Marie-Tooth disease, axonal, type 2T [OMIM 120520]
—
MMP1
ClinEX Pro
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}; COPD, rate of decline of lung function in [OMIM 120353]
—
MMP13
ClinEX Pro
?Spondyloepimetaphyseal dysplasia, Missouri type; Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type [OMIM 600108]
—
MMP14
ClinEX Pro
?Winchester syndrome [OMIM 600754]
—
MMP19
ClinEX Pro
Cavitary optic disc anomalies [OMIM 601807]
—
MMP2
ClinEX Pro
Multicentric osteolysis, nodulosis, and arthropathy [OMIM 120360]
—
MYO1H
ClinEX Pro
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunctio [OMIM 614636 ?]
—
MMP20
ClinEX Pro
Amelogenesis imperfecta, type IIA2 [OMIM 604629]
—
MMP21
ClinEX Pro
Heterotaxy, visceral, 7, autosomal [OMIM 608416]
—
MMP3
ClinEX Pro
{Coronary heart disease, susceptibility to, 6} [OMIM 185250]
—
MMP9
ClinEX Pro
Metaphyseal anadysplasia 2 [OMIM 120361]
—
MNS1
ClinEX Pro
Heterotaxy, visceral, 9, autosomal, with male infertility [OMIM 610766]
—
MNX1
ClinEX Pro
Currarino syndrome [OMIM 142994]
—
MOCOS
ClinEX Pro
Xanthinuria, type II [OMIM 613274]
—
MYOF
ClinEX Pro
?Angioedema, hereditary, 7 [OMIM 604603]
—
MOCS2
ClinEX Pro
Molybdenum cofactor deficiency B [OMIM 603708]
—
MOG
ClinEX Pro
?Narcolepsy 7 [OMIM 159465]
—
MOGS
ClinEX Pro
Congenital disorder of glycosylation, type IIb [OMIM 601336]
—
MORC2
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy [OMIM 616661]
—
MPC1
ClinEX Pro
Mitochondrial pyruvate carrier deficiency [OMIM 614738]
—
MPDU1
ClinEX Pro
Congenital disorder of glycosylation, type If [OMIM 604041]
—
MPDZ
ClinEX Pro
Hydrocephalus, congenital, 2, with or without brain or eye anomalies [OMIM 603785]
—
MPEG1
ClinEX Pro
Immunodeficiency 77 [OMIM 610390]
—
MPIG6B
ClinEX Pro
?Thrombocytopenia, anemia, and myelofibrosis [OMIM 606520]
—
MPLKIP
ClinEX Pro
Trichothiodystrophy 4, nonphotosensitive [OMIM 609188]
—
MPO
ClinEX Pro
{Alzheimer disease, susceptibility to}; {Lung cancer, protection against, in smokers}; Myeloperoxidase deficiency [OMIM 606989]
—
MPV17
ClinEX Pro
Charcot-Marie-Tooth disease, axonal, type 2EE; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) [OMIM 137960]
—
MPZ
ClinEX Pro
Charcot-Marie-Tooth disease, dominant intermediate D; Charcot-Marie- Tooth disease, type 1B; Charcot-Marie-Tooth disease, type 2I; Charcot- Marie-Tooth disease, type 2J; Dejerine-Sottas disease; Hypomyelinating neuropathy, congenital, 2; Roussy-Levy syndrome [OMIM 159440]
—
MPZL2
ClinEX Pro
Deafness, autosomal recessive 111 [OMIM 604873]
—
MRAP2
ClinEX Pro
{?Obesity, susceptibility to, BMIQ18} [OMIM 615410]
—
MRM2
ClinEX Pro
?Mitochondrial DNA depletion syndrome 17 [OMIM 606906]
—
MRPL12
ClinEX Pro
?Combined oxidative phosphorylation deficiency 45 [OMIM 602375]
—
MRPL3
ClinEX Pro
Combined oxidative phosphorylation deficiency 9 [OMIM 607118]
—
MRPL44
ClinEX Pro
?Combined oxidative phosphorylation deficiency 16 [OMIM 611849]
—
MRPS14
ClinEX Pro
?Combined oxidative phosphorylation deficiency 38 [OMIM 611978]
—
MRPS16
ClinEX Pro
Combined oxidative phosphorylation deficiency 2 [OMIM 609204]
—
MRPS2
ClinEX Pro
Combined oxidative phosphorylation deficiency 36 [OMIM 611971]
—
MRPS22
ClinEX Pro
Combined oxidative phosphorylation deficiency 5; Ovarian dysgenesis 7 [OMIM 605810]
—
MRPS23
ClinEX Pro
?Combined oxidative phosphorylation defiency 46 [OMIM 611985]
—
MRPS25
ClinEX Pro
?Combined oxidative phosphorylation deficiency 50 [OMIM 611987]
—
MRPS28
ClinEX Pro
?Combined oxidative phosphorylation deficiency 47 [OMIM 611990]
—
MRPS34
ClinEX Pro
Combined oxidative phosphorylation deficiency 32 [OMIM 611994]
—
MRPS7
ClinEX Pro
?Combined oxidative phosphorylation deficiency 34 [OMIM 611974]
—
MRTFA
ClinEX Pro
?Immunodeficiency 66 [OMIM 606078]
—
MS4A1
ClinEX Pro
?Immunodeficiency, common variable, 5 [OMIM 112210]
—
MS4A2
ClinEX Pro
{Atopy, susceptibility to} [OMIM 147138]
—
MSH3
ClinEX Pro
Endometrial carcinoma, somatic; Familial adenomatous polyposis 4 [OMIM 600887]
—
MSH5
ClinEX Pro
?Premature ovarian failure 13 [OMIM 603382]
—
MSL3
ClinEX Pro
Basilicata-Akhtar syndrome [OMIM 300609]
—
MSMB
ClinEX Pro
{Prostate cancer, hereditary, 13} [OMIM 157145]
—
MSMO1
ClinEX Pro
Microcephaly, congenital cataract, and psoriasiform dermatitis [OMIM 607545]
—
MSR1
ClinEX Pro
Barrett esophagus/esophageal adenocarcinoma [OMIM 153622]
—
MSRB3
ClinEX Pro
Deafness, autosomal recessive 74 [OMIM 613719]
—
MST1R
ClinEX Pro
{Nasopharyngeal carcinoma, susceptibility to, 3} [OMIM 600168]
—
MSTN
ClinEX Pro
Muscle hypertrophy [OMIM 601788]
—
MSTO1
ClinEX Pro
Myopathy, mitochondrial, and ataxia [OMIM 617619]
—
MSX1
ClinEX Pro
Ectodermal dysplasia 3, Witkop type; Orofacial cleft 5; Tooth agenesis, selective, 1, with or without orofacial cleft [OMIM 142983]
—
MSX2
ClinEX Pro
Craniosynostosis 2; Parietal foramina 1; Parietal foramina with cleidocranial dysplasia [OMIM 123101]
—
MTAP
ClinEX Pro
Diaphyseal medullary stenosis with malignant fibrous histiocytoma [OMIM 156540]
—
MTFMT
ClinEX Pro
Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27 [OMIM 611766]
—
MTHFD1
ClinEX Pro
{Neural tube defects, folate-sensitive, susceptibility to}; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia [OMIM 172460]
—
MTHFS
ClinEX Pro
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination [OMIM 604197]
—
MTMR14
ClinEX Pro
{Centronuclear myopathy, autosomal, modifier of} [OMIM 611089]
—
MTMR2
ClinEX Pro
Charcot-Marie-Tooth disease, type 4B1 [OMIM 603557]
—
MTNR1B
ClinEX Pro
{Diabetes mellitus, type 2, susceptibility to} [OMIM 600804]
—
MTO1
ClinEX Pro
Combined oxidative phosphorylation deficiency 10 [OMIM 614667]
—
MTOR
ClinEX Pro
Focal cortical dysplasia, type II, somatic; Smith-Kingsmore syndrome [OMIM 601231]
—
MTPAP
ClinEX Pro
?Spastic ataxia 4, autosomal recessive [OMIM 613669]
—
MTRFR
ClinEX Pro
Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive [OMIM 613541]
—
MTTP
ClinEX Pro
{Metabolic syndrome, protection against}; Abetalipoproteinemia [OMIM 157147]
—
MTX2
ClinEX Pro
Mandibuloacral dysplasia progeroid syndrome [OMIM 608555]
—
MUC1
ClinEX Pro
Tubulointerstitial kidney disease, autosomal dominant, 2 [OMIM 158340]
—
MUC5B
ClinEX Pro
{Pulmonary fibrosis, idiopathic, susceptibility to} [OMIM 600770]
—
MUC7
ClinEX Pro
{Asthma, protection against} [OMIM 158375]
—
MVD
ClinEX Pro
Porokeratosis 7, multiple types [OMIM 603236]
—
MXI1
ClinEX Pro
Neurofibrosarcoma, somatic; Prostate cancer, somatic [OMIM 600020]
—
MYBPC1
ClinEX Pro
Arthrogryposis, distal, type 1B; Lethal congenital contracture syndrome 4; Myopathy, congenital, with tremor [OMIM 160794]
—
MYCN
ClinEX Pro
Feingold syndrome 1 [OMIM 164840]
—
MYF5
ClinEX Pro
Ophthalmoplegia, external, with rib and vertebral anomalies [OMIM 159990]
—
MYH14
ClinEX Pro
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss; Deafness, autosomal dominant 4A [OMIM 608568]
—
MYH2
ClinEX Pro
Proximal myopathy and ophthalmoplegia [OMIM 160740]
—
MYH3
ClinEX Pro
Arthrogryposis, distal, type 2A (Freeman-Sheldon); Arthrogryposis, distal, type 2B3 (Sheldon-Hall); Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B [OMIM 160720]
—
MYH8
ClinEX Pro
Carney complex variant; Trismus-pseudocamptodactyly syndrome [OMIM 160741]
—
MYH9
ClinEX Pro
Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [OMIM 160775]
—
MYL1
ClinEX Pro
Myopathy, congenital, with fast-twitch (type II) fiber atrophy [OMIM 160780]
—
MYL11
ClinEX Pro
Arthrogryposis, distal, type 1C
—
MYMK
ClinEX Pro
Carey-Fineman-Ziter syndrome [OMIM 615345]
—
MYMX ENSG0
ClinEX Pro
?Carey-Fineman-Ziter syndrome 2 [OMIM 73631892912]
—
MYO15A
ClinEX Pro
Deafness, autosomal recessive 3 [OMIM 602666]
—
MYO18B
ClinEX Pro
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism [OMIM 607295]
—
MYO1E
ClinEX Pro
Glomerulosclerosis, focal segmental, 6 [OMIM 601479]
—
MYO3A
ClinEX Pro
Deafness, autosomal recessive 30 [OMIM 606808]
—
NFS1
ClinEX Pro
Combined oxidative phosphorylation deficiency 52 [OMIM 603485]
—
MYO5B
ClinEX Pro
Microvillus inclusion disease [OMIM 606540]
—
NHLH2
ClinEX Pro
?Hypogonadotropic hypogonadism 27 without anosmia [OMIM 162361]
—
MYO9B
ClinEX Pro
{Celiac disease, susceptibility to, 4} [OMIM 602129]
—
MYOC
ClinEX Pro
Glaucoma 1A, primary open angle [OMIM 601652]
—
MYOCD
ClinEX Pro
Megabladder, congenital [OMIM 606127]
—
MYOD1
ClinEX Pro
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies [OMIM 159970]
—
MYORG
ClinEX Pro
Basal ganglia calcification, idiopathic, 7, autosomal recessive [OMIM 618255]
—
MYOT
ClinEX Pro
Myopathy, myofibrillar, 3; Myopathy, spheroid body [OMIM 604103]
—
MYRF
ClinEX Pro
Cardiac-urogenital syndrome; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization [OMIM 608329]
—
MYT1L
ClinEX Pro
Mental retardation, autosomal dominant 39 [OMIM 613084]
—
NAA10
ClinEX Pro
Microphthalmia, syndromic 1; Ogden syndrome [OMIM 300013]
—
NAA15
ClinEX Pro
Mental retardation, autosomal dominant 50 [OMIM 608000]
—
NAA20
ClinEX Pro
Intellectual developmental disorder, autosomal recessive 73 [OMIM 610833]
—
NACC1
ClinEX Pro
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination [OMIM 610672]
—
NADSYN1
ClinEX Pro
Vertebral, cardiac, renal, and limb defects syndrome 3 [OMIM 608285]
—
NAGA
ClinEX Pro
Kanzaki disease; Schindler disease, type I; Schindler disease, type III [OMIM 104170]
—
NALCN
ClinEX Pro
Congenital contractures of the limbs and face, hypotonia, and developmental delay; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 [OMIM 611549]
—
NANOS1
ClinEX Pro
Spermatogenic failure 12 [OMIM 608226]
—
NANS
ClinEX Pro
Spondyloepimetaphyseal dysplasia, Camera-Genevieve type [OMIM 605202]
—
NARS1
ClinEX Pro
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant [OMIM 108410]
—
NARS2
ClinEX Pro
?Deafness, autosomal recessive 94; Combined oxidative phosphorylation deficiency 24 [OMIM 612803]
—
NAT2
ClinEX Pro
[Acetylation, slow] [OMIM 612182]
—
NAT8L
ClinEX Pro
?N-acetylaspartate deficiency [OMIM 610647]
—
NAXD
ClinEX Pro
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 [OMIM 615910]
—
NAXE
ClinEX Pro
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [OMIM 608862]
—
NBAS
ClinEX Pro
Infantile liver failure syndrome 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly [OMIM 608025]
—
NBEA
ClinEX Pro
Neurodevelopmental disorder with or without early-onset generalized epilepsy [OMIM 604889]
—
NBEAL2
ClinEX Pro
Gray platelet syndrome [OMIM 614169]
—
NCAPD2
ClinEX Pro
?Microcephaly 21, primary, autosomal recessive [OMIM 615638]
—
NCAPD3
ClinEX Pro
Microcephaly 22, primary, autosomal recessive [OMIM 609276]
—
NCAPG2
ClinEX Pro
Khan-Khan-Katsanis syndrome [OMIM 608532]
—
NCAPH
ClinEX Pro
?Microcephaly 23, primary, autosomal recessive [OMIM 602332]
—
NCDN
ClinEX Pro
Neurodevelopmental disorder with infantile epileptic spasms [OMIM 608458]
—
NCKAP1L
ClinEX Pro
Immunodeficiency 72 with autoinflammation [OMIM 141180]
—
NCR3
ClinEX Pro
{Malaria, mild, susceptibility to} [OMIM 611550]
—
NCSTN
ClinEX Pro
Acne inversa, familial, 1 [OMIM 605254]
—
NDE1
ClinEX Pro
?Microhydranencephaly; Lissencephaly 4 (with microcephaly) [OMIM 609449]
—
NDN
ClinEX Pro
Prader-Willi syndrome [OMIM 602117]
—
NDNF
ClinEX Pro
Hypogonadotropic hypogonadism 25 with anosmia [OMIM 616506]
—
NDP
ClinEX Pro
Exudative vitreoretinopathy 2, X-linked; Norrie disease [OMIM 300658]
—
NDRG1
ClinEX Pro
Charcot-Marie-Tooth disease, type 4D [OMIM 605262]
—
NDST1
ClinEX Pro
Mental retardation, autosomal recessive 46 [OMIM 600853]
—
NDUFA1
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 12 [OMIM 300078]
—
NDUFA10
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 22 [OMIM 603835]
—
NDUFA11
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 14 [OMIM 612638]
—
NDUFA12
ClinEX Pro
?Mitochondrial complex I deficiency, nuclear type 23 [OMIM 614530]
—
NDUFA13
ClinEX Pro
?Mitochondrial complex I deficiency, nuclear type 28; {Thyroid carcinoma, Hurthle cell} [OMIM 609435]
—
NDUFA2
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 13 [OMIM 602137]
—
NDUFA4
ClinEX Pro
?Mitochondrial complex IV deficiency, nuclear type 21 [OMIM 603833]
—
NDUFA6
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 33 [OMIM 602138]
—
NDUFA8
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 37 [OMIM 603359]
—
NDUFA9
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 26 [OMIM 603834]
—
NDUFAF1
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 11 [OMIM 606934]
—
NDUFAF2
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 10 [OMIM 609653]
—
NDUFAF3
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 18 [OMIM 612911]
—
NDUFAF4
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 15 [OMIM 611776]
—
NDUFAF5
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 16 [OMIM 612360]
—
NR4A2
ClinEX Pro
ental disorder with language impairment and early-onset DOPA-responsive [OMIM l d6e0v1e8lo2p8m]
—
NDUFAF6
ClinEX Pro
Fanconi renotubular syndrome 5; Mitochondrial complex I deficiency, nuclear type 17 [OMIM 612392]
—
NDUFAF8
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 34 [OMIM 618461]
—
NDUFB10
ClinEX Pro
?Mitochondrial complex I deficiency, nuclear type 35 [OMIM 603843]
—
NRCAM
ClinEX Pro
Neurodevelopmental disorder with neuromuscular and skeletal abnormalitie [OMIM 601581]
—
NDUFB11
ClinEX Pro
?Mitochondrial complex I deficiency, nuclear type 30; Linear skin defects with multiple congenital anomalies 3 [OMIM 300403]
—
NDUFB3
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 25 [OMIM 603839]
—
NDUFB8
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 32 [OMIM 602140]
—
NDUFB9
ClinEX Pro
?Mitochondrial complex I deficiency, nuclear type 24 [OMIM 601445]
—
NDUFC2
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 36 [OMIM 603845]
—
NDUFS1
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 5 [OMIM 157655]
—
NSD2
ClinEX Pro
Rauch-Steindl syndrome [OMIM 602952]
—
NDUFS2
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 6 [OMIM 602985]
—
NDUFS3
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 8 [OMIM 603846]
—
NDUFS4
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 1 [OMIM 602694]
—
NDUFS6
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 9 [OMIM 603848]
—
NDUFS7
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 3 [OMIM 601825]
—
NDUFS8
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 2 [OMIM 602141]
—
NDUFV1
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 4 [OMIM 161015]
—
NDUFV2
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 7 [OMIM 600532]
—
NECAP1
ClinEX Pro
Developmental and epileptic encephalopathy 21 [OMIM 611623]
—
NECTIN1
ClinEX Pro
Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7 [OMIM 600644]
—
NECTIN4
ClinEX Pro
Ectodermal dysplasia-syndactyly syndrome 1 [OMIM 609607]
—
NEDD4L
ClinEX Pro
Periventricular nodular heterotopia 7 [OMIM 606384]
—
NEFH
ClinEX Pro
?{Amyotrophic lateral sclerosis, susceptibility to}; Charcot-Marie-Tooth disease, axonal, type 2CC [OMIM 162230]
—
NEFL
ClinEX Pro
Charcot-Marie-Tooth disease, dominant intermediate G; Charcot-Marie- Tooth disease, type 1F; Charcot-Marie-Tooth disease, type 2E [OMIM 162280]
—
NEK1
ClinEX Pro
{Amyotrophic lateral sclerosis, susceptibility to, 24}; Short-rib thoracic dysplasia 6 with or without polydactyly [OMIM 604588]
—
NEK10
ClinEX Pro
Ciliary dyskinesia, primary, 44 [OMIM 618726]
—
NEK2
ClinEX Pro
?Retinitis pigmentosa 67 [OMIM 604043]
—
NEK8
ClinEX Pro
?Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 [OMIM 609799]
—
NEK9
ClinEX Pro
?Arthrogryposis, Perthes disease, and upward gaze palsy; Lethal congenital contracture syndrome 10; Nevus comedonicus, somatic [OMIM 609798]
—
NEMF
ClinEX Pro
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy [OMIM 608378]
—
NEPRO
ClinEX Pro
Anauxetic dysplasia 3 [OMIM 617089]
—
NEU1
ClinEX Pro
Sialidosis, type I; Sialidosis, type II [OMIM 608272]
—
NEUROD1
ClinEX Pro
{Type 2 diabetes mellitus, susceptibility to}; Maturity-onset diabetes of the young 6 [OMIM 601724]
—
NEUROD2
ClinEX Pro
Developmental and epileptic encephalopathy 72 [OMIM 601725]
—
NEXMIF
ClinEX Pro
Mental retardation, X-linked 98 [OMIM 300524]
—
NFASC
ClinEX Pro
Neurodevelopmental disorder with central and peripheral motor dysfunction [OMIM 609145]
—
NFE2L2
ClinEX Pro
Immunodeficiency, developmental delay, and hypohomocysteinemia [OMIM 600492]
—
OAS1
ClinEX Pro
odeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobul [OMIM 164Im35m0un]
—
NFKB1
ClinEX Pro
Immunodeficiency, common variable, 12 [OMIM 164011]
—
NFKB2
ClinEX Pro
Immunodeficiency, common variable, 10 [OMIM 164012]
—
NFKBIA
ClinEX Pro
Ectodermal dysplasia and immunodeficiency 2 [OMIM 164008]
—
NFKBIL1
ClinEX Pro
{Rheumatoid arthritis, susceptibility to} [OMIM 601022]
—
NFU1
ClinEX Pro
Multiple mitochondrial dysfunctions syndrome 1 [OMIM 608100]
—
NGF
ClinEX Pro
Neuropathy, hereditary sensory and autonomic, type V [OMIM 162030]
—
NGLY1
ClinEX Pro
Congenital disorder of deglycosylation [OMIM 610661]
—
NHLRC1
ClinEX Pro
Epilepsy, progressive myoclonic 2B (Lafora) [OMIM 608072]
—
NHLRC2
ClinEX Pro
FINCA syndrome [OMIM 618277]
—
NHP2
ClinEX Pro
Dyskeratosis congenita, autosomal recessive 2 [OMIM 606470]
—
NHS
ClinEX Pro
Cataract 40, X-linked; Nance-Horan syndrome [OMIM 300457]
—
NIN
ClinEX Pro
?Seckel syndrome 7 [OMIM 608684]
—
NIPA1
ClinEX Pro
Spastic paraplegia 6, autosomal dominant [OMIM 608145]
—
NIPAL4
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 6 [OMIM 609383]
—
NIPBL
ClinEX Pro
Cornelia de Lange syndrome 1 [OMIM 608667]
—
NKAP
ClinEX Pro
Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type [OMIM 300766]
—
NKX2-6
ClinEX Pro
Conotruncal heart malformations; Persistent truncus arteriosus [OMIM 611770]
—
NKX3-2
ClinEX Pro
Spondylo-megaepiphyseal-metaphyseal dysplasia [OMIM 602183]
—
NKX6-2
ClinEX Pro
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy [OMIM 605955]
—
NLGN1
ClinEX Pro
{Autism, susceptibility to, 20} [OMIM 600568]
—
NLGN3
ClinEX Pro
{Asperger syndrome susceptibility, X-linked 1}; {Autism susceptibility, X- linked 1} [OMIM 300336]
—
NLGN4X
ClinEX Pro
{Asperger syndrome susceptibility, X-linked 2}; {Autism susceptibility, X- linked 2}; Mental retardation, X-linked [OMIM 300427]
—
NLRC4
ClinEX Pro
?Familial cold autoinflammatory syndrome 4; Autoinflammation with infantile enterocolitis [OMIM 606831]
—
NLRP1
ClinEX Pro
?Respiratory papillomatosis, juvenile recurrent, congenital; {Vitiligo- associated multiple autoimmune disease susceptibility 1}; Autoinflammation with arthritis and dyskeratosis; Palmoplantar carcinoma, multiple self-healing [OMIM 606636]
—
NLRP12
ClinEX Pro
Familial cold autoinflammatory syndrome 2 [OMIM 609648]
—
NLRP3
ClinEX Pro
CINCA syndrome; Deafness, autosomal dominant 34, with or without inflammation; Familial cold inflammatory syndrome 1; Keratoendothelitis fugax hereditaria; Muckle-Wells syndrome [OMIM 606416]
—
NLRP7
ClinEX Pro
Hydatidiform mole, recurrent, 1 [OMIM 609661]
—
NME8
ClinEX Pro
Ciliary dyskinesia, primary, 6 [OMIM 607421]
—
NMNAT1
ClinEX Pro
Leber congenital amaurosis 9; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis [OMIM 608700]
—
NNMT
ClinEX Pro
Homocysteine plasma level [OMIM 600008]
—
NOBOX
ClinEX Pro
Premature ovarian failure 5 [OMIM 610934]
—
NOD2
ClinEX Pro
{Inflammatory bowel disease 1, Crohn disease}; {Yao syndrome}; Blau syndrome [OMIM 605956]
—
NOG
ClinEX Pro
Brachydactyly, type B2; Multiple synostoses syndrome 1; Stapes ankylosis with broad thumbs and toes; Symphalangism, proximal, 1A; Tarsal-carpal coalition syndrome [OMIM 602991]
—
NOL3
ClinEX Pro
?Myoclonus, familial, 1 [OMIM 605235]
—
NOP10
ClinEX Pro
Dyskeratosis congenita, autosomal recessive 1 [OMIM 606471]
—
NOP56
ClinEX Pro
Spinocerebellar ataxia 36 [OMIM 614154]
—
NOS2
ClinEX Pro
{Malaria, resistance to} [OMIM 163730]
—
NOS3
ClinEX Pro
{Alzheimer disease, late-onset, susceptibility to}; {Coronary artery spasm 1, susceptibility to}; {Hypertension, pregnancy-induced}; {Hypertension, susceptibility to}; {Ischemic stroke, susceptibility to}; {Placental abruption} [OMIM 163729]
—
NOTCH2NLC
ClinEX Pro
Neuronal intranuclear inclusion disease; Tremor, hereditary essential, 6 [OMIM 618025]
—
NOVA2
ClinEX Pro
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities [OMIM 601991]
—
NPC1L1
ClinEX Pro
[Ezetimibe, nonresponse to]; [Low density lipoprotein cholesterol level QTL 7] [OMIM 608010]
—
NPHP1
ClinEX Pro
Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome- 1 [OMIM 607100]
—
NPHP3
ClinEX Pro
Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1 [OMIM 608002]
—
NPHP4
ClinEX Pro
Nephronophthisis 4; Senior-Loken syndrome 4 [OMIM 607215]
—
NPHS1
ClinEX Pro
Nephrotic syndrome, type 1 [OMIM 602716]
—
PAICS
ClinEX Pro
?Phosphoribosylaminoimidazole carboxylase deficiency [OMIM 172439]
—
NPHS2
ClinEX Pro
Nephrotic syndrome, type 2 [OMIM 604766]
—
NPR2
ClinEX Pro
Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, Miura type; Short stature with nonspecific skeletal abnormalities [OMIM 108961]
—
NPR3
ClinEX Pro
?Hypertension, salt-resistant [OMIM 108962]
—
NPRL2
ClinEX Pro
Epilepsy, familial focal, with variable foci 2 [OMIM 607072]
—
NPRL3
ClinEX Pro
Epilepsy, familial focal, with variable foci 3 [OMIM 600928]
—
NPSR1
ClinEX Pro
{Asthma, susceptibility to, 2} [OMIM 608595]
—
NQO1
ClinEX Pro
{Benzene toxicity, susceptibility to}; {Breast cancer, poor survival after chemotherapy for}; {Leukemia, post-chemotherapy, susceptibility to} [OMIM 125860]
—
NQO2
ClinEX Pro
{?Breast cancer susceptibility} [OMIM 160998]
—
NR0B1
ClinEX Pro
46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital [OMIM 300473]
—
NR0B2
ClinEX Pro
Obesity, mild, early-onset [OMIM 604630]
—
NR1H4
ClinEX Pro
Cholestasis, progressive familial intrahepatic, 5 [OMIM 603826]
—
NR2E3
ClinEX Pro
Enhanced S-cone syndrome; Retinitis pigmentosa 37 [OMIM 604485]
—
NR2F1
ClinEX Pro
Bosch-Boonstra-Schaaf optic atrophy syndrome [OMIM 132890]
—
NR2F2
ClinEX Pro
46,XX sex reversal 5; Congenital heart defects, multiple types, 4 [OMIM 107773]
—
NR3C1
ClinEX Pro
Glucocorticoid resistance [OMIM 138040]
—
PBRM1
ClinEX Pro
?Renal cell carcinoma, clear cell [OMIM 606083]
—
NRIP1
ClinEX Pro
?Congenital anomalies of kidney and urinary tract 3 [OMIM 602490]
—
NRL
ClinEX Pro
Retinal degeneration, autosomal recessive, clumped pigment type; Retinitis pigmentosa 27 [OMIM 162080]
—
NRROS
ClinEX Pro
Seizures, early-onset, with neurodegeneration and brain calcification [OMIM 615322]
—
NRXN1
ClinEX Pro
{Schizophrenia, susceptibility to, 17}; Pitt-Hopkins-like syndrome 2 [OMIM 600565]
—
NSD1
ClinEX Pro
Sotos syndrome 1 [OMIM 606681]
—
NSDHL
ClinEX Pro
CHILD syndrome; CK syndrome [OMIM 300275]
—
PCDHGC4
ClinEX Pro
Neurodevelopmental disorder with poor growth and skeletal anomalies [OMIM 606305]
—
NSF
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 3 [OMIM 601633]
—
NSMCE2
ClinEX Pro
Seckel syndrome 10 [OMIM 617246]
—
NSMCE3
ClinEX Pro
Lung disease, immunodeficiency, and chromosome breakage syndrome [OMIM 608243]
—
NSMF
ClinEX Pro
Hypogonadotropic hypogonadism 9 with or without anosmia [OMIM 608137]
—
NSUN2
ClinEX Pro
Mental retardation, autosomal recessive 5 [OMIM 610916]
—
NSUN3
ClinEX Pro
Combined oxidative phosphorylation deficiency 48 [OMIM 617491]
—
NT5C2
ClinEX Pro
Spastic paraplegia 45, autosomal recessive [OMIM 600417]
—
NT5C3A
ClinEX Pro
Anemia, hemolytic, due to UMPH1 deficiency [OMIM 606224]
—
NT5E
ClinEX Pro
Calcification of joints and arteries [OMIM 129190]
—
NTF4
ClinEX Pro
Glaucoma 1, open angle, 1O [OMIM 162662]
—
NTHL1
ClinEX Pro
Familial adenomatous polyposis 3 [OMIM 602656]
—
NTNG2
ClinEX Pro
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia [OMIM 618689]
—
NUAK2
ClinEX Pro
?Anencephaly 2 [OMIM 608131]
—
NUBPL
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 21 [OMIM 613621]
—
NUDT15
ClinEX Pro
{Thiopurines, poor metabolism of, 2} [OMIM 615792]
—
NUDT2
ClinEX Pro
Intellectual developmental disorder with or without peripheral neuropathy [OMIM 602852]
—
NUMA1
ClinEX Pro
Leukemia, acute promyelocytic, somatic [OMIM 164009]
—
NUP107
ClinEX Pro
?Ovarian dysgenesis 6; Galloway-Mowat syndrome 7; Nephrotic syndrome, type 11 [OMIM 607617]
—
NUP133
ClinEX Pro
?Galloway-Mowat syndrome 8; Nephrotic syndrome, type 18 [OMIM 607613]
—
NUP160
ClinEX Pro
?Nephrotic syndrome, type 19 [OMIM 607614]
—
NUP188
ClinEX Pro
Sandestig-Stefanova syndrome [OMIM 615587]
—
NUP205
ClinEX Pro
?Nephrotic syndrome, type 13 [OMIM 614352]
—
NUP37
ClinEX Pro
?Microcephaly 24, primary, autosomal recessive [OMIM 609264]
—
NUP62
ClinEX Pro
Striatonigral degeneration, infantile [OMIM 605815]
—
NUP85
ClinEX Pro
Nephrotic syndrome, type 17 [OMIM 170285]
—
NUP88
ClinEX Pro
Fetal akinesia deformation sequence 4 [OMIM 602552]
—
NUP93
ClinEX Pro
Nephrotic syndrome, type 12 [OMIM 614351]
—
NUS1
ClinEX Pro
?Congenital disorder of glycosylation, type 1aa; Mental retardation, autosomal dominant 55, with seizures [OMIM 610463]
—
NUTM2B-AS1
ClinEX Pro
?Oculopharyngeal myopathy with leukoencephalopathy 1 [OMIM 618639]
—
NXN
ClinEX Pro
Robinow syndrome, autosomal recessive 2 [OMIM 612895]
—
NYX
ClinEX Pro
Night blindness, congenital stationary (complete), 1A, X-linked [OMIM 300278]
—
OBSL1
ClinEX Pro
3-M syndrome 2 [OMIM 610991]
—
OCA2
ClinEX Pro
[Skin/hair/eye pigmentation 1, blond/brown hair]; [Skin/hair/eye pigmentation 1, blue/nonblue eyes]; Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II [OMIM 611409]
—
OCLN
ClinEX Pro
Pseudo-TORCH syndrome 1 [OMIM 602876]
—
OCRL
ClinEX Pro
Dent disease 2; Lowe syndrome [OMIM 300535]
—
ODAD1
ClinEX Pro
Ciliary dyskinesia, primary, 20 [OMIM 615038]
—
ODAD2
ClinEX Pro
Ciliary dyskinesia, primary, 23 [OMIM 615408]
—
ODAD3
ClinEX Pro
Ciliary dyskinesia, primary, 30 [OMIM 615956]
—
ODAD4
ClinEX Pro
Ciliary dyskinesia, primary, 35 [OMIM 617095]
—
ODAPH
ClinEX Pro
Amelogenesis imperfecta, type IIA4 [OMIM 614829]
—
ODC1
ClinEX Pro
Bachmann-Bupp syndrome [OMIM 165640]
—
OFD1
ClinEX Pro
?Retinitis pigmentosa 23; Joubert syndrome 10; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2 [OMIM 300170]
—
OGDH
ClinEX Pro
Alpha-ketoglutarate dehydrogenase deficiency [OMIM 613022]
—
OGDHL
ClinEX Pro
Yoon-Bellen neurodevelopmental syndrome [OMIM 617513]
—
OGG1
ClinEX Pro
Renal cell carcinoma, clear cell, somatic [OMIM 601982]
—
OGT
ClinEX Pro
Mental retardation, X-linked 106 [OMIM 300255]
—
OLR1
ClinEX Pro
{Myocardial infarction, susceptibility to} [OMIM 602601]
—
OPA1
ClinEX Pro
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type); {Glaucoma, normal tension, susceptibility to}; Behr syndrome; Optic atrophy 1; Optic atrophy plus syndrome [OMIM 605290]
—
OPCML
ClinEX Pro
Ovarian cancer, somatic [OMIM 600632]
—
OPHN1
ClinEX Pro
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [OMIM 300127]
—
OPLAH
ClinEX Pro
5-oxoprolinase deficiency [OMIM 614243]
—
OPN1LW
ClinEX Pro
Blue cone monochromacy; Colorblindness, protan [OMIM 300822]
—
OPN1MW
ClinEX Pro
Blue cone monochromacy; Colorblindness, deutan [OMIM 300821]
—
OPN1SW
ClinEX Pro
Colorblindness, tritan [OMIM 613522]
—
OPTN
ClinEX Pro
{Glaucoma, normal tension, susceptibility to}; Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia; Glaucoma 1, open angle, E [OMIM 602432]
—
OR2J3
ClinEX Pro
[C3HEX, ability to smell] [OMIM 615016]
—
ORAI1
ClinEX Pro
Immunodeficiency 9; Myopathy, tubular aggregate, 2 [OMIM 610277]
—
ORC1
ClinEX Pro
Meier-Gorlin syndrome 1 [OMIM 601902]
—
ORC4
ClinEX Pro
Meier-Gorlin syndrome 2 [OMIM 603056]
—
ORC6
ClinEX Pro
Meier-Gorlin syndrome 3 [OMIM 607213]
—
OSBPL2
ClinEX Pro
Deafness, autosomal dominant 67 [OMIM 606731]
—
OSGEP
ClinEX Pro
Galloway-Mowat syndrome 3 [OMIM 610107]
—
OSMR
ClinEX Pro
Amyloidosis, primary localized cutaneous, 1 [OMIM 601743]
—
OSTM1
ClinEX Pro
Osteopetrosis, autosomal recessive 5 [OMIM 607649]
—
OTOA
ClinEX Pro
Deafness, autosomal recessive 22 [OMIM 607038]
—
PHB1
ClinEX Pro
{Breast cancer, susceptibility to}
—
OTOG
ClinEX Pro
Deafness, autosomal recessive 18B [OMIM 604487]
—
OTOGL
ClinEX Pro
Deafness, autosomal recessive 84B [OMIM 614925]
—
OTUD5
ClinEX Pro
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked [OMIM 300713]
—
OTUD6B
ClinEX Pro
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [OMIM 612021]
—
OTULIN
ClinEX Pro
Autoinflammation, panniculitis, and dermatosis syndrome [OMIM 615712]
—
OTX2
ClinEX Pro
Microphthalmia, syndromic 5; Pituitary hormone deficiency, combined, 6; Retinal dystrophy, early-onset, with or without pituitary dysfunction [OMIM 600037]
—
OVOL2
ClinEX Pro
Corneal dystrophy, posterior polymorphous, 1 [OMIM 616441]
—
OXR1
ClinEX Pro
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay [OMIM 605609]
—
P2RX2
ClinEX Pro
Deafness, autosomal dominant 41 [OMIM 600844]
—
P2RY12
ClinEX Pro
Bleeding disorder, platelet-type, 8 [OMIM 600515]
—
P3H1
ClinEX Pro
Osteogenesis imperfecta, type VIII [OMIM 610339]
—
P3H2
ClinEX Pro
Myopia, high, with cataract and vitreoretinal degeneration [OMIM 610341]
—
P4HA2
ClinEX Pro
Myopia 25, autosomal dominant [OMIM 600608]
—
P4HB
ClinEX Pro
Cole-Carpenter syndrome 1 [OMIM 176790]
—
P4HTM
ClinEX Pro
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities [OMIM 614584]
—
PABPN1
ClinEX Pro
Oculopharyngeal muscular dystrophy [OMIM 602279]
—
PACS2
ClinEX Pro
Developmental and epileptic encephalopathy 66 [OMIM 610423]
—
PADI3
ClinEX Pro
Uncombable hair syndrome [OMIM 606755]
—
PADI6
ClinEX Pro
Preimplantation embryonic lethality 2 [OMIM 610363]
—
PAFAH1B1
ClinEX Pro
Lissencephaly 1; Subcortical laminar heterotopia [OMIM 601545]
—
PAK1
ClinEX Pro
Intellectual developmental disorder with macrocephaly, seizures, and speech delay [OMIM 602590]
—
PAK3
ClinEX Pro
Mental retardation, X-linked 30/47 [OMIM 300142]
—
PALLD
ClinEX Pro
{Pancreatic cancer, susceptibility to, 1} [OMIM 608092]
—
PAM16
ClinEX Pro
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type [OMIM 614336]
—
PANK2
ClinEX Pro
HARP syndrome; Neurodegeneration with brain iron accumulation 1 [OMIM 606157]
—
PANK4
ClinEX Pro
?Cataract 49 [OMIM 606162]
—
PANX1
ClinEX Pro
Oocyte maturation defect 7 [OMIM 608420]
—
PAPPA2 ENSG0
ClinEX Pro
Short stature, Dauber-Argente type [OMIM 67661692485]
—
PAPSS2
ClinEX Pro
Brachyolmia 4 with mild epiphyseal and metaphyseal changes [OMIM 603005]
—
PARK7
ClinEX Pro
Parkinson disease 7, autosomal recessive early-onset [OMIM 602533]
—
PARN
ClinEX Pro
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 [OMIM 604212]
—
PARS2
ClinEX Pro
Developmental and epileptic encephalopathy 75 [OMIM 612036]
—
PATL2
ClinEX Pro
Oocyte maturation defect 4 [OMIM 614661]
—
PAX1
ClinEX Pro
Otofaciocervical syndrome 2 [OMIM 167411]
—
PAX2
ClinEX Pro
Glomerulosclerosis, focal segmental, 7; Papillorenal syndrome [OMIM 167409]
—
PIK3CG
ClinEX Pro
Immunodeficiency 97 with autoinflammation [OMIM 601232]
—
PAX4
ClinEX Pro
{Diabetes mellitus, ketosis-prone, susceptibility to}; Diabetes mellitus, type 2; Maturity-onset diabetes of the young, type IX [OMIM 167413]
—
PAX6
ClinEX Pro
?Coloboma of optic nerve; ?Coloboma, ocular; ?Morning glory disc anomaly; Aniridia; Anterior segment dysgenesis 5, multiple subtypes; Cataract with late-onset corneal dystrophy; Foveal hypoplasia 1; Keratitis; Optic nerve hypoplasia [OMIM 607108]
—
PAX9
ClinEX Pro
Tooth agenesis, selective, 3 [OMIM 167416]
—
PITRM1
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 30 [OMIM 618211]
—
PC
ClinEX Pro
Pyruvate carboxylase deficiency [OMIM 608786]
—
PCARE
ClinEX Pro
Retinitis pigmentosa 54 [OMIM 613425]
—
PCDH12
ClinEX Pro
Diencephalic-mesencephalic junction dysplasia syndrome 1 [OMIM 605622]
—
PCDH19
ClinEX Pro
Developmental and epileptic encephalopathy 9 [OMIM 300460]
—
PCGF2
ClinEX Pro
Turnpenny-Fry syndrome [OMIM 600346]
—
PCK1
ClinEX Pro
?Phosphoenolpyruvate carboxykinase deficiency, cytosolic [OMIM 614168]
—
PCK2
ClinEX Pro
PEPCK deficiency, mitochondrial [OMIM 614095]
—
PCLO
ClinEX Pro
?Pontocerebellar hypoplasia, type 3 [OMIM 604918]
—
PCNA
ClinEX Pro
?Ataxia-telangiectasia-like disorder 2 [OMIM 176740]
—
PCNT
ClinEX Pro
Microcephalic osteodysplastic primordial dwarfism, type II [OMIM 605925]
—
PCSK1
ClinEX Pro
{Obesity, susceptibility to, BMIQ12}; Obesity with impaired prohormone processing [OMIM 162150]
—
PCYT1A
ClinEX Pro
Spondylometaphyseal dysplasia with cone-rod dystrophy [OMIM 123695]
—
PCYT2
ClinEX Pro
Spastic paraplegia 82, autosomal recessive [OMIM 602679]
—
PDCD1
ClinEX Pro
{Multiple sclerosis, disease progression, modifier of}; {Systemic lupus erythematosus, susceptibility to, 2} [OMIM 600244]
—
PDCD10
ClinEX Pro
Cerebral cavernous malformations 3 [OMIM 609118]
—
PDE10A
ClinEX Pro
Dyskinesia, limb and orofacial, infantile-onset; Striatal degeneration, autosomal dominant [OMIM 610652]
—
PDE11A
ClinEX Pro
Pigmented nodular adrenocortical disease, primary, 2 [OMIM 604961]
—
PDE1C
ClinEX Pro
?Deafness, autosomal dominant 74 [OMIM 602987]
—
PDE2A
ClinEX Pro
Intellectual developmental disorder with paroxysmal dyskinesia or seizures [OMIM 602658]
—
PDE3A
ClinEX Pro
Hypertension and brachydactyly syndrome [OMIM 123805]
—
PDE4D
ClinEX Pro
Acrodysostosis 2, with or without hormone resistance [OMIM 600129]
—
PDE6A
ClinEX Pro
Retinitis pigmentosa 43 [OMIM 180071]
—
PDE6B
ClinEX Pro
Night blindness, congenital stationary, autosomal dominant 2; Retinitis pigmentosa-40 [OMIM 180072]
—
PDE6C
ClinEX Pro
Cone dystrophy 4 [OMIM 600827]
—
PDE6D
ClinEX Pro
Joubert syndrome 22 [OMIM 602676]
—
PDE6G
ClinEX Pro
Retinitis pigmentosa 57 [OMIM 180073]
—
PDE6H
ClinEX Pro
Achromatopsia 6; Retinal cone dystrophy 3 [OMIM 601190]
—
PDGFRL
ClinEX Pro
Colorectal cancer, somatic; Hepatocellular cancer, somatic [OMIM 604584]
—
PDHA2
ClinEX Pro
Spermatogenic failure 70 [OMIM 179061]
—
PDK3
ClinEX Pro
?Charcot-Marie-Tooth disease, X-linked dominant, 6 [OMIM 300906]
—
PDLIM4
ClinEX Pro
{Osteoporosis, susceptibility to} [OMIM 603422]
—
PDP1
ClinEX Pro
Pyruvate dehydrogenase phosphatase deficiency [OMIM 605993]
—
PDX1
ClinEX Pro
{Diabetes mellitus, type II, susceptibility to}; MODY, type IV; Pancreatic agenesis 1 [OMIM 600733]
—
PDXK
ClinEX Pro
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy [OMIM 179020]
—
PDYN
ClinEX Pro
Spinocerebellar ataxia 23 [OMIM 131340]
—
PDZD7
ClinEX Pro
{Retinal disease in Usher syndrome type IIA, modifier of}; Deafness, autosomal recessive 57; Usher syndrome, type IIC, GPR98/PDZD7 digenic [OMIM 612971]
—
PEPD
ClinEX Pro
Prolidase deficiency [OMIM 613230]
—
PER2
ClinEX Pro
?Advanced sleep phase syndrome, familial, 1 [OMIM 603426]
—
PER3
ClinEX Pro
?Advanced sleep phase syndrome, familial, 3 [OMIM 603427]
—
PERCC1
ClinEX Pro
Diarrhea 11, malabsorptive, congenital [OMIM 618656]
—
PERP
ClinEX Pro
Erythrokeratodermia variabilis et progressiva 7; Olmsted syndrome 2 [OMIM 609301]
—
PET100
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 12 [OMIM 614770]
—
PET117
ClinEX Pro
?Mitochondrial complex IV deficiency, nuclear type 19 [OMIM 614771]
—
PEX10
ClinEX Pro
Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B [OMIM 602859]
—
PEX11B
ClinEX Pro
Peroxisome biogenesis disorder 14B [OMIM 603867]
—
PEX12
ClinEX Pro
Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B [OMIM 601758]
—
PEX13
ClinEX Pro
Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B [OMIM 601789]
—
PEX14
ClinEX Pro
Peroxisome biogenesis disorder 13A (Zellweger) [OMIM 601791]
—
PEX16
ClinEX Pro
Peroxisome biogenesis disorder 8A (Zellweger); Peroxisome biogenesis disorder 8B [OMIM 603360]
—
PEX19
ClinEX Pro
Peroxisome biogenesis disorder 12A (Zellweger) [OMIM 600279]
—
PEX2
ClinEX Pro
Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B [OMIM 170993]
—
PEX26
ClinEX Pro
Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B [OMIM 608666]
—
PEX3
ClinEX Pro
?Peroxisome biogenesis disorder 10B; Peroxisome biogenesis disorder 10A (Zellweger) [OMIM 603164]
—
PEX5
ClinEX Pro
Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5 [OMIM 600414]
—
PEX6
ClinEX Pro
Heimler syndrome 2; Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B [OMIM 601498]
—
PEX7
ClinEX Pro
Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1 [OMIM 601757]
—
PFKL
ClinEX Pro
Hemolytic anemia due to phosphofructokinase deficiency [OMIM 171860]
—
PFKM
ClinEX Pro
Glycogen storage disease VII [OMIM 610681]
—
PFN1
ClinEX Pro
Amyotrophic lateral sclerosis 18 [OMIM 176610]
—
PGAM2
ClinEX Pro
Glycogen storage disease X [OMIM 612931]
—
PGAP1
ClinEX Pro
Mental retardation, autosomal recessive 42 [OMIM 611655]
—
PGAP2
ClinEX Pro
Hyperphosphatasia with mental retardation syndrome 3 [OMIM 615187]
—
PGAP3
ClinEX Pro
Hyperphosphatasia with mental retardation syndrome 4 [OMIM 611801]
—
PGK1
ClinEX Pro
Phosphoglycerate kinase 1 deficiency [OMIM 311800]
—
PGR
ClinEX Pro
?Progesterone resistance [OMIM 607311]
—
PHACTR1
ClinEX Pro
Developmental and epileptic encephalopathy 70 [OMIM 608723]
—
PHC1
ClinEX Pro
?Microcephaly 11, primary, autosomal recessive [OMIM 602978]
—
POLRMT
ClinEX Pro
Combined oxidative phosphorylation deficiency 55 [OMIM 601778]
—
PHF21A
ClinEX Pro
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures [OMIM 608325]
—
PHF8
ClinEX Pro
Mental retardation syndrome, X-linked, Siderius type [OMIM 300560]
—
PHIP
ClinEX Pro
Chung-Jansen syndrome [OMIM 612870]
—
PHOX2A
ClinEX Pro
Fibrosis of extraocular muscles, congenital, 2 [OMIM 602753]
—
PHOX2B
ClinEX Pro
{Neuroblastoma, susceptibility to, 2}; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease; Neuroblastoma with Hirschsprung disease [OMIM 603851]
—
PHYH
ClinEX Pro
Refsum disease [OMIM 602026]
—
PHYKPL
ClinEX Pro
[?Phosphohydroxylysinuria] [OMIM 614683]
—
PI4KA
ClinEX Pro
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [OMIM 600286]
—
PIBF1
ClinEX Pro
Joubert syndrome 33 [OMIM 607532]
—
PIDD1
ClinEX Pro
mental disorder, autosomal recessive 75, with neuropsychiatric features and [OMIM al 6d0e5v2e4lo7p]
—
PIEZO1
ClinEX Pro
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 [OMIM 611184]
—
PIEZO2
ClinEX Pro
?Marden-Walker syndrome; Arthrogryposis, distal, type 3; Arthrogryposis, distal, type 5; Arthrogryposis, distal, with impaired proprioception and touch [OMIM 613629]
—
PIGB
ClinEX Pro
Developmental and epileptic encephalopathy 80 [OMIM 604122]
—
PIGC
ClinEX Pro
Glycosylphosphatidylinositol biosynthesis defect 16 [OMIM 601730]
—
PIGF
ClinEX Pro
ystrophy, osteodystrophy, impaired intellectual development, and seizures s [OMIM 6O0n0y1c5h3od]
—
PIGG
ClinEX Pro
Mental retardation, autosomal recessive 53 [OMIM 616918]
—
PIGH
ClinEX Pro
Glycosylphosphatidylinositol biosynthesis defect 17 [OMIM 600154]
—
PIGK
ClinEX Pro
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures [OMIM 605087]
—
PIGL
ClinEX Pro
CHIME syndrome [OMIM 605947]
—
PIGM
ClinEX Pro
Glycosylphosphatidylinositol deficiency [OMIM 610273]
—
PIGN
ClinEX Pro
Multiple congenital anomalies-hypotonia-seizures syndrome 1 [OMIM 606097]
—
PIGO
ClinEX Pro
Hyperphosphatasia with mental retardation syndrome 2 [OMIM 614730]
—
PIGP
ClinEX Pro
Developmental and epileptic encephalopathy 55 [OMIM 605938]
—
PIGQ
ClinEX Pro
Developmental and epileptic encephalopathy 77 [OMIM 605754]
—
PPP1R21
ClinEX Pro
evelopmental disorder with hypotonia, facial dysmorphism, and brain abnor [OMIM 61N8e1u5r9od]
—
PIGS
ClinEX Pro
Glycosylphosphatidylinositol biosynthesis defect 18 [OMIM 610271]
—
PIGT
ClinEX Pro
?Paroxysmal nocturnal hemoglobinuria 2; Multiple congenital anomalies- hypotonia-seizures syndrome 3 [OMIM 610272]
—
PIGU
ClinEX Pro
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis [OMIM 608528]
—
PIGV
ClinEX Pro
Hyperphosphatasia with mental retardation syndrome 1 [OMIM 610274]
—
PIGW
ClinEX Pro
Glycosylphosphatidylinositol biosynthesis defect 11 [OMIM 610275]
—
PIGY
ClinEX Pro
Hyperphosphatasia with mental retardation syndrome 6 [OMIM 610662]
—
PIK3C2A
ClinEX Pro
Oculoskeletodental syndrome [OMIM 603601]
—
PIK3CD
ClinEX Pro
Immunodeficiency 14 [OMIM 602839]
—
PIK3R2
ClinEX Pro
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [OMIM 603157]
—
PIK3R5
ClinEX Pro
Ataxia-oculomotor apraxia 3 [OMIM 611317]
—
PIKFYVE
ClinEX Pro
Corneal fleck dystrophy [OMIM 609414]
—
PINK1
ClinEX Pro
Parkinson disease 6, early onset [OMIM 608309]
—
PIP5K1C
ClinEX Pro
Lethal congenital contractural syndrome 3 [OMIM 606102]
—
PISD
ClinEX Pro
Liberfarb syndrome [OMIM 612770]
—
PITPNM3
ClinEX Pro
Cone-rod dystrophy 5 [OMIM 608921]
—
PRDX3
ClinEX Pro
Corneal dystrophy, punctiform and polychromatic pre-Descemet [OMIM 604769]
—
PITX1
ClinEX Pro
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly; Liebenberg syndrome [OMIM 602149]
—
PITX2
ClinEX Pro
Anterior segment dysgenesis 4; Axenfeld-Rieger syndrome, type 1; Ring dermoid of cornea [OMIM 601542]
—
PITX3
ClinEX Pro
Anterior segment dysgenesis 1, multiple subtypes; Cataract 11, multiple types; Cataract 11, syndromic, autosomal recessive [OMIM 602669]
—
PKDCC
ClinEX Pro
Rhizomelic limb shortening with dysmorphic features [OMIM 614150]
—
PKP1
ClinEX Pro
Ectodermal dysplasia/skin fragility syndrome [OMIM 601975]
—
PRKAR1B
ClinEX Pro
Marbach-Schaaf neurodevelopmental syndrome [OMIM 176911]
—
PLA2G2A
ClinEX Pro
{?Colorectal cancer, susceptibility to} [OMIM 172411]
—
PLA2G4A
ClinEX Pro
Gastrointestinal ulceration, recurrent, with dysfunctional platelets [OMIM 600522]
—
PLA2G5
ClinEX Pro
[Fleck retina, familial benign] [OMIM 601192]
—
PLA2G6
ClinEX Pro
Infantile neuroaxonal dystrophy 1; Neurodegeneration with brain iron accumulation 2B; Parkinson disease 14, autosomal recessive [OMIM 603604]
—
PLA2G7
ClinEX Pro
{Asthma, susceptibility to}; {Atopy, susceptibility to}; Platelet-activating factor acetylhydrolase deficiency [OMIM 601690]
—
PLAA
ClinEX Pro
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies [OMIM 603873]
—
PRKG2
ClinEX Pro
Acromesomelic dysplasia 4 [OMIM 601591]
—
PLAT
ClinEX Pro
Hyperfibrinolysis, familial, due to increased release of PLAT; Thrombophilia, familial, due to decreased release of PLAT [OMIM 173370]
—
PLAU
ClinEX Pro
{Alzheimer disease, late-onset, susceptibility to}; Quebec platelet disorder [OMIM 191840]
—
PLCB1
ClinEX Pro
Developmental and epileptic encephalopathy 12 [OMIM 607120]
—
PLCB2
ClinEX Pro
Platelet PLC beta-2 deficiency [OMIM 604114]
—
PLCB3
ClinEX Pro
Spondylometaphyseal dysplasia with corneal dystrophy [OMIM 600230]
—
PLCB4
ClinEX Pro
Auriculocondylar syndrome 2 [OMIM 600810]
—
PLCD1
ClinEX Pro
Nail disorder, nonsyndromic congenital, 3, (leukonychia) [OMIM 602142]
—
PLCE1
ClinEX Pro
Nephrotic syndrome, type 3 [OMIM 608414]
—
PLCH1
ClinEX Pro
Holoprosencephaly 14 [OMIM 612835]
—
PLCZ1
ClinEX Pro
Spermatogenic failure 17 [OMIM 608075]
—
PLD1
ClinEX Pro
Cardiac valvular defect, developmental [OMIM 602382]
—
PLD3
ClinEX Pro
?Spinocerebellar ataxia 46 [OMIM 615698]
—
PLEC
ClinEX Pro
?Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Muscular dystrophy, limb-girdle, autosomal recessive 17 [OMIM 601282]
—
PLEKHG2
ClinEX Pro
Leukodystrophy and acquired microcephaly with or without dystonia [OMIM 611893]
—
PLEKHG5
ClinEX Pro
Charcot-Marie-Tooth disease, recessive intermediate C; Spinal muscular atrophy, distal, autosomal recessive, 4 [OMIM 611101]
—
PLEKHM1
ClinEX Pro
?Osteopetrosis, autosomal recessive 6; Osteopetrosis, autosomal dominant 3 [OMIM 611466]
—
PLG
ClinEX Pro
Dysplasminogenemia; Plasminogen deficiency, type I [OMIM 173350]
—
PLIN1
ClinEX Pro
Lipodystrophy, familial partial, type 4 [OMIM 170290]
—
PLK4
ClinEX Pro
Microcephaly and chorioretinopathy, autosomal recessive, 2 [OMIM 605031]
—
PLOD1
ClinEX Pro
Ehlers-Danlos syndrome, kyphoscoliotic type, 1 [OMIM 153454]
—
PLOD2
ClinEX Pro
Bruck syndrome 2 [OMIM 601865]
—
PLOD3
ClinEX Pro
Lysyl hydroxylase 3 deficiency [OMIM 603066]
—
PLP1
ClinEX Pro
Pelizaeus-Merzbacher disease; Spastic paraplegia 2, X-linked [OMIM 300401]
—
PLS1
ClinEX Pro
Deafness, autosomal dominant 76 [OMIM 602734]
—
PLS3
ClinEX Pro
Bone mineral density QTL18, osteoporosis [OMIM 300131]
—
PLTP
ClinEX Pro
[High density lipoprotein cholesterol level QTL 9] [OMIM 172425]
—
PLVAP
ClinEX Pro
Diarrhea 10, protein-losing enteropathy type [OMIM 607647]
—
PMFBP1
ClinEX Pro
Spermatogenic failure 31 [OMIM 618085]
—
PMP2
ClinEX Pro
Charcot-Marie-Tooth disease, demyelinating, type 1G [OMIM 170715]
—
PMP22
ClinEX Pro
?Neuropathy, inflammatory demyelinating; Charcot-Marie-Tooth disease, type 1A; Charcot-Marie-Tooth disease, type 1E; Dejerine-Sottas disease; Neuropathy, recurrent, with pressure palsies; Roussy-Levy syndrome [OMIM 601097]
—
PMPCA
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 2 [OMIM 613036]
—
PMPCB
ClinEX Pro
Multiple mitochondrial dysfunctions syndrome 6 [OMIM 603131]
—
PMVK
ClinEX Pro
Porokeratosis 1, multiple types [OMIM 607622]
—
PSMC3
ClinEX Pro
?Deafness, cataract, impaired intellectual development, and polyneuropathy [OMIM 186852]
—
PNKD
ClinEX Pro
Paroxysmal nonkinesigenic dyskinesia 1 [OMIM 609023]
—
PNKP
ClinEX Pro
?Charcot-Marie-Tooth disease, type 2B2; Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay [OMIM 605610]
—
PNLDC1 ENSG0
ClinEX Pro
Spermatogenic failure 57 [OMIM 92611697529]
—
PNLIP
ClinEX Pro
?Pancreatic lipase deficiency [OMIM 246600]
—
PNP
ClinEX Pro
Immunodeficiency due to purine nucleoside phosphorylase deficiency [OMIM 164050]
—
PNPLA1
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 10 [OMIM 612121]
—
PNPLA2
ClinEX Pro
Neutral lipid storage disease with myopathy [OMIM 609059]
—
PNPLA6
ClinEX Pro
?Laurence-Moon syndrome; Boucher-Neuhauser syndrome; Oliver- McFarlane syndrome; Spastic paraplegia 39, autosomal recessive [OMIM 603197]
—
PNPLA8
ClinEX Pro
?Mitochondrial myopathy with lactic acidosis [OMIM 612123]
—
PNPT1
ClinEX Pro
Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70 [OMIM 610316]
—
POC1A
ClinEX Pro
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis [OMIM 614783]
—
POC1B
ClinEX Pro
Cone-rod dystrophy 20 [OMIM 614784]
—
POF1B
ClinEX Pro
?Premature ovarian failure 2B [OMIM 300603]
—
POFUT1
ClinEX Pro
Dowling-Degos disease 2 [OMIM 607491]
—
POGLUT1
ClinEX Pro
?Muscular dystrophy, limb-girdle, autosomal recessive 21; Dowling-Degos disease 4 [OMIM 615618]
—
POGZ
ClinEX Pro
White-Sutton syndrome [OMIM 614787]
—
POLA1
ClinEX Pro
Pigmentary disorder, reticulate, with systemic manifestations, X-linked; Van Esch-O'Driscoll syndrome [OMIM 312040]
—
POLD1
ClinEX Pro
{Colorectal cancer, susceptibility to, 10}; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome [OMIM 174761]
—
POLG
ClinEX Pro
Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1 [OMIM 174763]
—
POLG2
ClinEX Pro
Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 [OMIM 604983]
—
POLH
ClinEX Pro
Xeroderma pigmentosum, variant type [OMIM 603968]
—
POLR1A
ClinEX Pro
Acrofacial dysostosis, Cincinnati type [OMIM 616404]
—
POLR1B
ClinEX Pro
Treacher-Collins syndrome 4 [OMIM 602000]
—
POLR1C
ClinEX Pro
Leukodystrophy, hypomyelinating, 11; Treacher Collins syndrome 3 [OMIM 610060]
—
POLR1D
ClinEX Pro
Treacher Collins syndrome 2 [OMIM 613715]
—
POLR2A
ClinEX Pro
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities [OMIM 180660]
—
POLR3A
ClinEX Pro
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Wiedemann-Rautenstrauch syndrome [OMIM 614258]
—
POLR3B
ClinEX Pro
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM 614366]
—
POLR3F
ClinEX Pro
?Immunodeficiency 101 (varicella zoster virus-specific) [OMIM 617455]
—
POLR3GL
ClinEX Pro
Short stature, oligodontia, dysmorphic facies, and motor delay [OMIM 617457]
—
POLR3K
ClinEX Pro
Leukodystrophy, hypomyelinating, 21 [OMIM 606007]
—
POMGNT1
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 3; Retinitis pigmentosa 76 [OMIM 606822]
—
POMGNT2
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 [OMIM 614828]
—
POMK
ClinEX Pro
?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 [OMIM 615247]
—
POMP
ClinEX Pro
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; Proteasome-associated autoinflammatory syndrome 2 [OMIM 613386]
—
POMT1
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 1 [OMIM 607423]
—
POMT2
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 2 [OMIM 607439]
—
PON1
ClinEX Pro
{Coronary artery disease, susceptibility to}; {Coronary artery spasm 2, susceptibility to; {Microvascular complications of diabetes 5}; {Organophosphate poisoning, sensitivity to} [OMIM 168820]
—
PON2
ClinEX Pro
{Coronary artery disease, susceptibility to} [OMIM 602447]
—
POP1
ClinEX Pro
Anauxetic dysplasia 2 [OMIM 602486]
—
POPDC3
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal recessive 26 [OMIM 605824]
—
PORCN
ClinEX Pro
Focal dermal hypoplasia [OMIM 300651]
—
POU3F3
ClinEX Pro
Snijders Blok-Fisher syndrome [OMIM 602480]
—
POU3F4
ClinEX Pro
Deafness, X-linked 2 [OMIM 300039]
—
POU4F1
ClinEX Pro
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset [OMIM 601632]
—
POU4F3
ClinEX Pro
Deafness, autosomal dominant 15 [OMIM 602460]
—
POU6F2
ClinEX Pro
{Wilms tumor susceptibility-5} [OMIM 609062]
—
PPA2
ClinEX Pro
?Sudden cardiac failure, alcohol-induced; Sudden cardiac failure, infantile [OMIM 609988]
—
PPARA
ClinEX Pro
{Hyperapobetalipoproteinemia, susceptibility to} [OMIM 170998]
—
PPCS
ClinEX Pro
Cardiomyopathy, dilated, 2C [OMIM 609853]
—
PPIB
ClinEX Pro
Osteogenesis imperfecta, type IX [OMIM 123841]
—
PPIL1
ClinEX Pro
Pontocerebellar hypoplasia, type 14 [OMIM 601301]
—
PPIP5K2
ClinEX Pro
Deafness, autosomal recessive 100 [OMIM 611648]
—
RACGAP1
ClinEX Pro
?Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive [OMIM 604980]
—
PPM1K
ClinEX Pro
?Maple syrup urine disease, mild variant [OMIM 611065]
—
PPOX
ClinEX Pro
Porphyria variegata [OMIM 600923]
—
PPP1R12A
ClinEX Pro
Genitourinary and/or/brain malformation syndrome [OMIM 602021]
—
PPP1R15B
ClinEX Pro
Microcephaly, short stature, and impaired glucose metabolism 2 [OMIM 613257]
—
PPP1R17
ClinEX Pro
{Hypercholesterolemia, susceptibility to} [OMIM 604088]
—
PPP1R3A
ClinEX Pro
Insulin resistance, severe, digenic [OMIM 600917]
—
PPP2CA
ClinEX Pro
Neurodevelopmental disorder and language delay with or without structural brain abnormalities [OMIM 176915]
—
PPP2R1A
ClinEX Pro
Mental retardation, autosomal dominant 36 [OMIM 605983]
—
PPP2R1B
ClinEX Pro
Lung cancer, somatic [OMIM 603113]
—
PPP2R2B
ClinEX Pro
Spinocerebellar ataxia 12 [OMIM 604325]
—
PPP2R3C
ClinEX Pro
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy; Spermatogenic failure 36 [OMIM 615902]
—
PPP2R5D
ClinEX Pro
Mental retardation, autosomal dominant 35 [OMIM 601646]
—
PPP3CA
ClinEX Pro
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development; Developmental and epileptic encephalopathy 91 [OMIM 114105]
—
PPT1
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 1 [OMIM 600722]
—
PQBP1
ClinEX Pro
Renpenning syndrome [OMIM 300463]
—
PRCD
ClinEX Pro
Retinitis pigmentosa 36 [OMIM 610598]
—
PRDM12
ClinEX Pro
Neuropathy, hereditary sensory and autonomic, type VIII [OMIM 616458]
—
PRDM13
ClinEX Pro
dysfunction, impaired intellectual development, and hypogonadotropic hyp [OMIM C6e1re6b7e4l1lar]
—
PRDM5
ClinEX Pro
Brittle cornea syndrome 2 [OMIM 614161]
—
PRDM6
ClinEX Pro
Patent ductus arteriosus 3 [OMIM 616982]
—
PRDM8
ClinEX Pro
?Epilepsy, progressive myoclonic, 10 [OMIM 616639]
—
PRDX1
ClinEX Pro
Methylmalonic aciduria and homocystinuria, cblC type, digenic [OMIM 176763]
—
RBL2
ClinEX Pro
Brunet-Wagner neurodevelopmental syndrome [OMIM 180203]
—
PRG4
ClinEX Pro
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [OMIM 604283]
—
PRICKLE1
ClinEX Pro
Epilepsy, progressive myoclonic 1B [OMIM 608500]
—
PRICKLE3
ClinEX Pro
{Leber hereditary optic neuropathy, modifier of} [OMIM 300111]
—
PRIMPOL
ClinEX Pro
Myopia 22, autosomal dominant [OMIM 615421]
—
PRKACB
ClinEX Pro
Cardioacrofacial dysplasia 2 [OMIM 176892]
—
PRKACG
ClinEX Pro
?Bleeding disorder, platelet-type, 19 [OMIM 176893]
—
PRKAG3
ClinEX Pro
[Skeletal muscle glycogen content and metabolism QTL] [OMIM 604976]
—
PRKCA
ClinEX Pro
Pituitary tumor, invasive [OMIM 176960]
—
PRKCD
ClinEX Pro
Autoimmune lymphoproliferative syndrome, type III [OMIM 176977]
—
PRKCG
ClinEX Pro
Spinocerebellar ataxia 14 [OMIM 176980]
—
PRKCH
ClinEX Pro
{Cerebral infarction, susceptibility to} [OMIM 605437]
—
PRKCSH
ClinEX Pro
Polycystic liver disease 1 [OMIM 177060]
—
PRKD1
ClinEX Pro
Congenital heart defects and ectodermal dysplasia [OMIM 605435]
—
PRKN
ClinEX Pro
Adenocarcinoma of lung, somatic; Ovarian cancer, somatic; Parkinson disease, juvenile, type 2 [OMIM 602544]
—
PRKRA
ClinEX Pro
Dystonia 16 [OMIM 603424]
—
PRLR
ClinEX Pro
Hyperprolactinemia; Multiple fibroadenomas of the breast [OMIM 176761]
—
PRMT7
ClinEX Pro
Short stature, brachydactyly, intellectual developmental disability, and seizures [OMIM 610087]
—
PRNP
ClinEX Pro
{Kuru, susceptibility to}; Cerebral amyloid angiopathy, PRNP- related; Creutzfeldt-Jakob disease; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial; Spongiform encephalopathy with neuropsychiatric features [OMIM 176640]
—
PROC
ClinEX Pro
Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive [OMIM 612283]
—
PRODH
ClinEX Pro
{Schizophrenia, susceptibility to, 4}; Hyperprolinemia, type I [OMIM 606810]
—
PROK2
ClinEX Pro
Hypogonadotropic hypogonadism 4 with or without anosmia [OMIM 607002]
—
PROKR2
ClinEX Pro
Hypogonadotropic hypogonadism 3 with or without anosmia [OMIM 607123]
—
PROM1
ClinEX Pro
Cone-rod dystrophy 12; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Stargardt disease 4 [OMIM 604365]
—
PRORP
ClinEX Pro
Combined oxidative phosphorylation deficiency 54 [OMIM 609947]
—
PROS1
ClinEX Pro
Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive [OMIM 176880]
—
PROZ
ClinEX Pro
[Protein Z deficiency] [OMIM 176895]
—
PRPF3
ClinEX Pro
Retinitis pigmentosa 18 [OMIM 607301]
—
PRPF31
ClinEX Pro
Retinitis pigmentosa 11 [OMIM 606419]
—
PRPF4
ClinEX Pro
Retinitis pigmentosa 70 [OMIM 607795]
—
PRPF6
ClinEX Pro
Retinitis pigmentosa 60 [OMIM 613979]
—
PRPF8
ClinEX Pro
Retinitis pigmentosa 13 [OMIM 607300]
—
PRPH
ClinEX Pro
{Amyotrophic lateral sclerosis, susceptibility to} [OMIM 170710]
—
PRPH2
ClinEX Pro
Choroidal dystrophy, central areolar 2; Leber congenital amaurosis 18; Macular dystrophy, patterned, 1; Macular dystrophy, vitelliform, 3; Retinitis pigmentosa 7 and digenic form; Retinitis punctata albescens [OMIM 179605]
—
PRPS1
ClinEX Pro
Arts syndrome; Charcot-Marie-Tooth disease, X-linked recessive, 5; Deafness, X-linked 1; Gout, PRPS-related; Phosphoribosylpyrophosphate synthetase superactivity [OMIM 311850]
—
PRR12
ClinEX Pro
Neuroocular syndrome [OMIM 616633]
—
PRRT2
ClinEX Pro
Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2 [OMIM 614386]
—
PRRX1
ClinEX Pro
Agnathia-otocephaly complex [OMIM 167420]
—
PRSS1
ClinEX Pro
Pancreatitis, hereditary [OMIM 276000]
—
PRSS12
ClinEX Pro
Mental retardation, autosomal recessive 1 [OMIM 606709]
—
PRSS2
ClinEX Pro
{Pancreatitis, chronic, protection against} [OMIM 601564]
—
PRSS56
ClinEX Pro
Microphthalmia, isolated 6 [OMIM 613858]
—
PRUNE1
ClinEX Pro
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies [OMIM 617413]
—
PRX
ClinEX Pro
Charcot-Marie-Tooth disease, type 4F; Dejerine-Sottas disease [OMIM 605725]
—
PSENEN
ClinEX Pro
Acne inversa, familial, 2, with or without Dowling-Degos disease [OMIM 607632]
—
PSMA6
ClinEX Pro
{Myocardial infarction, susceptibility to} [OMIM 602855]
—
PSMB10
ClinEX Pro
Proteasome-associated autoinflammatory syndrome 5 [OMIM 176847]
—
PSMB4
ClinEX Pro
?Proteasome-associated autoinflammatory syndrome 3 and digenic forms [OMIM 602177]
—
PSMB8
ClinEX Pro
Proteasome-associated autoinflammatory syndrome 1 and digenic forms [OMIM 177046]
—
PSMB9
ClinEX Pro
?Proteasome-associated autoinflammatory syndrome 3, digenic [OMIM 177045]
—
PSMC3IP
ClinEX Pro
Ovarian dysgenesis 3 [OMIM 608665]
—
PSMD12
ClinEX Pro
Stankiewicz-Isidor syndrome [OMIM 604450]
—
PSMG2
ClinEX Pro
?Proteasome-associated autoinflammatory syndrome 4 [OMIM 609702]
—
PSTPIP1
ClinEX Pro
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne [OMIM 606347]
—
PTCD3
ClinEX Pro
?Combined oxidative phosphorylation deficiency 51 [OMIM 614918]
—
PTCH2
ClinEX Pro
Basal cell carcinoma, somatic; Basal cell nevus syndrome; Medulloblastoma, somatic [OMIM 603673]
—
PTCHD1
ClinEX Pro
{Autism, susceptibility to, X-linked 4} [OMIM 300828]
—
PTDSS1
ClinEX Pro
Lenz-Majewski hyperostotic dwarfism [OMIM 612792]
—
PTGDR
ClinEX Pro
{Asthma, susceptibility to, 1} [OMIM 604687]
—
PTGER2
ClinEX Pro
{Asthma, aspirin-induced, susceptibility to} [OMIM 176804]
—
PTGIS
ClinEX Pro
Hypertension, essential [OMIM 601699]
—
PTH
ClinEX Pro
Hypoparathyroidism, familial isolated 1 [OMIM 168450]
—
RNF2
ClinEX Pro
Luo-Schoch-Yamamoto syndrome [OMIM 608985]
—
PTH1R
ClinEX Pro
Chondrodysplasia, Blomstrand type; Eiken syndrome; Failure of tooth eruption, primary; Metaphyseal chondrodysplasia, Murk Jansen type [OMIM 168468]
—
PTHLH
ClinEX Pro
Brachydactyly, type E2 [OMIM 168470]
—
PTPN1
ClinEX Pro
{Insulin resistance, susceptibility to} [OMIM 176885]
—
PTPN12
ClinEX Pro
Colon cancer, somatic [OMIM 600079]
—
PTPN14
ClinEX Pro
Choanal atresia and lymphedema [OMIM 603155]
—
PTPN22
ClinEX Pro
{Diabetes, type 1, susceptibility to}; {Rheumatoid arthritis, susceptibility to}; {Systemic lupus erythematosus susceptibility to} [OMIM 600716]
—
PTPN23
ClinEX Pro
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity [OMIM 606584]
—
PTPRC
ClinEX Pro
{Hepatitis C virus, susceptibility to}; Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive [OMIM 151460]
—
PTPRF
ClinEX Pro
?Breasts and/or nipples, aplasia or hypoplasia of, 2 [OMIM 179590]
—
PTPRJ
ClinEX Pro
Colon cancer, somatic [OMIM 600925]
—
PTPRO
ClinEX Pro
Nephrotic syndrome, type 6 [OMIM 600579]
—
PTPRQ
ClinEX Pro
Deafness, autosomal dominant 73; Deafness, autosomal recessive 84A [OMIM 603317]
—
PTRH2
ClinEX Pro
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease [OMIM 608625]
—
PUF60
ClinEX Pro
Verheij syndrome [OMIM 604819]
—
PUM1
ClinEX Pro
Spinocerebellar ataxia 47 [OMIM 607204]
—
PURA
ClinEX Pro
Mental retardation, autosomal dominant 31 [OMIM 600473]
—
PUS1
ClinEX Pro
Myopathy, lactic acidosis, and sideroblastic anemia 1 [OMIM 608109]
—
PUS3
ClinEX Pro
Neurodevelopmental disorder with microcephaly and gray sclerae [OMIM 616283]
—
PUS7
ClinEX Pro
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature [OMIM 616261]
—
RPA1
ClinEX Pro
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 [OMIM 179835]
—
PXDN
ClinEX Pro
Anterior segment dysgenesis 7, with sclerocornea [OMIM 605158]
—
PYCR1
ClinEX Pro
Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB [OMIM 179035]
—
PYCR2
ClinEX Pro
Leukodystrophy, hypomyelinating, 10 [OMIM 616406]
—
PYGM
ClinEX Pro
McArdle disease [OMIM 608455]
—
PYROXD1
ClinEX Pro
Myopathy, myofibrillar, 8 [OMIM 617220]
—
QARS1
ClinEX Pro
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy [OMIM 603727]
—
QRICH1
ClinEX Pro
Ververi-Brady syndrome [OMIM 617387]
—
QRICH2
ClinEX Pro
Spermatogenic failure 35 [OMIM 618304]
—
QRSL1
ClinEX Pro
Combined oxidative phosphorylation deficiency 40 [OMIM 617209]
—
RAB11B
ClinEX Pro
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [OMIM 604198]
—
RAB18
ClinEX Pro
Warburg micro syndrome 3 [OMIM 602207]
—
RAB23
ClinEX Pro
Carpenter syndrome [OMIM 606144]
—
RAB28
ClinEX Pro
Cone-rod dystrophy 18 [OMIM 612994]
—
RAB33B
ClinEX Pro
Smith-McCort dysplasia 2 [OMIM 605950]
—
RAB39B
ClinEX Pro
Mental retardation, X-linked 72; Waisman syndrome [OMIM 300774]
—
RAB3GAP1
ClinEX Pro
Warburg micro syndrome 1 [OMIM 602536]
—
RAB3GAP2
ClinEX Pro
Martsolf syndrome; Warburg micro syndrome 2 [OMIM 609275]
—
RAB7A
ClinEX Pro
Charcot-Marie-Tooth disease, type 2B [OMIM 602298]
—
RABL3
ClinEX Pro
{?Pancreatic cancer, susceptibility to, 5} [OMIM 618542]
—
RAC1
ClinEX Pro
Mental retardation, autosomal dominant 48 [OMIM 602048]
—
RAC2
ClinEX Pro
?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia; Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia [OMIM 602049]
—
RAC3
ClinEX Pro
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies [OMIM 602050]
—
RAD51
ClinEX Pro
{Breast cancer, susceptibility to}; Fanconi anemia, complementation group R; Mirror movements 2 [OMIM 179617]
—
RAD54B
ClinEX Pro
Colon cancer, somatic; Lymphoma, non-Hodgkin, somatic [OMIM 604289]
—
RAI1
ClinEX Pro
Smith-Magenis syndrome [OMIM 607642]
—
RALA
ClinEX Pro
Hiatt-Neu-Cooper neurodevelopmental syndrome [OMIM 179550]
—
RALGAPA1
ClinEX Pro
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation [OMIM 608884]
—
RAP1GDS1
ClinEX Pro
Lymphocytic leukemia, acute T-cell [OMIM 179502]
—
RAPGEF2
ClinEX Pro
?Epilepsy, familial adult myoclonic, 7 [OMIM 609530]
—
RARB
ClinEX Pro
Microphthalmia, syndromic 12 [OMIM 180220]
—
RARS1
ClinEX Pro
Leukodystrophy, hypomyelinating, 9 [OMIM 107820]
—
RARS2
ClinEX Pro
Pontocerebellar hypoplasia, type 6 [OMIM 611524]
—
RASA1
ClinEX Pro
Basal cell carcinoma, somatic; Capillary malformation-arteriovenous malformation 1 [OMIM 139150]
—
RASGRP1
ClinEX Pro
Immunodeficiency 64 [OMIM 603962]
—
RASGRP2
ClinEX Pro
?Bleeding disorder, platelet-type, 18 [OMIM 605577]
—
RAX
ClinEX Pro
Microphthalmia, isolated 3 [OMIM 601881]
—
RAX2
ClinEX Pro
?Macular degeneration, age-related, 6; Cone-rod dystrophy 11 [OMIM 610362]
—
RB1CC1
ClinEX Pro
Breast cancer, somatic [OMIM 606837]
—
RBBP8
ClinEX Pro
Jawad syndrome; Pancreatic carcinoma, somatic; Seckel syndrome 2 [OMIM 604124]
—
RBCK1
ClinEX Pro
Polyglucosan body myopathy 1 with or without immunodeficiency [OMIM 610924]
—
RBM10
ClinEX Pro
TARP syndrome [OMIM 300080]
—
RBM12
ClinEX Pro
{Schizophrenia 19, susceptibility to} [OMIM 607179]
—
RBM15
ClinEX Pro
Megakaryoblastic leukemia, acute [OMIM 606077]
—
RBM28
ClinEX Pro
?Alopecia, neurologic defects, and endocrinopathy syndrome [OMIM 612074]
—
RBM8A
ClinEX Pro
Thrombocytopenia-absent radius syndrome [OMIM 605313]
—
RBMX
ClinEX Pro
?Mental retardation, X-linked, syndromic 11, Shashi type [OMIM 300199]
—
RBP3
ClinEX Pro
?Retinitis pigmentosa 66 [OMIM 180290]
—
RBP4
ClinEX Pro
Microphthalmia, isolated, with coloboma 10; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome [OMIM 180250]
—
RBPJ
ClinEX Pro
Adams-Oliver syndrome 3 [OMIM 147183]
—
RC3H1
ClinEX Pro
?Immune dysregulation and systemic hyperinflammation syndrome [OMIM 609424]
—
RCBTB1
ClinEX Pro
Retinal dystrophy with or without extraocular anomalies [OMIM 607867]
—
RD3
ClinEX Pro
Leber congenital amaurosis 12 [OMIM 180040]
—
RDH11
ClinEX Pro
?Retinal dystrophy, juvenile cataracts, and short stature syndrome [OMIM 607849]
—
RDH12
ClinEX Pro
Leber congenital amaurosis 13 [OMIM 608830]
—
RDH5
ClinEX Pro
Fundus albipunctatus [OMIM 601617]
—
RDX
ClinEX Pro
Deafness, autosomal recessive 24 [OMIM 179410]
—
REC114
ClinEX Pro
Oocyte maturation defect 10 [OMIM 618421]
—
RECQL4
ClinEX Pro
Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome, type 2 [OMIM 603780]
—
REEP1
ClinEX Pro
?Neuronopathy, distal hereditary motor, type VB; Spastic paraplegia 31, autosomal dominant [OMIM 609139]
—
REEP2
ClinEX Pro
?Spastic paraplegia 72, autosomal dominant; ?Spastic paraplegia 72, autosomal recessive [OMIM 609347]
—
REEP6
ClinEX Pro
Retinitis pigmentosa 77 [OMIM 609346]
—
RELA
ClinEX Pro
?Mucocutaneous ulceration, chronic [OMIM 164014]
—
RELB
ClinEX Pro
?Immunodeficiency 53 [OMIM 604758]
—
RELN
ClinEX Pro
{Epilepsy, familial temporal lobe, 7}; Lissencephaly 2 (Norman-Roberts type) [OMIM 600514]
—
RELT
ClinEX Pro
Amelogenesis imperfecta, type IIIC [OMIM 611211]
—
REN
ClinEX Pro
[Hyperproreninemia]; Renal tubular dysgenesis; Tubulointerstitial kidney disease, autosomal dominant, 4 [OMIM 179820]
—
REPS1
ClinEX Pro
?Neurodegeneration with brain iron accumulation 7 [OMIM 614825]
—
RERE
ClinEX Pro
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart [OMIM 605226]
—
REST
ClinEX Pro
?Deafness, autosomal dominant 27; {Wilms tumor 6, susceptibility to}; Fibromatosis, gingival, 5 [OMIM 600571]
—
RETN
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent, susceptibility to}; {Hypertension, insulin resistance-related, susceptibility to} [OMIM 605565]
—
RETREG1
ClinEX Pro
Neuropathy, hereditary sensory and autonomic, type IIB [OMIM 613114]
—
RFC1
ClinEX Pro
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome [OMIM 102579]
—
RFT1
ClinEX Pro
Congenital disorder of glycosylation, type In [OMIM 611908]
—
RFX5
ClinEX Pro
Bare lymphocyte syndrome, type II, complementation group C; Bare lymphocyte syndrome, type II, complementation group E [OMIM 601863]
—
RFX6
ClinEX Pro
Mitchell-Riley syndrome [OMIM 612659]
—
RFXAP
ClinEX Pro
Bare lymphocyte syndrome, type II, complementation group D [OMIM 601861]
—
RGR
ClinEX Pro
Retinitis pigmentosa 44 [OMIM 600342]
—
RGS5
ClinEX Pro
[Blood pressure regulation QTL] [OMIM 603276]
—
RGS9
ClinEX Pro
Bradyopsia [OMIM 604067]
—
RGS9BP
ClinEX Pro
Bradyopsia [OMIM 607814]
—
RHAG
ClinEX Pro
Anemia, hemolytic, Rh-null, regulator type; Overhydrated hereditary stomatocytosis [OMIM 180297]
—
RHBDF2
ClinEX Pro
Tylosis with esophageal cancer [OMIM 614404]
—
RHCE
ClinEX Pro
[Blood group, Rhesus]; Rh-null disease, amorph type [OMIM 111700]
—
RHD
ClinEX Pro
[Rh-negative blood type] [OMIM 111680]
—
RHO
ClinEX Pro
Night blindness, congenital stationary, autosomal dominant 1; Retinitis pigmentosa 4, autosomal dominant or recessive; Retinitis punctata albescens [OMIM 180380]
—
RHOBTB2
ClinEX Pro
Developmental and epileptic encephalopathy 64 [OMIM 607352]
—
RHOH
ClinEX Pro
{?Epidermodysplasia verruciformis, susceptibility to, 4} [OMIM 602037]
—
RIC1
ClinEX Pro
CATIFA syndrome [OMIM 610354]
—
RILPL1
ClinEX Pro
Oculopharyngodistal myopathy 4 [OMIM 614092]
—
RIMS1
ClinEX Pro
Cone-rod dystrophy 7 [OMIM 606629]
—
RIMS2
ClinEX Pro
Cone-rod synaptic disorder syndrome, congenital nonprogressive [OMIM 606630]
—
RIN2
ClinEX Pro
Macrocephaly, alopecia, cutis laxa, and scoliosis [OMIM 610222]
—
RINT1
ClinEX Pro
Infantile liver failure syndrome 3 [OMIM 610089]
—
RIPK1
ClinEX Pro
Autoinflammation with episodic fever and lymphadenopathy; Immunodeficiency 57 with autoinflammation [OMIM 603453]
—
RIPK4
ClinEX Pro
CHAND syndrome; Popliteal pterygium syndrome, Bartsocas-Papas type [OMIM 605706]
—
RIPOR2
ClinEX Pro
?Deafness, autosomal recessive 104 [OMIM 611410]
—
RIPPLY2
ClinEX Pro
?Spondylocostal dysostosis 6 [OMIM 609891]
—
RLBP1
ClinEX Pro
Bothnia retinal dystrophy; Fundus albipunctatus; Newfoundland rod-cone dystrophy; Retinitis punctata albescens [OMIM 180090]
—
RLIM
ClinEX Pro
Tonne-Kalscheuer syndrome [OMIM 300379]
—
RMND1
ClinEX Pro
Combined oxidative phosphorylation deficiency 11 [OMIM 614917]
—
RNASEH1
ClinEX Pro
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 [OMIM 604123]
—
RNASEH2A
ClinEX Pro
Aicardi-Goutieres syndrome 4 [OMIM 606034]
—
RNASEH2B
ClinEX Pro
Aicardi-Goutieres syndrome 2 [OMIM 610326]
—
RNASEH2C
ClinEX Pro
Aicardi-Goutieres syndrome 3 [OMIM 610330]
—
RNASEL
ClinEX Pro
Prostate cancer 1 [OMIM 180435]
—
RNASET2
ClinEX Pro
Leukoencephalopathy, cystic, without megalencephaly [OMIM 612944]
—
RNF113A
ClinEX Pro
Trichothiodystrophy 5, nonphotosensitive [OMIM 300951]
—
RNF125
ClinEX Pro
Tenorio syndrome [OMIM 610432]
—
RNF13
ClinEX Pro
Developmental and epileptic encephalopathy 73 [OMIM 609247]
—
RNF139
ClinEX Pro
Renal cell carcinoma [OMIM 603046]
—
RNF168
ClinEX Pro
RIDDLE syndrome [OMIM 612688]
—
RNF170
ClinEX Pro
Ataxia, sensory, 1, autosomal dominant [OMIM 614649]
—
RNF212
ClinEX Pro
Recombination rate QTL 1 [OMIM 612041]
—
RNF213
ClinEX Pro
{Moyamoya disease 2, susceptibility to} [OMIM 613768]
—
RNF216
ClinEX Pro
Cerebellar ataxia and hypogonadotropic hypogonadism [OMIM 609948]
—
RNF220
ClinEX Pro
y, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated c [OMIM ko6d1ys6t1r3o6ph]
—
RNF43
ClinEX Pro
Sessile serrated polyposis cancer syndrome [OMIM 612482]
—
RNF6
ClinEX Pro
Esophageal carcinoma, somatic [OMIM 604242]
—
RNPC3
ClinEX Pro
?Growth hormone deficiency, isolated, type V [OMIM 618016]
—
RNU4ATAC
ClinEX Pro
Lowry-Wood syndrome; Microcephalic osteodysplastic primordial dwarfism, type I; Roifman syndrome [OMIM 601428]
—
RNU7-1
ClinEX Pro
Aicardi-Goutieres syndrome 9 [OMIM 617876]
—
ROBO2
ClinEX Pro
Vesicoureteral reflux 2 [OMIM 602431]
—
ROBO3
ClinEX Pro
Gaze palsy, familial horizontal, with progressive scoliosis, 1 [OMIM 608630]
—
ROBO4
ClinEX Pro
Aortic valve disease 3 [OMIM 607528]
—
ROGDI
ClinEX Pro
Kohlschutter-Tonz syndrome [OMIM 614574]
—
ROM1
ClinEX Pro
Retinitis pigmentosa 7, digenic form [OMIM 180721]
—
ROR1
ClinEX Pro
?Deafness, autosomal recessive 108 [OMIM 602336]
—
ROR2
ClinEX Pro
Brachydactyly, type B1; Robinow syndrome, autosomal recessive [OMIM 602337]
—
RORA
ClinEX Pro
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia [OMIM 600825]
—
RORB
ClinEX Pro
{Epilepsy, idiopathic generalized, susceptibility to, 15} [OMIM 601972]
—
RORC
ClinEX Pro
Immunodeficiency 42 [OMIM 602943]
—
RP1
ClinEX Pro
Retinitis pigmentosa 1 [OMIM 603937]
—
RP1L1
ClinEX Pro
Occult macular dystrophy; Retinitis pigmentosa 88 [OMIM 608581]
—
SFTPA1
ClinEX Pro
Interstitial lung disease 1 [OMIM 178630]
—
RP2
ClinEX Pro
Retinitis pigmentosa 2 [OMIM 300757]
—
RP9
ClinEX Pro
?Retinitis pigmentosa 9 [OMIM 607331]
—
RPGR
ClinEX Pro
Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness [OMIM 312610]
—
RPGRIP1
ClinEX Pro
Cone-rod dystrophy 13; Leber congenital amaurosis 6 [OMIM 605446]
—
RPGRIP1L
ClinEX Pro
?COACH syndrome 3; Joubert syndrome 7; Meckel syndrome 5 [OMIM 610937]
—
RPIA
ClinEX Pro
Ribose 5-phosphate isomerase deficiency [OMIM 180430]
—
RPL10
ClinEX Pro
{Autism, susceptibility to, X-linked 5}; Mental retardation, X-linked, syndromic, 35 [OMIM 312173]
—
RPL10L ENSG0
ClinEX Pro
?Spermatogenic failure 63 [OMIM 98621893655]
—
RPL13
ClinEX Pro
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type [OMIM 113703]
—
RPL21
ClinEX Pro
Hypotrichosis 12 [OMIM 603636]
—
RPL3L
ClinEX Pro
Cardiomyopathy, dilated, 2D [OMIM 617416]
—
RPS14
ClinEX Pro
Macrocytic anemia, refractory, due to 5q deletion, somatic [OMIM 130620]
—
RPS23
ClinEX Pro
Brachycephaly, trichomegaly, and developmental delay [OMIM 603683]
—
RPS6KA3
ClinEX Pro
Coffin-Lowry syndrome; Mental retardation, X-linked 19 [OMIM 300075]
—
RPSA
ClinEX Pro
Asplenia, isolated congenital [OMIM 150370]
—
RRM2B
ClinEX Pro
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); Mitochondrial DNA depletion syndrome 8B (MNGIE type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 [OMIM 604712]
—
RRP7A ENSG0
ClinEX Pro
?Microcephaly 28, primary, autosomal recessive [OMIM 23601193449]
—
RSPH1
ClinEX Pro
Ciliary dyskinesia, primary, 24 [OMIM 609314]
—
RSPH3
ClinEX Pro
Ciliary dyskinesia, primary, 32 [OMIM 615876]
—
RSPH4A
ClinEX Pro
Ciliary dyskinesia, primary, 11 [OMIM 612647]
—
RSPH9
ClinEX Pro
Ciliary dyskinesia, primary, 12 [OMIM 612648]
—
RSPO1
ClinEX Pro
Palmoplantar hyperkeratosis and true hermaphroditism; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal [OMIM 609595]
—
RSPO2
ClinEX Pro
?Humerofemoral hypoplasia with radiotibial ray deficiency; Tetraamelia syndrome 2 [OMIM 610575]
—
RSPO4
ClinEX Pro
Anonychia congenita [OMIM 610573]
—
RSPRY1
ClinEX Pro
Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type [OMIM 616585]
—
RSRC1
ClinEX Pro
Intellectual developmental disorder, autosomal recessive 70 [OMIM 613352]
—
RTN2
ClinEX Pro
Spastic paraplegia 12, autosomal dominant [OMIM 603183]
—
RTN4IP1
ClinEX Pro
Optic atrophy 10 with or without ataxia, mental retardation, and seizures [OMIM 610502]
—
RTN4R
ClinEX Pro
{Schizophrenia, susceptibility to} [OMIM 605566]
—
RTTN
ClinEX Pro
Microcephaly, short stature, and polymicrogyria with seizures [OMIM 610436]
—
RUBCN
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 15 [OMIM 613516]
—
RUNX2
ClinEX Pro
Cleidocranial dysplasia; Cleidocranial dysplasia, forme fruste, dental anomalies only; Cleidocranial dysplasia, forme fruste, with brachydactyly; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly [OMIM 600211]
—
RUSC2
ClinEX Pro
Mental retardation, autosomal recessive 61 [OMIM 611053]
—
RXYLT1
ClinEX Pro
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 [OMIM 605862]
—
S1PR2
ClinEX Pro
Deafness, autosomal recessive 68 [OMIM 605111]
—
SACS
ClinEX Pro
Spastic ataxia, Charlevoix-Saguenay type [OMIM 604490]
—
SAG
ClinEX Pro
Oguchi disease-1; Retinitis pigmentosa 47 [OMIM 181031]
—
SALL1
ClinEX Pro
Townes-Brocks branchiootorenal-like syndrome; Townes-Brocks syndrome 1 [OMIM 602218]
—
SALL2
ClinEX Pro
?Coloboma, ocular, autosomal recessive [OMIM 602219]
—
SAMD12
ClinEX Pro
Epilepsy, familial adult myoclonic, 1 [OMIM 618073]
—
SAR1B
ClinEX Pro
Chylomicron retention disease [OMIM 607690]
—
SARDH
ClinEX Pro
[Sarcosinemia] [OMIM 604455]
—
SARS1
ClinEX Pro
?Neurodevelopmental disorder with microcephaly, ataxia, and seizures [OMIM 607529]
—
SARS2
ClinEX Pro
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis [OMIM 612804]
—
SASH1
ClinEX Pro
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma; Dyschromatosis universalis hereditaria 1 [OMIM 607955]
—
SASH3
ClinEX Pro
Immunodeficiency 102 [OMIM 300441]
—
SASS6
ClinEX Pro
?Microcephaly 14, primary, autosomal recessive [OMIM 609321]
—
SATB1
ClinEX Pro
Developmental delay with dysmorphic facies and dental anomalies; Kohlschutter-Tonz syndrome-like [OMIM 602075]
—
SATB2
ClinEX Pro
Glass syndrome [OMIM 608148]
—
SBF1
ClinEX Pro
Charcot-Marie-Tooth disease, type 4B3 [OMIM 603560]
—
SBF2
ClinEX Pro
Charcot-Marie-Tooth disease, type 4B2 [OMIM 607697]
—
SC5D
ClinEX Pro
Lathosterolosis [OMIM 602286]
—
SCAPER
ClinEX Pro
Intellectual developmental disorder and retinitis pigmentosa [OMIM 611611]
—
SCARB1
ClinEX Pro
[High density lipoprotein cholesterol level QTL6] [OMIM 601040]
—
SCARB2
ClinEX Pro
Epilepsy, progressive myoclonic 4, with or without renal failure [OMIM 602257]
—
SCARF2
ClinEX Pro
Van den Ende-Gupta syndrome [OMIM 613619]
—
SCD5
ClinEX Pro
?Deafness, autosomal dominant 79 [OMIM 608370]
—
SCGB3A2
ClinEX Pro
{Asthma, susceptibility to} [OMIM 606531]
—
SCN11A
ClinEX Pro
Episodic pain syndrome, familial, 3; Neuropathy, hereditary sensory and autonomic, type VII [OMIM 604385]
—
SCN9A
ClinEX Pro
Erythermalgia, primary; Insensitivity to pain, congenital; Neuropathy, hereditary sensory and autonomic, type IID; Paroxysmal extreme pain disorder; Small fiber neuropathy [OMIM 603415]
—
SCO1
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 4 [OMIM 603644]
—
SCP2
ClinEX Pro
?Leukoencephalopathy with dystonia and motor neuropathy [OMIM 184755]
—
SCUBE3
ClinEX Pro
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [OMIM 614708]
—
SCYL1
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 21 [OMIM 607982]
—
SCYL2
ClinEX Pro
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum [OMIM 616365]
—
SDC3
ClinEX Pro
{Obesity, association with} [OMIM 186357]
—
SDCCAG8
ClinEX Pro
Bardet-Biedl syndrome 16; Senior-Loken syndrome 7 [OMIM 613524]
—
SDHAF1
ClinEX Pro
Mitochondrial complex II deficiency, nuclear type 2 [OMIM 612848]
—
SDHAF2
ClinEX Pro
Paragangliomas 2 [OMIM 613019]
—
SDHB
ClinEX Pro
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 4; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma [OMIM 185470]
—
SDHC
ClinEX Pro
Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 3 [OMIM 602413]
—
SDHD
ClinEX Pro
Mitochondrial complex II deficiency, nuclear type 3; Paraganglioma and gastric stromal sarcoma; Paragangliomas 1, with or without deafness; Pheochromocytoma [OMIM 602690]
—
SDR9C7
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 13 [OMIM 609769]
—
SEC23A
ClinEX Pro
Craniolenticulosutural dysplasia [OMIM 610511]
—
SEC23B
ClinEX Pro
?Cowden syndrome 7; Dyserythropoietic anemia, congenital, type II [OMIM 610512]
—
SEC24D
ClinEX Pro
Cole-Carpenter syndrome 2 [OMIM 607186]
—
SEC61A1
ClinEX Pro
Tubulointerstitial kidney disease, autosomal dominant, 5 [OMIM 609213]
—
SEC63
ClinEX Pro
Polycystic liver disease 2 [OMIM 608648]
—
SECISBP2
ClinEX Pro
Thyroid hormone metabolism, abnormal [OMIM 607693]
—
SELENBP1
ClinEX Pro
Extraoral halitosis due to MTO deficiency [OMIM 604188]
—
SELENOI
ClinEX Pro
Spastic paraplegia 81, autosomal recessive [OMIM 607915]
—
SELENON
ClinEX Pro
Muscular dystrophy, rigid spine, 1; Myopathy, congenital, with fiber-type disproportion [OMIM 606210]
—
SEMA3A
ClinEX Pro
{Hypogonadotropic hypogonadism 16 with or without anosmia} [OMIM 603961]
—
SEMA3E
ClinEX Pro
?CHARGE syndrome [OMIM 608166]
—
SEMA4A
ClinEX Pro
Cone-rod dystrophy 10; Retinitis pigmentosa 35 [OMIM 607292]
—
SLC41A1
ClinEX Pro
?Nephronophthisis-like nephropathy 2 [OMIM 610801]
—
SEMA6B
ClinEX Pro
Epilepsy, progressive myoclonic, 11 [OMIM 608873]
—
SEMA7A
ClinEX Pro
[Blood group, John-Milton-Hagen system] [OMIM 607961]
—
SEPSECS
ClinEX Pro
Pontocerebellar hypoplasia type 2D [OMIM 613009]
—
SEPTIN12
ClinEX Pro
Spermatogenic failure 10 [OMIM 611562]
—
SEPTIN9
ClinEX Pro
Amyotrophy, hereditary neuralgic [OMIM 604061]
—
SERAC1
ClinEX Pro
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [OMIM 614725]
—
SERPINA1
ClinEX Pro
Emphysema due to AAT deficiency; Emphysema-cirrhosis, due to AAT deficiency; Hemorrhagic diathesis due to antithrombin Pittsburgh [OMIM 107400]
—
SERPINA3
ClinEX Pro
Alpha-1-antichymotrypsin deficiency; Cerebrovascular disease, occlusive [OMIM 107280]
—
SLC51A
ClinEX Pro
?Cholestasis, progressive familial intrahepatic, 6 [OMIM 612084]
—
SLC51B
ClinEX Pro
?Bile acid malabsorption, primary, 2 [OMIM 612085]
—
SERPINA6
ClinEX Pro
Corticosteroid-binding globulin deficiency [OMIM 122500]
—
SERPINA7
ClinEX Pro
[Thyroxine-binding globulin QTL] [OMIM 314200]
—
SERPINB6
ClinEX Pro
?Deafness, autosomal recessive 91 [OMIM 173321]
—
SERPINB7
ClinEX Pro
Palmoplantar keratoderma, Nagashima type [OMIM 603357]
—
SERPINB8
ClinEX Pro
Peeling skin syndrome 5 [OMIM 601697]
—
SERPINC1
ClinEX Pro
Thrombophilia due to antithrombin III deficiency [OMIM 107300]
—
SERPIND1
ClinEX Pro
Thrombophilia due to heparin cofactor II deficiency [OMIM 142360]
—
SERPINF1
ClinEX Pro
Osteogenesis imperfecta, type VI [OMIM 172860]
—
SERPINF2
ClinEX Pro
Alpha-2-plasmin inhibitor deficiency [OMIM 613168]
—
SERPING1
ClinEX Pro
Angioedema, hereditary, types I and II; Complement component 4, partial deficiency of [OMIM 606860]
—
SERPINH1
ClinEX Pro
{Preterm premature rupture of the membranes, susceptibility to}; Osteogenesis imperfecta, type X [OMIM 600943]
—
SERPINI1
ClinEX Pro
Encephalopathy, familial, with neuroserpin inclusion bodies [OMIM 602445]
—
SETD1A
ClinEX Pro
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies [OMIM 611052]
—
SLC6A6
ClinEX Pro
Hypotaurinemic retinal degeneration and cardiomyopathy [OMIM 186854]
—
SETD1B
ClinEX Pro
Intellectual developmental disorder with seizures and language delay [OMIM 611055]
—
SETD2
ClinEX Pro
Luscan-Lumish syndrome [OMIM 612778]
—
SETD5
ClinEX Pro
Mental retardation, autosomal dominant 23 [OMIM 615743]
—
SETX
ClinEX Pro
Amyotrophic lateral sclerosis 4, juvenile; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM 608465]
—
SF3B2
ClinEX Pro
Craniofacial microsomia [OMIM 605591]
—
SF3B4
ClinEX Pro
Acrofacial dysostosis 1, Nager type [OMIM 605593]
—
SFRP4
ClinEX Pro
Pyle disease [OMIM 606570]
—
SFTPA2
ClinEX Pro
Pulmonary fibrosis, idiopathic [OMIM 178642]
—
SFTPB
ClinEX Pro
Surfactant metabolism dysfunction, pulmonary, 1 [OMIM 178640]
—
SFTPC
ClinEX Pro
Surfactant metabolism dysfunction, pulmonary, 2 [OMIM 178620]
—
SFXN4
ClinEX Pro
Combined oxidative phosphorylation deficiency 18 [OMIM 615564]
—
SGCA
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal recessive 3 [OMIM 600119]
—
SGCE
ClinEX Pro
Dystonia-11, myoclonic [OMIM 604149]
—
SGMS2
ClinEX Pro
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia [OMIM 611574]
—
SGO1
ClinEX Pro
Chronic atrial and intestinal dysrhythmia [OMIM 609168]
—
SGPL1
ClinEX Pro
Nephrotic syndrome, type 14 [OMIM 603729]
—
SH3BP2
ClinEX Pro
Cherubism [OMIM 602104]
—
SH3KBP1
ClinEX Pro
?Immunodeficiency 61 [OMIM 300374]
—
SH3PXD2B
ClinEX Pro
Frank-ter Haar syndrome [OMIM 613293]
—
SH3TC2
ClinEX Pro
Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild [OMIM 608206]
—
SHANK2
ClinEX Pro
{Autism susceptibility 17} [OMIM 603290]
—
SHANK3
ClinEX Pro
{Schizophrenia 15}; Phelan-McDermid syndrome [OMIM 606230]
—
SHH
ClinEX Pro
Holoprosencephaly 3; Microphthalmia with coloboma 5; Schizencephaly; Single median maxillary central incisor [OMIM 600725]
—
SHMT2
ClinEX Pro
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities [OMIM 138450]
—
SHOC1
ClinEX Pro
Spermatogenic failure 75 [OMIM 618038]
—
SHOX
ClinEX Pro
Langer mesomelic dysplasia; Leri-Weill dyschondrosteosis; Short stature, idiopathic familial [OMIM 312865]
—
SHPK
ClinEX Pro
[Sedoheptulokinase deficiency] [OMIM 605060]
—
SHQ1
ClinEX Pro
?Dystonia 35, childhood-onset [OMIM 613663]
—
SHROOM4
ClinEX Pro
Stocco dos Santos X-linked mental retardation syndrome [OMIM 300579]
—
SIAE
ClinEX Pro
{Autoimmune disease, susceptibility to, 6} [OMIM 610079]
—
SIAH1
ClinEX Pro
Buratti-Harel syndrome [OMIM 602212]
—
SIGMAR1
ClinEX Pro
?Amyotrophic lateral sclerosis 16, juvenile; ?Spinal muscular atrophy, distal, autosomal recessive, 2 [OMIM 601978]
—
SIK1
ClinEX Pro
Developmental and epileptic encephalopathy 30 [OMIM 605705]
—
SIK3
ClinEX Pro
?Spondyloepimetaphyseal dysplasia, Krakow type [OMIM 614776]
—
SIL1
ClinEX Pro
Marinesco-Sjogren syndrome [OMIM 608005]
—
SIN3A
ClinEX Pro
Witteveen-Kolk syndrome [OMIM 607776]
—
SIPA1L3
ClinEX Pro
?Cataract 45 [OMIM 616655]
—
SIX1
ClinEX Pro
Branchiootic syndrome 3; Deafness, autosomal dominant 23 [OMIM 601205]
—
SIX3
ClinEX Pro
Holoprosencephaly 2; Schizencephaly [OMIM 603714]
—
SIX5
ClinEX Pro
Branchiootorenal syndrome 2 [OMIM 600963]
—
SIX6
ClinEX Pro
Optic disc anomalies with retinal and/or macular dystrophy [OMIM 606326]
—
SKI
ClinEX Pro
Shprintzen-Goldberg syndrome [OMIM 164780]
—
SKIC2
ClinEX Pro
Trichohepatoenteric syndrome 2
—
SKIC3
ClinEX Pro
Trichohepatoenteric syndrome 1
—
SLC10A1
ClinEX Pro
Hypercholanemia, familial 2 [OMIM 182396]
—
SLC10A2
ClinEX Pro
Bile acid malabsorption, primary [OMIM 601295]
—
SLC10A7
ClinEX Pro
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis [OMIM 611459]
—
SLC11A1
ClinEX Pro
{Buruli ulcer, susceptibility to}; {Mycobacterium tuberculosis, susceptibility to infection by} [OMIM 600266]
—
SLC11A2
ClinEX Pro
Anemia, hypochromic microcytic, with iron overload 1 [OMIM 600523]
—
SLC12A2
ClinEX Pro
Deafness, autosomal dominant 78; Delpire-McNeill syndrome; Kilquist syndrome [OMIM 600840]
—
SLC12A5
ClinEX Pro
{Epilepsy, idiopathic generalized, susceptibility to, 14}; Developmental and epileptic encephalopathy 34 [OMIM 606726]
—
SLC12A6
ClinEX Pro
Agenesis of the corpus callosum with peripheral neuropathy [OMIM 604878]
—
SLC13A3
ClinEX Pro
Leukoencephalopathy, acute reversible, with increased urinary alpha- ketoglutarate [OMIM 606411]
—
SLC13A5
ClinEX Pro
Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta [OMIM 608305]
—
SLC14A1
ClinEX Pro
[Blood group, Kidd] [OMIM 613868]
—
SLC16A12
ClinEX Pro
Cataract 47, juvenile, with microcornea [OMIM 611910]
—
SLC16A2
ClinEX Pro
Allan-Herndon-Dudley syndrome [OMIM 300095]
—
SLC17A3
ClinEX Pro
[Uric acid concentration, serum, QTL4]; {Gout susceptibility 4} [OMIM 611034]
—
SLC17A5
ClinEX Pro
Salla disease; Sialic acid storage disorder, infantile [OMIM 604322]
—
SLC17A8
ClinEX Pro
Deafness, autosomal dominant 25 [OMIM 607557]
—
SLC17A9
ClinEX Pro
Porokeratosis 8, disseminated superficial actinic type [OMIM 612107]
—
SLC19A1
ClinEX Pro
?Megaloblastic anemia, folate-responsive [OMIM 600424]
—
SLC1A1
ClinEX Pro
{?Schizophrenia susceptibility 18}; Dicarboxylic aminoaciduria [OMIM 133550]
—
SLC1A2
ClinEX Pro
Developmental and epileptic encephalopathy 41 [OMIM 600300]
—
SLC1A3
ClinEX Pro
Episodic ataxia, type 6 [OMIM 600111]
—
SLC1A4
ClinEX Pro
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly [OMIM 600229]
—
SLC20A2
ClinEX Pro
Basal ganglia calcification, idiopathic, 1 [OMIM 158378]
—
SLC22A12
ClinEX Pro
Hypouricemia, renal [OMIM 607096]
—
SPAG17
ClinEX Pro
?Spermatogenic failure 55 [OMIM 616554]
—
SLC22A18
ClinEX Pro
Breast cancer, somatic; Lung cancer, somatic; Rhabdomyosarcoma, somatic [OMIM 602631]
—
SLC22A4
ClinEX Pro
{Rheumatoid arthritis, susceptibility to} [OMIM 604190]
—
SLC24A1
ClinEX Pro
Night blindness, congenital stationary (complete), 1D, autosomal recessive [OMIM 603617]
—
SLC24A4
ClinEX Pro
[Skin/hair/eye pigmentation 6, blond/brown hair]; [Skin/hair/eye pigmentation 6, blue/green eyes]; Amelogenesis imperfecta, type IIA5 [OMIM 609840]
—
SLC24A5
ClinEX Pro
[Skin/hair/eye pigmentation 4, fair/dark skin]; Albinism, oculocutaneous, type VI [OMIM 609802]
—
SLC25A10
ClinEX Pro
?Mitochondrial DNA depletion syndrome 19 [OMIM 606794]
—
SLC25A11
ClinEX Pro
Paragangliomas 6 [OMIM 604165]
—
SLC25A12
ClinEX Pro
Developmental and epileptic encephalopathy 39 [OMIM 603667]
—
SPI1
ClinEX Pro
Agammaglobulinemia 10, autosomal dominant [OMIM 165170]
—
SLC25A21
ClinEX Pro
?Mitochondrial DNA depletion syndrome 18 [OMIM 607571]
—
SLC25A22
ClinEX Pro
Developmental and epileptic encephalopathy 3 [OMIM 609302]
—
SLC25A24
ClinEX Pro
Fontaine progeroid syndrome [OMIM 608744]
—
SLC25A26
ClinEX Pro
Combined oxidative phosphorylation deficiency 28 [OMIM 611037]
—
SLC25A3
ClinEX Pro
Mitochondrial phosphate carrier deficiency [OMIM 600370]
—
SLC25A32
ClinEX Pro
?Exercise intolerance, riboflavin-responsive [OMIM 138480]
—
SLC25A38
ClinEX Pro
Anemia, sideroblastic, 2, pyridoxine-refractory [OMIM 610819]
—
SLC25A42
ClinEX Pro
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression [OMIM 610823]
—
SLC25A46
ClinEX Pro
Neuropathy, hereditary motor and sensory, type VIB [OMIM 610826]
—
SLC26A1
ClinEX Pro
?Nephrolithiasis, calcium oxalate [OMIM 610130]
—
SPTBN1
ClinEX Pro
Developmental delay, impaired speech, and behavioral abnormalities [OMIM 182790]
—
SLC26A5
ClinEX Pro
?Deafness, autosomal recessive 61 [OMIM 604943]
—
SLC26A8
ClinEX Pro
Spermatogenic failure 3 [OMIM 608480]
—
SLC27A4
ClinEX Pro
Ichthyosis prematurity syndrome [OMIM 604194]
—
SLC28A1
ClinEX Pro
[Uridine-cytidineuria] [OMIM 606207]
—
SLC29A3
ClinEX Pro
Histiocytosis-lymphadenopathy plus syndrome [OMIM 612373]
—
SLC2A2
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent}; Fanconi-Bickel syndrome [OMIM 138160]
—
SLC2A9
ClinEX Pro
{Uric acid concentration, serum, QTL 2}; Hypouricemia, renal, 2 [OMIM 606142]
—
SLC30A10
ClinEX Pro
Hypermanganesemia with dystonia 1 [OMIM 611146]
—
SLC30A2
ClinEX Pro
Zinc deficiency, transient neonatal [OMIM 609617]
—
SLC30A8
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent, susceptibility to} [OMIM 611145]
—
SLC30A9
ClinEX Pro
?Birk-Landau-Perez syndrome [OMIM 604604]
—
SLC33A1
ClinEX Pro
Congenital cataracts, hearing loss, and neurodegeneration; Spastic paraplegia 42, autosomal dominant [OMIM 603690]
—
SLC34A1
ClinEX Pro
?Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2; Nephrolithiasis/osteoporosis, hypophosphatemic, 1 [OMIM 182309]
—
SLC35A1
ClinEX Pro
Congenital disorder of glycosylation, type IIf [OMIM 605634]
—
SLC35A2
ClinEX Pro
Congenital disorder of glycosylation, type IIm [OMIM 314375]
—
SLC35A3
ClinEX Pro
?Arthrogryposis, mental retardation, and seizures [OMIM 605632]
—
SLC35C1
ClinEX Pro
Congenital disorder of glycosylation, type IIc [OMIM 605881]
—
SLC35D1
ClinEX Pro
Schneckenbecken dysplasia [OMIM 610804]
—
SLC36A2
ClinEX Pro
Hyperglycinuria; Iminoglycinuria, digenic [OMIM 608331]
—
SLC38A3
ClinEX Pro
Developmental and epileptic encephalopathy 102 [OMIM 604437]
—
SLC38A8
ClinEX Pro
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis [OMIM 615585]
—
SLC39A13
ClinEX Pro
Ehlers-Danlos syndrome, spondylodysplastic type, 3 [OMIM 608735]
—
SLC39A14
ClinEX Pro
?Hyperostosis cranalis interna; Hypermanganesemia with dystonia 2 [OMIM 608736]
—
SLC39A4
ClinEX Pro
Acrodermatitis enteropathica [OMIM 607059]
—
SLC39A5
ClinEX Pro
Myopia 24, autosomal dominant [OMIM 608730]
—
SLC39A7
ClinEX Pro
Agammaglobulinemia 9, autosomal recessive [OMIM 601416]
—
SLC3A1
ClinEX Pro
Cystinuria [OMIM 104614]
—
SLC44A1
ClinEX Pro
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline [OMIM 606105]
—
SLC44A4
ClinEX Pro
?Deafness, autosomal dominant 72 [OMIM 606107]
—
SLC45A1
ClinEX Pro
Intellectual developmental disorder with neuropsychiatric features [OMIM 605763]
—
SLC45A2
ClinEX Pro
[Skin/hair/eye pigmentation 5, black/nonblack hair]; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, dark/light eyes]; Albinism, oculocutaneous, type IV [OMIM 606202]
—
SLC4A1
ClinEX Pro
[Blood group, Diego]; [Blood group, Froese]; [Blood group, Swann]; [Blood group, Waldner]; [Blood group, Wright]; [Malaria, resistance to]; Cryohydrocytosis; Distal renal tubular acidosis 1; Distal renal tubular acidosis 4 with hemolytic anemia; Ovalocytosis, SA type; Spherocytosis, type 4 [OMIM 109270]
—
STK36
ClinEX Pro
?Ciliary dyskinesia, primary, 46 [OMIM 607652]
—
SLC4A11
ClinEX Pro
Corneal dystrophy, Fuchs endothelial, 4; Corneal endothelial dystrophy and perceptive deafness; Corneal endothelial dystrophy, autosomal recessive [OMIM 610206]
—
SLC4A4
ClinEX Pro
Renal tubular acidosis, proximal, with ocular abnormalities [OMIM 603345]
—
SLC52A1
ClinEX Pro
Riboflavin deficiency [OMIM 607883]
—
SLC5A2
ClinEX Pro
Renal glucosuria [OMIM 182381]
—
SLC5A7
ClinEX Pro
Myasthenic syndrome, congenital, 20, presynaptic; Neuronopathy, distal hereditary motor, type VIIA [OMIM 608761]
—
SLC6A1
ClinEX Pro
Myoclonic-atonic epilepsy [OMIM 137165]
—
STX3
ClinEX Pro
Diarrhea 12, with microvillus atrophy [OMIM 600876]
—
SLC6A17
ClinEX Pro
Mental retardation, autosomal recessive 48 [OMIM 610299]
—
SLC6A19
ClinEX Pro
Hartnup disorder; Hyperglycinuria; Iminoglycinuria, digenic [OMIM 608893]
—
SLC6A2
ClinEX Pro
?Orthostatic intolerance [OMIM 163970]
—
SLC6A20
ClinEX Pro
Hyperglycinuria; Iminoglycinuria, digenic [OMIM 605616]
—
SLC6A3
ClinEX Pro
{Nicotine dependence, protection against}; Parkinsonism-dystonia, infantile, 1 [OMIM 126455]
—
SLC6A4
ClinEX Pro
{Anxiety-related personality traits}; {Obsessive-compulsive disorder} [OMIM 182138]
—
SLC6A9
ClinEX Pro
Glycine encephalopathy with normal serum glycine [OMIM 601019]
—
SLC7A14
ClinEX Pro
Retinitis pigmentosa 68 [OMIM 615720]
—
SLC7A6OS
ClinEX Pro
Epilepsy, progressive myoclonic, 12 [OMIM 619192]
—
SUPT16H
ClinEX Pro
eurodevelopmental disorder with dysmorphic facies and thin corpus callosu [OMIM 605012N]
—
SLC7A9
ClinEX Pro
Cystinuria [OMIM 604144]
—
SLC9A1
ClinEX Pro
Lichtenstein-Knorr syndrome [OMIM 107310]
—
SLC9A3R1
ClinEX Pro
Nephrolithiasis/osteoporosis, hypophosphatemic, 2 [OMIM 604990]
—
SLC9A6
ClinEX Pro
Mental retardation, X-linked syndromic, Christianson type [OMIM 300231]
—
SLC9A7
ClinEX Pro
Intellectual developmental disorder, X-linked 108 [OMIM 300368]
—
SYK
ClinEX Pro
Immunodeficiency 82 with systemic inflammation [OMIM 600085]
—
SLC9A9
ClinEX Pro
{?Autism susceptibility 16} [OMIM 608396]
—
SLCO1B1
ClinEX Pro
Hyperbilirubinemia, Rotor type, digenic [OMIM 604843]
—
SLCO1B3
ClinEX Pro
Hyperbilirubinemia, Rotor type, digenic [OMIM 605495]
—
SLCO2A1
ClinEX Pro
Hypertrophic osteoarthropathy, primary, autosomal recessive 2 [OMIM 601460]
—
SLFN14
ClinEX Pro
Bleeding disorder, platelet-type, 20 [OMIM 614958]
—
SLITRK1
ClinEX Pro
?Trichotillomania; Tourette syndrome [OMIM 609678]
—
SLITRK6
ClinEX Pro
Deafness and myopia [OMIM 609681]
—
SLURP1
ClinEX Pro
Meleda disease [OMIM 606119]
—
SMAD6
ClinEX Pro
{Craniosynostosis 7, susceptibility to}; {Radioulnar synostosis, nonsyndromic}; Aortic valve disease 2 [OMIM 602931]
—
SMAD7
ClinEX Pro
{Colorectal cancer, susceptibility to, 3} [OMIM 602932]
—
SMAD9
ClinEX Pro
Pulmonary hypertension, primary, 2 [OMIM 603295]
—
SMARCA2
ClinEX Pro
Nicolaides-Baraitser syndrome [OMIM 600014]
—
SMARCAD1
ClinEX Pro
Adermatoglyphia; Basan syndrome; Huriez syndrome [OMIM 612761]
—
SMARCAL1
ClinEX Pro
Schimke immunoosseous dysplasia [OMIM 606622]
—
SMARCC2
ClinEX Pro
Coffin-Siris syndrome 8 [OMIM 601734]
—
SMARCD1
ClinEX Pro
Coffin-Siris syndrome 11 [OMIM 601735]
—
SMARCD2
ClinEX Pro
Specific granule deficiency 2 [OMIM 601736]
—
SMARCE1
ClinEX Pro
{Meningioma, familial, susceptibility to}; Coffin-Siris syndrome 5 [OMIM 603111]
—
SMCHD1
ClinEX Pro
Bosma arhinia microphthalmia syndrome; Fascioscapulohumeral muscular dystrophy 2, digenic [OMIM 614982]
—
SMG8
ClinEX Pro
Alzahrani-Kuwahara syndrome [OMIM 613175]
—
SMG9
ClinEX Pro
Heart and brain malformation syndrome [OMIM 613176]
—
SMIM1
ClinEX Pro
[Blood group, Vel system] [OMIM 615242]
—
SMOC1
ClinEX Pro
Microphthalmia with limb anomalies [OMIM 608488]
—
SMOC2
ClinEX Pro
Dentin dysplasia, type I, with microdontia and misshapen teeth [OMIM 607223]
—
SMPD4
ClinEX Pro
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies [OMIM 610457]
—
SMPX
ClinEX Pro
Deafness, X-linked 4 [OMIM 300226]
—
SMS
ClinEX Pro
Mental retardation, X-linked, Snyder-Robinson type [OMIM 300105]
—
SNAI2
ClinEX Pro
Piebaldism; Waardenburg syndrome, type 2D [OMIM 602150]
—
SNAP29
ClinEX Pro
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [OMIM 604202]
—
SNCA
ClinEX Pro
Dementia, Lewy body; Parkinson disease 1; Parkinson disease 4 [OMIM 163890]
—
SNCB
ClinEX Pro
Dementia, Lewy body [OMIM 602569]
—
SNIP1
ClinEX Pro
Psychomotor retardation, epilepsy, and craniofacial dysmorphism [OMIM 608241]
—
SNORA31
ClinEX Pro
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10} [OMIM 619378]
—
SNORD118
ClinEX Pro
Leukoencephalopathy, brain calcifications, and cysts [OMIM 616663]
—
SNRNP200
ClinEX Pro
Retinitis pigmentosa 33 [OMIM 601664]
—
SNRPB
ClinEX Pro
Cerebrocostomandibular syndrome [OMIM 182282]
—
SNRPE
ClinEX Pro
Hypotrichosis 11 [OMIM 128260]
—
SNRPN
ClinEX Pro
Prader-Willi syndrome [OMIM 182279]
—
SNX10
ClinEX Pro
Osteopetrosis, autosomal recessive 8 [OMIM 614780]
—
SNX14
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 20 [OMIM 616105]
—
SOBP
ClinEX Pro
Mental retardation, anterior maxillary protrusion, and strabismus [OMIM 613667]
—
SOD1
ClinEX Pro
Amyotrophic lateral sclerosis 1; Spastic tetraplegia and axial hypotonia, progressive [OMIM 147450]
—
SOD2
ClinEX Pro
{Microvascular complications of diabetes 6} [OMIM 147460]
—
SOD3
ClinEX Pro
[Superoxide dismutase, elevated extracellular] [OMIM 185490]
—
SOHLH1
ClinEX Pro
Ovarian dysgenesis 5; Spermatogenic failure 32 [OMIM 610224]
—
SON
ClinEX Pro
ZTTK syndrome [OMIM 182465]
—
SORD
ClinEX Pro
Sorbitol dehydrogenase deficiency with peripheral neuropathy [OMIM 182500]
—
SORT1
ClinEX Pro
[Low density lipoprotein cholesterol level QTL6] [OMIM 602458]
—
SOST
ClinEX Pro
Craniodiaphyseal dysplasia, autosomal dominant; Sclerosteosis 1 [OMIM 605740]
—
SOX10
ClinEX Pro
PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome, type 4C [OMIM 602229]
—
SOX11
ClinEX Pro
Coffin-Siris syndrome 9 [OMIM 600898]
—
SOX17
ClinEX Pro
Vesicoureteral reflux 3 [OMIM 610928]
—
SOX18
ClinEX Pro
Hypotrichosis-lymphedema-telangiectasia syndrome; Hypotrichosis- lymphedema-telangiectasia-renal defect syndrome [OMIM 601618]
—
SOX2
ClinEX Pro
Microphthalmia, syndromic 3; Optic nerve hypoplasia and abnormalities of the central nervous system [OMIM 184429]
—
SOX3
ClinEX Pro
Mental retardation, X-linked, with isolated growth hormone deficiency; Panhypopituitarism, X-linked [OMIM 313430]
—
SOX4
ClinEX Pro
Coffin-Siris syndrome 10 [OMIM 184430]
—
SOX5
ClinEX Pro
Lamb-Shaffer syndrome [OMIM 604975]
—
SOX6
ClinEX Pro
Tolchin-Le Caignec syndrome [OMIM 607257]
—
SOX9
ClinEX Pro
Acampomelic campomelic dysplasia; Campomelic dysplasia; Campomelic dysplasia with autosomal sex reversal [OMIM 608160]
—
SP110
ClinEX Pro
{Mycobacterium tuberculosis, susceptibility to}; Hepatic venoocclusive disease with immunodeficiency [OMIM 604457]
—
SP7
ClinEX Pro
Osteogenesis imperfecta, type XII [OMIM 606633]
—
SPAG1
ClinEX Pro
Ciliary dyskinesia, primary, 28 [OMIM 603395]
—
SPARC
ClinEX Pro
Osteogenesis imperfecta, type XVII [OMIM 182120]
—
SPART
ClinEX Pro
Troyer syndrome [OMIM 607111]
—
SPAST
ClinEX Pro
Spastic paraplegia 4, autosomal dominant [OMIM 604277]
—
SPATA16
ClinEX Pro
?Spermatogenic failure 6 [OMIM 609856]
—
SPATA5
ClinEX Pro
Epilepsy, hearing loss, and mental retardation syndrome [OMIM 613940]
—
SPATA5L1 ENSG0
ClinEX Pro
Deafness, autosomal recessive 119; Neurodevelopmental disorder with hearing loss and spasticity [OMIM 05651690578]
—
SPATA7
ClinEX Pro
Leber congenital amaurosis 3; Retinitis pigmentosa, juvenile, autosomal recessive [OMIM 609868]
—
SPECC1L
ClinEX Pro
?Facial clefting, oblique, 1; Hypertelorism, Teebi type; Opitz GBBB syndrome, type II [OMIM 614140]
—
SPEF2
ClinEX Pro
Spermatogenic failure 43 [OMIM 610172]
—
SPEG
ClinEX Pro
Centronuclear myopathy 5 [OMIM 615950]
—
SPEN
ClinEX Pro
Radio-Tartaglia syndrome [OMIM 613484]
—
SPG11
ClinEX Pro
Amyotrophic lateral sclerosis 5, juvenile; Charcot-Marie-Tooth disease, axonal, type 2X; Spastic paraplegia 11, autosomal recessive [OMIM 610844]
—
SPG21
ClinEX Pro
Mast syndrome [OMIM 608181]
—
SPG7
ClinEX Pro
Spastic paraplegia 7, autosomal recessive [OMIM 602783]
—
SPIDR
ClinEX Pro
Ovarian dysgenesis 9 [OMIM 615384]
—
SPINK1
ClinEX Pro
{Fibrocalculous pancreatic diabetes, susceptibility to}; Pancreatitis, hereditary; Tropical calcific pancreatitis [OMIM 167790]
—
SPINK2
ClinEX Pro
?Spermatogenic failure 29 [OMIM 605753]
—
SPINK5
ClinEX Pro
Netherton syndrome [OMIM 605010]
—
SPINT2
ClinEX Pro
Diarrhea 3, secretory sodium, congenital, syndromic [OMIM 605124]
—
SPNS2
ClinEX Pro
?Deafness, autosomal recessive 115 [OMIM 612584]
—
SPOP
ClinEX Pro
Nabais Sa-de Vries syndrome, type 1; Nabais Sa-de Vries syndrome, type 2 [OMIM 602650]
—
SPPL2A
ClinEX Pro
Immunodeficiency 86, mycobacteriosis [OMIM 608238]
—
SPRTN
ClinEX Pro
Ruijs-Aalfs syndrome [OMIM 616086]
—
SPRY2
ClinEX Pro
{?IgA nephropathy, susceptibility to, 3} [OMIM 602466]
—
SPRY4
ClinEX Pro
Hypogonadotropic hypogonadism 17 with or without anosmia [OMIM 607984]
—
SPTA1
ClinEX Pro
Elliptocytosis-2; Pyropoikilocytosis; Spherocytosis, type 3 [OMIM 182860]
—
SPTAN1
ClinEX Pro
Developmental and epileptic encephalopathy 5 [OMIM 182810]
—
SPTB
ClinEX Pro
Anemia, neonatal hemolytic, fatal or near-fatal; Elliptocytosis- 3; Spherocytosis, type 2 [OMIM 182870]
—
SPTBN2
ClinEX Pro
Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14 [OMIM 604985]
—
SPTBN4
ClinEX Pro
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness [OMIM 606214]
—
SPTLC1
ClinEX Pro
Neuropathy, hereditary sensory and autonomic, type IA [OMIM 605712]
—
SPTLC2
ClinEX Pro
Neuropathy, hereditary sensory and autonomic, type IC [OMIM 605713]
—
SQOR
ClinEX Pro
Sulfide:quinone oxidoreductase deficiency [OMIM 617658]
—
SRCAP
ClinEX Pro
Floating-Harbor syndrome [OMIM 611421]
—
SRD5A2
ClinEX Pro
Pseudovaginal perineoscrotal hypospadias [OMIM 607306]
—
SRD5A3
ClinEX Pro
Congenital disorder of glycosylation, type Iq; Kahrizi syndrome [OMIM 611715]
—
SREBF1
ClinEX Pro
Ichthyosis, follicular, with atrichia and photophobia syndrome 2; Mucoepithelial dysplasia, hereditary [OMIM 184756]
—
SRGAP1
ClinEX Pro
{Thyroid cancer, nonmedullary, 2} [OMIM 606523]
—
SRPX2
ClinEX Pro
?Rolandic epilepsy, mental retardation, and speech dyspraxia [OMIM 300642]
—
SSBP1
ClinEX Pro
Optic atrophy 13 with retinal and foveal abnormalities [OMIM 600439]
—
SSR4
ClinEX Pro
Congenital disorder of glycosylation, type Iy [OMIM 300090]
—
ST14
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 11 [OMIM 606797]
—
ST3GAL3
ClinEX Pro
Developmental and epileptic encephalopathy 15; Intellectual developmental disorder, autosomal recessive 12 [OMIM 606494]
—
ST3GAL5
ClinEX Pro
Salt and pepper developmental regression syndrome [OMIM 604402]
—
STAC3
ClinEX Pro
Myopathy, congenital, Baily-Bloch [OMIM 615521]
—
STAG3
ClinEX Pro
Premature ovarian failure 8 [OMIM 608489]
—
STAMBP
ClinEX Pro
Microcephaly-capillary malformation syndrome [OMIM 606247]
—
STARD7
ClinEX Pro
Epilepsy, familial adult myoclonic, 2 [OMIM 616712]
—
STAT1
ClinEX Pro
Immunodeficiency 31A, mycobacteriosis, autosomal dominant; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant [OMIM 600555]
—
STAT2
ClinEX Pro
Immunodeficiency 44; Pseudo-TORCH syndrome 3 [OMIM 600556]
—
STAT4
ClinEX Pro
{Systemic lupus erythematosus, susceptibility to, 11} [OMIM 600558]
—
STEAP3
ClinEX Pro
?Anemia, hypochromic microcytic, with iron overload 2 [OMIM 609671]
—
STEEP1
ClinEX Pro
?Mental retardation, X-linked 107 [OMIM 301012]
—
STIM1
ClinEX Pro
Immunodeficiency 10; Myopathy, tubular aggregate, 1; Stormorken syndrome [OMIM 605921]
—
STING1
ClinEX Pro
STING-associated vasculopathy, infantile-onset [OMIM 612374]
—
STK4
ClinEX Pro
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations [OMIM 604965]
—
STN1
ClinEX Pro
Cerebroretinal microangiopathy with calcifications and cysts 2 [OMIM 613128]
—
STOX1
ClinEX Pro
Preeclampsia/eclampsia 4 [OMIM 609397]
—
STRA6
ClinEX Pro
Microphthalmia, isolated, with coloboma 8; Microphthalmia, syndromic 9 [OMIM 610745]
—
STRADA
ClinEX Pro
Polyhydramnios, megalencephaly, and symptomatic epilepsy [OMIM 608626]
—
TLR8
ClinEX Pro
Immunodeficiency 98 with autoinflammation, X-linked [OMIM 300366]
—
STRC
ClinEX Pro
Deafness, autosomal recessive 16 [OMIM 606440]
—
STS
ClinEX Pro
Ichthyosis, X-linked [OMIM 300747]
—
STT3A
ClinEX Pro
Congenital disorder of glycosylation, type Iw [OMIM 601134]
—
STT3B
ClinEX Pro
?Congenital disorder of glycosylation, type Ix [OMIM 608605]
—
STUB1
ClinEX Pro
?Spinocerebellar ataxia 48; Spinocerebellar ataxia, autosomal recessive 16 [OMIM 607207]
—
STX16
ClinEX Pro
Pseudohypoparathyroidism, type IB [OMIM 603666]
—
STX1B
ClinEX Pro
Generalized epilepsy with febrile seizures plus, type 9 [OMIM 601485]
—
STXBP1
ClinEX Pro
Developmental and epileptic encephalopathy 4 [OMIM 602926]
—
SUCLA2
ClinEX Pro
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) [OMIM 603921]
—
SUCLG1
ClinEX Pro
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) [OMIM 611224]
—
SUFU
ClinEX Pro
{Meningioma, familial, susceptibility to}; Basal cell nevus syndrome; Joubert syndrome 32; Medulloblastoma, desmoplastic [OMIM 607035]
—
SUGCT
ClinEX Pro
Glutaric aciduria III [OMIM 609187]
—
SULT2B1
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 14 [OMIM 604125]
—
SUMF1
ClinEX Pro
Multiple sulfatase deficiency [OMIM 607939]
—
SUMO1
ClinEX Pro
?Orofacial cleft 10 [OMIM 601912]
—
SUMO4
ClinEX Pro
{Diabetes mellitus, insulin-dependent, 5} [OMIM 608829]
—
SUN5
ClinEX Pro
Spermatogenic failure 16 [OMIM 613942]
—
SUOX
ClinEX Pro
Sulfite oxidase deficiency [OMIM 606887]
—
SVBP
ClinEX Pro
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly [OMIM 617853]
—
SVIL
ClinEX Pro
Myofibrillar myopathy 10 [OMIM 604126]
—
SYCE1
ClinEX Pro
?Premature ovarian failure 12; ?Spermatogenic failure 15 [OMIM 611486]
—
SYCP2
ClinEX Pro
Spermatogenic failure 1 [OMIM 604105]
—
SYCP3
ClinEX Pro
Pregnancy loss, recurrent, 4; Spermatogenic failure 4 [OMIM 604759]
—
SYN1
ClinEX Pro
Epilepsy, X-linked, with variable learning disabilities and behavior disorders; Intellectual developmental disorder, X-linked 50 [OMIM 313440]
—
SYN2
ClinEX Pro
{Schizophrenia, susceptibility to} [OMIM 600755]
—
SYNE1
ClinEX Pro
Arthrogryposis multiplex congenita 3, myogenic type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8 [OMIM 608441]
—
SYNE2
ClinEX Pro
Emery-Dreifuss muscular dystrophy 5, autosomal dominant [OMIM 608442]
—
SYNE4
ClinEX Pro
Deafness, autosomal recessive 76 [OMIM 615535]
—
SYNGAP1
ClinEX Pro
Mental retardation, autosomal dominant 5 [OMIM 603384]
—
SYNJ1
ClinEX Pro
Developmental and epileptic encephalopathy 53; Parkinson disease 20, early-onset [OMIM 604297]
—
SYP
ClinEX Pro
Mental retardation, X-linked 96 [OMIM 313475]
—
SYT1
ClinEX Pro
Baker-Gordon syndrome [OMIM 185605]
—
SYT14
ClinEX Pro
?Spinocerebellar ataxia, autosomal recessive 11 [OMIM 610949]
—
SYT2
ClinEX Pro
Myasthenic syndrome, congenital, 7, presynaptic [OMIM 600104]
—
SZT2
ClinEX Pro
Developmental and epileptic encephalopathy 18 [OMIM 615463]
—
TAB2
ClinEX Pro
Congenital heart defects, nonsyndromic, 2 [OMIM 605101]
—
TAC3
ClinEX Pro
Hypogonadotropic hypogonadism 10 with or without anosmia [OMIM 162330]
—
TACO1
ClinEX Pro
Mitochondrial complex IV deficiency, nuclear type 8 [OMIM 612958]
—
TACR3
ClinEX Pro
Hypogonadotropic hypogonadism 11 with or without anosmia [OMIM 162332]
—
TACSTD2
ClinEX Pro
Corneal dystrophy, gelatinous drop-like [OMIM 137290]
—
TAF1
ClinEX Pro
Dystonia-Parkinsonism, X-linked; Mental retardation, X-linked, syndromic 33 [OMIM 313650]
—
TAF13
ClinEX Pro
Mental retardation, autosomal recessive 60 [OMIM 600774]
—
TAF2
ClinEX Pro
Mental retardation, autosomal recessive 40 [OMIM 604912]
—
TAF4B
ClinEX Pro
?Spermatogenic failure 13 [OMIM 601689]
—
TAF6
ClinEX Pro
Alazami-Yuan syndrome [OMIM 602955]
—
TAFAZZIN
ClinEX Pro
Barth syndrome [OMIM 300394]
—
TAL2
ClinEX Pro
Leukemia, T-cell acute lymphocytic, somatic [OMIM 186855]
—
TNPO2
ClinEX Pro
ual developmental disorder with hypotonia, impaired speech, and dysmorph [OMIM 60In3t0e0ll2ect]
—
TALDO1
ClinEX Pro
Transaldolase deficiency [OMIM 602063]
—
TNR
ClinEX Pro
developmental disorder, nonprogressive, with spasticity and transient opisth [OMIM 601N9e9u5ro]
—
TANC2
ClinEX Pro
Intellectual developmental disorder with autistic features and language delay, with or without seizures [OMIM 615047]
—
TANGO2
ClinEX Pro
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration [OMIM 616830]
—
TAOK1
ClinEX Pro
pmental delay with or without intellectual impairment or behavioral abnorm [OMIM 610D2e6v6elo]
—
TAP1
ClinEX Pro
Bare lymphocyte syndrome, type I [OMIM 170260]
—
TAP2
ClinEX Pro
Bare lymphocyte syndrome, type I, due to TAP2 deficiency [OMIM 170261]
—
TAPBP
ClinEX Pro
Bare lymphocyte syndrome, type I [OMIM 601962]
—
TAPT1
ClinEX Pro
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type [OMIM 612758]
—
TARDBP
ClinEX Pro
Amyotrophic lateral sclerosis 10, with or without FTD; Frontotemporal lobar degeneration, TARDBP-related [OMIM 605078]
—
TARS1
ClinEX Pro
Trichothiodystrophy 7, nonphotosensitive [OMIM 187790]
—
TARS2
ClinEX Pro
?Combined oxidative phosphorylation deficiency 21 [OMIM 612805]
—
TAS2R16
ClinEX Pro
[Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} [OMIM 604867]
—
TAS2R38
ClinEX Pro
[Phenylthiocarbamide tasting] [OMIM 607751]
—
TASP1
ClinEX Pro
Suleiman-El-Hattab syndrome [OMIM 608270]
—
TBC1D20
ClinEX Pro
Warburg micro syndrome 4 [OMIM 611663]
—
TP73
ClinEX Pro
Ciliary dyskinesia, primary, 47, and lissencephaly [OMIM 601990]
—
TBC1D23
ClinEX Pro
Pontocerebellar hypoplasia, type 11 [OMIM 617687]
—
TBC1D24
ClinEX Pro
Deafness, autosomal dominant 65; Deafness, autosomal recessive 86; Developmental and epileptic encephalopathy 16; DOORS syndrome; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp; Myoclonic epilepsy, infantile, familial [OMIM 613577]
—
TBC1D2B
ClinEX Pro
Neurodevelopmental disorder with seizures and gingival overgrowth [OMIM 619152]
—
TBC1D4
ClinEX Pro
{Diabetes mellitus, noninsulin-dependent, 5} [OMIM 612465]
—
TBC1D7
ClinEX Pro
Macrocephaly/megalencephaly syndrome, autosomal recessive [OMIM 612655]
—
TBC1D8B
ClinEX Pro
Nephrotic syndrome, type 20 [OMIM 301027]
—
TBCD
ClinEX Pro
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum [OMIM 604649]
—
TBCE
ClinEX Pro
Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny- Caffey syndrome, type 1 [OMIM 604934]
—
TBCK
ClinEX Pro
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 [OMIM 616899]
—
TBK1
ClinEX Pro
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 [OMIM 604834]
—
TBL1X
ClinEX Pro
Hypothyroidism, congenital, nongoitrous, 8 [OMIM 300196]
—
TBL1Y
ClinEX Pro
?Deafness, Y-linked 2 [OMIM 400033]
—
TBP
ClinEX Pro
{Parkinson disease, susceptibility to}; Spinocerebellar ataxia 17 [OMIM 600075]
—
TBR1
ClinEX Pro
Intellectual developmental disorder with autism and speech delay [OMIM 604616]
—
TBX1
ClinEX Pro
Conotruncal anomaly face syndrome; DiGeorge syndrome; Tetralogy of Fallot; Velocardiofacial syndrome [OMIM 602054]
—
TBX15
ClinEX Pro
Cousin syndrome [OMIM 604127]
—
TBX18
ClinEX Pro
Congenital anomalies of kidney and urinary tract 2 [OMIM 604613]
—
TBX2
ClinEX Pro
Vertebral anomalies and variable endocrine and T-cell dysfunction [OMIM 600747]
—
TBX21
ClinEX Pro
{Asthma, aspirin-induced, susceptibility to}; Asthma and nasal polyps [OMIM 604895]
—
TBX22
ClinEX Pro
?Abruzzo-Erickson syndrome; Cleft palate with ankyloglossia [OMIM 300307]
—
TBX4
ClinEX Pro
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension [OMIM 601719]
—
TBX6
ClinEX Pro
Spondylocostal dysostosis 5 [OMIM 602427]
—
TBXA2R
ClinEX Pro
{Bleeding disorder, platelet-type, 13, susceptibility to} [OMIM 188070]
—
TBXAS1
ClinEX Pro
Ghosal hematodiaphyseal syndrome [OMIM 274180]
—
TBXT
ClinEX Pro
{Neural tube defects, susceptibility to}; Sacral agenesis with vertebral anomalies [OMIM 601397]
—
TCF20
ClinEX Pro
Developmental delay with variable intellectual impairment and behavioral abnormalities [OMIM 603107]
—
TCF4
ClinEX Pro
Corneal dystrophy, Fuchs endothelial, 3; Pitt-Hopkins syndrome [OMIM 602272]
—
TCHH
ClinEX Pro
?Uncombable hair syndrome 3 [OMIM 190370]
—
TCIRG1
ClinEX Pro
Osteopetrosis, autosomal recessive 1 [OMIM 604592]
—
TCL1A
ClinEX Pro
Leukemia/lymphoma, T-cell [OMIM 186960]
—
TCL1B
ClinEX Pro
Leukemia/lymphoma, T-cell [OMIM 603769]
—
TRIM8
ClinEX Pro
Focal segmental glomerulosclerosis and neurodevelopmental syndrome [OMIM 606125]
—
TCOF1
ClinEX Pro
Treacher Collins syndrome 1 [OMIM 606847]
—
TCTN1
ClinEX Pro
Joubert syndrome 13 [OMIM 609863]
—
TCTN2
ClinEX Pro
?Meckel syndrome 8; Joubert syndrome 24 [OMIM 613846]
—
TCTN3
ClinEX Pro
Joubert syndrome 18; Orofaciodigital syndrome IV [OMIM 613847]
—
TDGF1
ClinEX Pro
Forebrain defects [OMIM 187395]
—
TDO2
ClinEX Pro
[?Hypertryptophanemia] [OMIM 191070]
—
TDP1
ClinEX Pro
?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [OMIM 607198]
—
TDP2
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 23 [OMIM 605764]
—
TDRD7
ClinEX Pro
Cataract 36 [OMIM 611258]
—
TDRD9
ClinEX Pro
?Spermatogenic failure 30 [OMIM 617963]
—
TEAD1
ClinEX Pro
Sveinsson chorioretinal atrophy [OMIM 189967]
—
TECPR2
ClinEX Pro
Spastic paraplegia 49, autosomal recessive [OMIM 615000]
—
TECR
ClinEX Pro
Mental retardation, autosomal recessive 14 [OMIM 610057]
—
TEK
ClinEX Pro
Glaucoma 3, primary congenital, E; Venous malformations, multiple cutaneous and mucosal [OMIM 600221]
—
TELO2
ClinEX Pro
You-Hoover-Fong syndrome [OMIM 611140]
—
TENM3
ClinEX Pro
?Microphthalmia, isolated, with coloboma 9; Microphthalmia, syndromic 15 [OMIM 610083]
—
TENM4
ClinEX Pro
Essential tremor, hereditary, 5 [OMIM 610084]
—
TENT5A
ClinEX Pro
Osteogenesis imperfecta, type XVIII [OMIM 611357]
—
TERB1
ClinEX Pro
Spermatogenic failure 60 [OMIM 617332]
—
TERB2
ClinEX Pro
?Spermatogenic failure 59 [OMIM 617131]
—
TET3
ClinEX Pro
Beck-Fahrner syndrome [OMIM 613555]
—
TEX11
ClinEX Pro
Spermatogenic failure, X-linked, 2 [OMIM 300311]
—
TEX14
ClinEX Pro
Spermatogenic failure 23 [OMIM 605792]
—
TEX15
ClinEX Pro
Spermatogenic failure 25 [OMIM 605795]
—
TF
ClinEX Pro
Atransferrinemia [OMIM 190000]
—
TFAM
ClinEX Pro
?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) [OMIM 600438]
—
TFAP2A
ClinEX Pro
Branchiooculofacial syndrome [OMIM 107580]
—
TFAP2B
ClinEX Pro
Char syndrome; Patent ductus arteriosus 2 [OMIM 601601]
—
TFRC
ClinEX Pro
Immunodeficiency 46 [OMIM 190010]
—
TGDS
ClinEX Pro
Catel-Manzke syndrome [OMIM 616146]
—
TGFB1
ClinEX Pro
{Cystic fibrosis lung disease, modifier of}; Camurati-Engelmann disease; Inflammatory bowel disease, immunodeficiency, and encephalopathy [OMIM 190180]
—
TGFBI
ClinEX Pro
Corneal dystrophy, Avellino type; Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, Groenouw type I; Corneal dystrophy, lattice type I; Corneal dystrophy, lattice type IIIA; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, Thiel-Behnke type [OMIM 601692]
—
TGIF1
ClinEX Pro
Holoprosencephaly 4 [OMIM 602630]
—
TGM1
ClinEX Pro
Ichthyosis, congenital, autosomal recessive 1 [OMIM 190195]
—
TGM3
ClinEX Pro
?Uncombable hair syndrome 2 [OMIM 600238]
—
TGM5
ClinEX Pro
Peeling skin syndrome 2 [OMIM 603805]
—
TGM6
ClinEX Pro
Spinocerebellar ataxia 35 [OMIM 613900]
—
THAP1
ClinEX Pro
Dystonia 6, torsion [OMIM 609520]
—
THBD
ClinEX Pro
{Hemolytic uremic syndrome, atypical, susceptibility to, 6}; Thrombophilia due to thrombomodulin defect [OMIM 188040]
—
THBS2
ClinEX Pro
{Lumbar disc herniation, susceptibility to} [OMIM 188061]
—
THG1L
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 28 [OMIM 618802]
—
THOC2
ClinEX Pro
Mental retardation, X-linked 12/35 [OMIM 300395]
—
THOC6
ClinEX Pro
Beaulieu-Boycott-Innes syndrome [OMIM 615403]
—
THPO
ClinEX Pro
Thrombocythemia 1 [OMIM 600044]
—
TUBA8
ClinEX Pro
Macrothrombocytopenia, isolated, 2, autosomal dominant [OMIM 605742]
—
THRB
ClinEX Pro
Thyroid hormone resistance; Thyroid hormone resistance, autosomal recessive; Thyroid hormone resistance, selective pituitary [OMIM 190160]
—
THSD1
ClinEX Pro
?Aneurysm, intracranial berry, 12 [OMIM 616821]
—
THSD4
ClinEX Pro
Aortic aneurysm, familial thoracic 12 [OMIM 614476]
—
TIA1
ClinEX Pro
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia; Welander distal myopathy [OMIM 603518]
—
TICAM1
ClinEX Pro
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6} [OMIM 607601]
—
TIE1
ClinEX Pro
Lymphatic malformation 11 [OMIM 600222]
—
TIMM22
ClinEX Pro
?Combined oxidative phosphorylation deficiency 43 [OMIM 607251]
—
TIMM50
ClinEX Pro
3-methylglutaconic aciduria, type IX [OMIM 607381]
—
TIMM8A
ClinEX Pro
Mohr-Tranebjaerg syndrome [OMIM 300356]
—
TIMMDC1
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 31 [OMIM 615534]
—
TIMP3
ClinEX Pro
Sorsby fundus dystrophy [OMIM 188826]
—
TINF2
ClinEX Pro
Dyskeratosis congenita, autosomal dominant 3; Revesz syndrome [OMIM 604319]
—
TIRAP
ClinEX Pro
{Bacteremia, protection against}; {Malaria, protection against}; {Tuberculosis, protection against} [OMIM 606252]
—
TJP2
ClinEX Pro
Cholestasis, progressive familial intrahepatic 4; Hypercholanemia, familial 1 [OMIM 607709]
—
TK2
ClinEX Pro
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; Mitochondrial DNA depletion syndrome 2 (myopathic type) [OMIM 188250]
—
TKFC
ClinEX Pro
Triokinase and FMN cyclase deficiency syndrome [OMIM 615844]
—
TKT
ClinEX Pro
Short stature, developmental delay, and congenital heart defects [OMIM 606781]
—
TLCD3B
ClinEX Pro
Cone-rod dystrophy 22 [OMIM 615175]
—
TLE6
ClinEX Pro
Preimplantation embryonic lethality [OMIM 612399]
—
TLK2
ClinEX Pro
Mental retardation, autosomal dominant 57 [OMIM 608439]
—
TLL1
ClinEX Pro
Atrial septal defect 6 [OMIM 606742]
—
TLR1
ClinEX Pro
{Leprosy, protection against}; {Leprosy, susceptibility to, 5} [OMIM 601194]
—
TLR2
ClinEX Pro
{Colorectal cancer, susceptibility to}; {Leprosy, susceptibility to}; {Mycobacterium tuberculosis, susceptibility to} [OMIM 603028]
—
TLR3
ClinEX Pro
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}; {HIV1 infection, resistance to} [OMIM 603029]
—
TLR5
ClinEX Pro
{Legionnaire disease, susceptibility to}; {Melioidosis, susceptibility to}; {Systemic lupus erythematosus, resistance to}; {Systemic lupus erythematosus, susceptibility to, 1} [OMIM 603031]
—
TLR7
ClinEX Pro
Immunodeficiency 74, COVID19-related, X-linked [OMIM 300365]
—
TM4SF20
ClinEX Pro
{Specific language impairment 5} [OMIM 615404]
—
TMC1
ClinEX Pro
Deafness, autosomal dominant 36; Deafness, autosomal recessive 7 [OMIM 606706]
—
TMC6
ClinEX Pro
Epidermodysplasia verruciformis [OMIM 605828]
—
TMC8
ClinEX Pro
Epidermodysplasia verruciformis 2 [OMIM 605829]
—
TMCO1
ClinEX Pro
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [OMIM 614123]
—
TMEM106B
ClinEX Pro
Leukodystrophy, hypomyelinating, 16 [OMIM 613413]
—
TMEM107
ClinEX Pro
?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI [OMIM 616183]
—
TMEM126A
ClinEX Pro
Optic atrophy 7 [OMIM 612988]
—
TMEM126B
ClinEX Pro
Mitochondrial complex I deficiency, nuclear type 29 [OMIM 615533]
—
TMEM127
ClinEX Pro
{Pheochromocytoma, susceptibility to} [OMIM 613403]
—
TMEM132E
ClinEX Pro
Deafness, autosomal recessive 99 [OMIM 616178]
—
TMEM138
ClinEX Pro
Joubert syndrome 16 [OMIM 614459]
—
TMEM165
ClinEX Pro
Congenital disorder of glycosylation, type IIk [OMIM 614726]
—
TMEM199
ClinEX Pro
Congenital disorder of glycosylation, type IIp [OMIM 616815]
—
TMEM218
ClinEX Pro
Joubert syndrome 39
—
TMEM222 ENSG0
ClinEX Pro
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities [OMIM 74601796469]
—
TMEM231
ClinEX Pro
Joubert syndrome 20; Meckel syndrome 11 [OMIM 614949]
—
TMEM237
ClinEX Pro
Joubert syndrome 14 [OMIM 614423]
—
TMEM240
ClinEX Pro
Spinocerebellar ataxia 21 [OMIM 616101]
—
TMEM251 ENSG0
ClinEX Pro
Dysostosis multiplex, Ain-Naz type [OMIM 15601590332]
—
TMEM260
ClinEX Pro
Structural heart defects and renal anomalies syndrome [OMIM 617449]
—
TMEM38B
ClinEX Pro
Osteogenesis imperfecta, type XIV [OMIM 611236]
—
TMEM53 ENSG0
ClinEX Pro
Craniotubular dysplasia, Ikegawa type [OMIM 72621397722]
—
TMEM63A
ClinEX Pro
Leukodystrophy, hypomyelinating, 19, transient infantile [OMIM 618685]
—
TMEM67
ClinEX Pro
?RHYNS syndrome; {Bardet-Biedl syndrome 14, modifier of}; COACH syndrome 1; Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11 [OMIM 609884]
—
TMEM70
ClinEX Pro
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 [OMIM 612418]
—
TMEM94
ClinEX Pro
Intellectual developmental disorder with cardiac defects and dysmorphic facies [OMIM 618163]
—
TMEM98
ClinEX Pro
Nanophthalmos 4 [OMIM 615949]
—
TMIE
ClinEX Pro
Deafness, autosomal recessive 6 [OMIM 607237]
—
TMLHE
ClinEX Pro
{Autism, susceptibility to, X-linked 6} [OMIM 300777]
—
TMPRSS15
ClinEX Pro
Enterokinase deficiency [OMIM 606635]
—
TMPRSS3
ClinEX Pro
Deafness, autosomal recessive 8/10 [OMIM 605511]
—
TMPRSS6
ClinEX Pro
Iron-refractory iron deficiency anemia [OMIM 609862]
—
UQCRC1
ClinEX Pro
Parkinsonism with polyneuropathy [OMIM 191328]
—
TMTC3
ClinEX Pro
Lissencephaly 8 [OMIM 617218]
—
TMX2
ClinEX Pro
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity [OMIM 616715]
—
TNC
ClinEX Pro
Deafness, autosomal dominant 56 [OMIM 187380]
—
TNF
ClinEX Pro
{Asthma, susceptibility to}; {Dementia, vascular, susceptibility to}; {Malaria, cerebral, susceptibility to}; {Migraine without aura, susceptibility to}; {Septic shock, susceptibility to} [OMIM 191160]
—
TNFRSF10B
ClinEX Pro
Squamous cell carcinoma, head and neck [OMIM 603612]
—
TNFRSF11B
ClinEX Pro
Paget disease of bone 5, juvenile-onset [OMIM 602643]
—
TNFRSF13B
ClinEX Pro
Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 [OMIM 604907]
—
TNFRSF13C
ClinEX Pro
Immunodeficiency, common variable, 4 [OMIM 606269]
—
TNFRSF1A
ClinEX Pro
{Multiple sclerosis, susceptibility to, 5}; Periodic fever, familial [OMIM 191190]
—
TNFRSF4
ClinEX Pro
?Immunodeficiency 16 [OMIM 600315]
—
TNFSF11
ClinEX Pro
Osteopetrosis, autosomal recessive 2 [OMIM 602642]
—
TNFSF4
ClinEX Pro
{Myocardial infarction, susceptibility to} [OMIM 603594]
—
USP53
ClinEX Pro
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss [OMIM 617431]
—
TNIK
ClinEX Pro
Mental retardation, autosomal recessive 54 [OMIM 610005]
—
TNNI2
ClinEX Pro
Arthrogryposis, distal, type 2B1 [OMIM 191043]
—
TNNT1
ClinEX Pro
Nemaline myopathy 5, Amish type [OMIM 191041]
—
TNNT3
ClinEX Pro
Arthrogryposis, distal, type 2B2 [OMIM 600692]
—
TNPO3
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal dominant 2 [OMIM 610032]
—
TNRC6A
ClinEX Pro
?Epilepsy, familial adult myoclonic, 6 [OMIM 610739]
—
TNRC6B
ClinEX Pro
Global developmental delay with speech and behavioral abnormalities [OMIM 610740]
—
TNXB
ClinEX Pro
Ehlers-Danlos syndrome, classic-like, 1; Vesicoureteral reflux 8 [OMIM 600985]
—
TOE1
ClinEX Pro
Pontocerebellar hypoplasia, type 7 [OMIM 613931]
—
TOGARAM1
ClinEX Pro
Joubert syndrome 37 [OMIM 617618]
—
TONSL
ClinEX Pro
Spondyloepimetaphyseal dysplasia, sponastrime type [OMIM 604546]
—
TOP1
ClinEX Pro
DNA topoisomerase I, camptothecin-resistant [OMIM 126420]
—
TOP2A
ClinEX Pro
DNA topoisomerase II, resistance to inhibition of, by amsacrine [OMIM 126430]
—
TOP2B
ClinEX Pro
-cell immunodeficiency, distal limb anomalies, and urogenital malformation [OMIM 126431 B]
—
TOPORS
ClinEX Pro
Retinitis pigmentosa 31 [OMIM 609507]
—
TOR1A
ClinEX Pro
{Dystonia-1, modifier of}; Arthrogryposis multiplex congenita 5; Dystonia-1, torsion [OMIM 605204]
—
TOR1AIP1
ClinEX Pro
?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures [OMIM 614512]
—
TP53RK
ClinEX Pro
Galloway-Mowat syndrome 4 [OMIM 608679]
—
TPCN2
ClinEX Pro
[Skin/hair/eye pigmentation 10, blond/brown hair] [OMIM 612163]
—
TPH2
ClinEX Pro
{Attention deficit-hyperactivity disorder, susceptibility to, 7}; {Unipolar depression, susceptibility to} [OMIM 607478]
—
TPI1
ClinEX Pro
Hemolytic anemia due to triosephosphate isomerase deficiency [OMIM 190450]
—
TPM2
ClinEX Pro
Arthrogryposis, distal, type 1A; Arthrogryposis, distal, type 2B4; CAP myopathy 2; Nemaline myopathy 4, autosomal dominant [OMIM 190990]
—
TPMT
ClinEX Pro
{Thiopurines, poor metabolism of, 1} [OMIM 187680]
—
TPP1
ClinEX Pro
Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, autosomal recessive 7 [OMIM 607998]
—
VPS4A
ClinEX Pro
CIMDAG syndrome [OMIM 609982]
—
TPP2
ClinEX Pro
Immunodeficiency 78 with autoimmunity and developmental delay [OMIM 190470]
—
TPRKB
ClinEX Pro
Galloway-Mowat syndrome 5 [OMIM 608680]
—
TPRN
ClinEX Pro
Deafness, autosomal recessive 79 [OMIM 613354]
—
TRAC
ClinEX Pro
Immunodeficiency 7, TCR-alpha/beta deficient [OMIM 186880]
—
TRAF3
ClinEX Pro
{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5} [OMIM 601896]
—
TRAF3IP1
ClinEX Pro
Senior-Loken syndrome 9 [OMIM 607380]
—
TRAF3IP2
ClinEX Pro
?Candidiasis, familial, 8; {Psoriasis susceptibility 13} [OMIM 607043]
—
TRAF7
ClinEX Pro
Cardiac, facial, and digital anomalies with developmental delay [OMIM 606692]
—
TRAIP
ClinEX Pro
Seckel syndrome 9 [OMIM 605958]
—
TRAK1
ClinEX Pro
Developmental and epileptic encephalopathy 68 [OMIM 608112]
—
TRAPPC11
ClinEX Pro
Muscular dystrophy, limb-girdle, autosomal recessive 18 [OMIM 614138]
—
TRAPPC12
ClinEX Pro
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity [OMIM 614139]
—
TRAPPC14
ClinEX Pro
?Microcephaly 25, primary, autosomal recessive [OMIM 618350]
—
TRAPPC2
ClinEX Pro
Spondyloepiphyseal dysplasia tarda [OMIM 300202]
—
TRAPPC2L
ClinEX Pro
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis [OMIM 610970]
—
TRAPPC4
ClinEX Pro
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy [OMIM 610971]
—
TRAPPC6B
ClinEX Pro
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy [OMIM 610397]
—
TRAPPC9
ClinEX Pro
Mental retardation, autosomal recessive 13 [OMIM 611966]
—
TREH
ClinEX Pro
Trehalase deficiency [OMIM 275360]
—
TREM2
ClinEX Pro
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 [OMIM 605086]
—
TREX1
ClinEX Pro
{Systemic lupus erythematosus, susceptibility to}; Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations [OMIM 606609]
—
TRH
ClinEX Pro
Thyrotropin-releasing hormone deficiency [OMIM 613879]
—
TRHR
ClinEX Pro
Hypothyroidism, congenital, nongoitrous, 7 [OMIM 188545]
—
TRIM2
ClinEX Pro
Charcot-Marie-Tooth disease, type 2R [OMIM 614141]
—
TRIM32
ClinEX Pro
?Bardet-Biedl syndrome 11; Muscular dystrophy, limb-girdle, autosomal recessive 8 [OMIM 602290]
—
TRIM36
ClinEX Pro
?Anencephaly [OMIM 609317]
—
TRIM37
ClinEX Pro
Mulibrey nanism [OMIM 605073]
—
TRIM44
ClinEX Pro
?Aniridia 3 [OMIM 612298]
—
TRIM71
ClinEX Pro
Hydrocephalus, congenital communicating, 1 [OMIM 618570]
—
TRIO
ClinEX Pro
Intellectual developmental disorder, autosomal dominant 44, with microcephaly; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [OMIM 601893]
—
TRIOBP
ClinEX Pro
Deafness, autosomal recessive 28 [OMIM 609761]
—
TRIP11
ClinEX Pro
Achondrogenesis, type IA; Odontochondrodysplasia 1 [OMIM 604505]
—
TRIP12
ClinEX Pro
Mental retardation, autosomal dominant 49 [OMIM 604506]
—
TRIP13
ClinEX Pro
Mosaic variegated aneuploidy syndrome 3; Oocyte maturation defect 9 [OMIM 604507]
—
TRIP4
ClinEX Pro
?Muscular dystrophy, congenital, Davignon-Chauveau type; Spinal muscular atrophy with congenital bone fractures 1 [OMIM 604501]
—
TRIT1
ClinEX Pro
Combined oxidative phosphorylation deficiency 35 [OMIM 617840]
—
TRMT1
ClinEX Pro
Mental retardation, autosomal recessive 68 [OMIM 611669]
—
TRMT10A
ClinEX Pro
Microcephaly, short stature, and impaired glucose metabolism 1 [OMIM 616013]
—
TRMT10C
ClinEX Pro
Combined oxidative phosphorylation deficiency 30 [OMIM 615423]
—
TRMT5
ClinEX Pro
Combined oxidative phosphorylation deficiency 26 [OMIM 611023]
—
TRMU
ClinEX Pro
{Deafness, mitochondrial, modifier of}; Liver failure, transient infantile [OMIM 610230]
—
TRNT1
ClinEX Pro
Retinitis pigmentosa and erythrocytic microcytosis; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay [OMIM 612907]
—
TRPA1
ClinEX Pro
?Episodic pain syndrome, familial, 1 [OMIM 604775]
—
TRPC3
ClinEX Pro
?Spinocerebellar ataxia 41 [OMIM 602345]
—
TRPC6
ClinEX Pro
Glomerulosclerosis, focal segmental, 2 [OMIM 603652]
—
TRPM1
ClinEX Pro
Night blindness, congenital stationary (complete), 1C, autosomal recessive [OMIM 603576]
—
TRPM6
ClinEX Pro
Hypomagnesemia 1, intestinal [OMIM 607009]
—
TRPS1
ClinEX Pro
Trichorhinophalangeal syndrome, type I; Trichorhinophalangeal syndrome, type III [OMIM 604386]
—
TRPV3
ClinEX Pro
?Palmoplantar keratoderma, nonepidermolytic, focal 2; Olmsted syndrome 1 [OMIM 607066]
—
TRPV4
ClinEX Pro
?Avascular necrosis of femoral head, primary, 2; [Sodium serum level QTL 1]; Brachyolmia type 3; Digital arthropathy-brachydactyly, familial; Hereditary motor and sensory neuropathy, type IIc; Metatropic dysplasia; Neuronopathy, distal hereditary motor, type VIII; Parastremmatic dwarfism; Scapuloperoneal spinal muscular atrophy; SED, Maroteaux type; Spondylometaphyseal dysplasia, Kozlowski type [OMIM 605427]
—
TRPV6
ClinEX Pro
Hyperparathyroidism, transient neonatal [OMIM 606680]
—
TRRAP
ClinEX Pro
?Deafness, autosomal dominant 75; Developmental delay with or without dysmorphic facies and autism [OMIM 603015]
—
TSEN15
ClinEX Pro
Pontocerebellar hypoplasia, type 2F [OMIM 608756]
—
TSEN2
ClinEX Pro
Pontocerebellar hypoplasia type 2B [OMIM 608753]
—
TSEN34
ClinEX Pro
?Pontocerebellar hypoplasia type 2C [OMIM 608754]
—
TSEN54
ClinEX Pro
?Pontocerebellar hypoplasia type 5; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4 [OMIM 608755]
—
TSFM
ClinEX Pro
Combined oxidative phosphorylation deficiency 3 [OMIM 604723]
—
TSGA10
ClinEX Pro
?Spermatogenic failure 26 [OMIM 607166]
—
TSHZ1
ClinEX Pro
Aural atresia, congenital [OMIM 614427]
—
TSPAN12
ClinEX Pro
Exudative vitreoretinopathy 5 [OMIM 613138]
—
TSPAN7
ClinEX Pro
Mental retardation, X-linked 58 [OMIM 300096]
—
TSPEAR
ClinEX Pro
?Deafness, autosomal recessive 98; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis [OMIM 612920]
—
TSPYL1
ClinEX Pro
Sudden infant death with dysgenesis of the testes syndrome [OMIM 604714]
—
TTBK2
ClinEX Pro
Spinocerebellar ataxia 11 [OMIM 611695]
—
TTC12
ClinEX Pro
Ciliary dyskinesia, primary, 45 [OMIM 610732]
—
TTC19
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 2 [OMIM 613814]
—
TTC21A
ClinEX Pro
Spermatogenic failure 37 [OMIM 611430]
—
TTC21B
ClinEX Pro
Nephronophthisis 12; Short-rib thoracic dysplasia 4 with or without polydactyly [OMIM 612014]
—
TTC26
ClinEX Pro
Biliary, renal, neurologic, and skeletal syndrome [OMIM 617453]
—
TTC29
ClinEX Pro
Spermatogenic failure 42 [OMIM 618735]
—
TTC5
ClinEX Pro
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism [OMIM 619014]
—
TTC8
ClinEX Pro
?Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 [OMIM 608132]
—
TTI2
ClinEX Pro
Mental retardation, autosomal recessive 39 [OMIM 614426]
—
TTLL5
ClinEX Pro
Cone-rod dystrophy 19 [OMIM 612268]
—
TTPA
ClinEX Pro
Ataxia with isolated vitamin E deficiency [OMIM 600415]
—
TUB
ClinEX Pro
?Retinal dystrophy and obesity [OMIM 601197]
—
TUBA1A
ClinEX Pro
Lissencephaly 3 [OMIM 602529]
—
TUBA3D
ClinEX Pro
Keratoconus 9 [OMIM 617878]
—
TUBA4A
ClinEX Pro
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia [OMIM 191110]
—
TUBB
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 6; Symmetric circumferential skin creases, congenital, 1 [OMIM 191130]
—
TUBB1
ClinEX Pro
Macrothrombocytopenia, autosomal dominant, TUBB1-related [OMIM 612901]
—
TUBB2A
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 5 [OMIM 615101]
—
TUBB2B
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 7 [OMIM 612850]
—
TUBB3
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 1; Fibrosis of extraocular muscles, congenital, 3A [OMIM 602661]
—
TUBB4A
ClinEX Pro
Dystonia 4, torsion, autosomal dominant; Leukodystrophy, hypomyelinating, 6 [OMIM 602662]
—
TUBB4B
ClinEX Pro
Leber congenital amaurosis with early-onset deafness [OMIM 602660]
—
TUBB6
ClinEX Pro
?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction [OMIM 615103]
—
TUBB8
ClinEX Pro
Oocyte maturation defect 2 [OMIM 616768]
—
TUBG1
ClinEX Pro
Cortical dysplasia, complex, with other brain malformations 4 [OMIM 191135]
—
TUBGCP2
ClinEX Pro
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures [OMIM 617817]
—
TUBGCP4
ClinEX Pro
Microcephaly and chorioretinopathy, autosomal recessive, 3 [OMIM 609610]
—
TUBGCP6
ClinEX Pro
Microcephaly and chorioretinopathy, autosomal recessive, 1 [OMIM 610053]
—
TUFM
ClinEX Pro
Combined oxidative phosphorylation deficiency 4 [OMIM 602389]
—
TULP1
ClinEX Pro
Leber congenital amaurosis 15; Retinitis pigmentosa 14 [OMIM 602280]
—
ZMYM2
ClinEX Pro
developmental-craniofacial syndrome with variable renal and cardiac abnor [OMIM 602N2e2u1ro]
—
TULP3
ClinEX Pro
Hepatorenocardiac degenerative fibrosis [OMIM 604730]
—
TUSC3
ClinEX Pro
Mental retardation, autosomal recessive 7 [OMIM 601385]
—
TWIST1
ClinEX Pro
Craniosynostosis 1; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome with or without eyelid anomalies; Sweeney-Cox syndrome [OMIM 601622]
—
TWIST2
ClinEX Pro
Ablepharon-macrostomia syndrome; Barber-Say syndrome; Focal facial dermal dysplasia 3, Setleis type [OMIM 607556]
—
TWNK
ClinEX Pro
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Perrault syndrome 5; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 [OMIM 606075]
—
TXN2
ClinEX Pro
?Combined oxidative phosphorylation deficiency 29 [OMIM 609063]
—
TXNDC15
ClinEX Pro
Meckel syndrome 14 [OMIM 617778]
—
TXNL4A
ClinEX Pro
Burn-McKeown syndrome [OMIM 611595]
—
TYK2
ClinEX Pro
Immunodeficiency 35 [OMIM 176941]
—
TYMP
ClinEX Pro
Mitochondrial DNA depletion syndrome 1 (MNGIE type) [OMIM 131222]
—
TYR
ClinEX Pro
[Skin/hair/eye pigmentation 3, blue/green eyes]; [Skin/hair/eye pigmentation 3, light/dark/freckling skin]; {Melanoma, cutaneous malignant, susceptibility to, 8}; Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB; Waardenburg syndrome/albinism, digenic [OMIM 606933]
—
TYROBP
ClinEX Pro
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [OMIM 604142]
—
TYRP1
ClinEX Pro
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)]; Albinism, oculocutaneous, type III [OMIM 115501]
—
UBA1
ClinEX Pro
Spinal muscular atrophy, X-linked 2, infantile; VEXAS syndrome, somatic [OMIM 314370]
—
ZNF526
ClinEX Pro
Dentici-Novelli neurodevelopmental syndrome [OMIM 614387]
—
UBA5
ClinEX Pro
?Spinocerebellar ataxia, autosomal recessive 24; Developmental and epileptic encephalopathy 44 [OMIM 610552]
—
UBAP1
ClinEX Pro
Spastic paraplegia 80, autosomal dominant [OMIM 609787]
—
UBE2A
ClinEX Pro
Mental retardation, X-linked syndromic, Nascimento-type [OMIM 312180]
—
UBE3A
ClinEX Pro
Angelman syndrome [OMIM 601623]
—
UBE3B
ClinEX Pro
Kaufman oculocerebrofacial syndrome [OMIM 608047]
—
UBE4A
ClinEX Pro
eurodevelopmental disorder with hypotonia and gross motor and seech del [OMIM 603753N]
—
UBIAD1
ClinEX Pro
Corneal dystrophy, Schnyder type [OMIM 611632]
—
ZPBP
ClinEX Pro
?Spermatogenic failure 66 [OMIM 608498]
—
UBQLN2
ClinEX Pro
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia [OMIM 300264]
—
UBR1
ClinEX Pro
Johanson-Blizzard syndrome [OMIM 605981]
—
UBR7
ClinEX Pro
Li-Campeau syndrome [OMIM 613816]
—
UBTF
ClinEX Pro
Neurodegeneration, childhood-onset, with brain atrophy [OMIM 600673]
—
UCHL1
ClinEX Pro
{?Parkinson disease 5, susceptibility to}; Spastic paraplegia 79, autosomal recessive [OMIM 191342]
—
UCP3
ClinEX Pro
{Obesity, severe, and type II diabetes} [OMIM 602044]
—
UFC1
ClinEX Pro
Neurodevelopmental disorder with spasticity and poor growth [OMIM 610554]
—
UFM1
ClinEX Pro
Leukodystrophy, hypomyelinating, 14 [OMIM 610553]
—
UFSP2
ClinEX Pro
?Hip dysplasia, Beukes type; ?Spondyloepimetaphyseal dysplasia, Di Rocco type [OMIM 611482]
—
UGDH
ClinEX Pro
Developmental and epileptic encephalopathy 84 [OMIM 603370]
—
UGP2
ClinEX Pro
Developmental and epileptic encephalopathy 83 [OMIM 191760]
—
UGT1A1
ClinEX Pro
[Bilirubin, serum level of, QTL1]; [Gilbert syndrome]; Crigler-Najjar syndrome, type I; Crigler-Najjar syndrome, type II; Hyperbilirubinemia, familial transient neonatal [OMIM 191740]
—
UGT2B17
ClinEX Pro
{Bone mineral density QTL 12, osteoporosis} [OMIM 601903]
—
UMOD
ClinEX Pro
Tubulointerstitial kidney disease, autosomal dominant, 1 [OMIM 191845]
—
UMPS
ClinEX Pro
Orotic aciduria [OMIM 613891]
—
UNC119
ClinEX Pro
?Cone-rod dystrophy; ?Immunodeficiency 13 [OMIM 604011]
—
UNC45A
ClinEX Pro
Osteootohepatoenteric syndrome [OMIM 611219]
—
UNC45B
ClinEX Pro
?Cataract 43; Myofibrillar myopathy 11 [OMIM 611220]
—
UNC80
ClinEX Pro
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 [OMIM 612636]
—
UNC93B1
ClinEX Pro
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} [OMIM 608204]
—
UNG
ClinEX Pro
Immunodeficiency with hyper IgM, type 5 [OMIM 191525]
—
UOX
ClinEX Pro
[Urate oxidase deficiency] [OMIM 191540]
—
UPB1
ClinEX Pro
Beta-ureidopropionase deficiency [OMIM 606673]
—
UPF3B
ClinEX Pro
Mental retardation, X-linked, syndromic 14 [OMIM 300298]
—
UQCC2
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 7 [OMIM 614461]
—
UQCC3
ClinEX Pro
?Mitochondrial complex III deficiency, nuclear type 9 [OMIM 616097]
—
UQCRB
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 3 [OMIM 191330]
—
UQCRC2
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 5 [OMIM 191329]
—
UQCRFS1
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 10 [OMIM 191327]
—
UQCRQ
ClinEX Pro
Mitochondrial complex III deficiency, nuclear type 4 [OMIM 612080]
—
UROC1
ClinEX Pro
?Urocanase deficiency [OMIM 613012]
—
UROD
ClinEX Pro
Porphyria cutanea tarda; Porphyria, hepatoerythropoietic [OMIM 613521]
—
UROS
ClinEX Pro
Porphyria, congenital erythropoietic [OMIM 606938]
—
USB1
ClinEX Pro
Poikiloderma with neutropenia [OMIM 613276]
—
USF1
ClinEX Pro
{Hyperlipidemia, familial combined, susceptibility to} [OMIM 191523]
—
USH1C
ClinEX Pro
Deafness, autosomal recessive 18A; Usher syndrome, type 1C [OMIM 605242]
—
USP18
ClinEX Pro
Pseudo-TORCH syndrome 2 [OMIM 607057]
—
USP27X
ClinEX Pro
Mental retardation, X-linked 105 [OMIM 300975]
—
USP45
ClinEX Pro
?Leber congenital amaurosis 19 [OMIM 618439]
—
USP7
ClinEX Pro
Hao-Fountain syndrome [OMIM 602519]
—
USP8
ClinEX Pro
Pituitary adenoma 4, ACTH-secreting, somatic [OMIM 603158]
—
USP9X
ClinEX Pro
Mental retardation, X-linked 99; Mental retardation, X-linked 99, syndromic, female-restricted [OMIM 300072]
—
USP9Y
ClinEX Pro
Spermatogenic failure, Y-linked, 2 [OMIM 400005]
—
UVSSA
ClinEX Pro
UV-sensitive syndrome 3 [OMIM 614632]
—
VAC14
ClinEX Pro
Striatonigral degeneration, childhood-onset [OMIM 604632]
—
VAMP2
ClinEX Pro
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements [OMIM 185881]
—
VANGL1
ClinEX Pro
{Neural tube defects, susceptibility to}; Caudal regression syndrome [OMIM 610132]
—
VANGL2
ClinEX Pro
Neural tube defects [OMIM 600533]
—
VAPB
ClinEX Pro
Amyotrophic lateral sclerosis 8; Spinal muscular atrophy, late-onset, Finkel type [OMIM 605704]
—
VARS1
ClinEX Pro
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy [OMIM 192150]
—
VARS2
ClinEX Pro
Combined oxidative phosphorylation deficiency 20 [OMIM 612802]
—
VAX1
ClinEX Pro
?Microphthalmia, syndromic 11 [OMIM 604294]
—
VCAN
ClinEX Pro
Wagner syndrome 1 [OMIM 118661]
—
VCP
ClinEX Pro
Charcot-Marie-Tooth disease, type 2Y; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 [OMIM 601023]
—
VEGFA
ClinEX Pro
{Microvascular complications of diabetes 1} [OMIM 192240]
—
VEGFC
ClinEX Pro
Lymphatic malformation 4 [OMIM 601528]
—
VIM
ClinEX Pro
Cataract 30, pulverulent [OMIM 193060]
—
VIPAS39
ClinEX Pro
Arthrogryposis, renal dysfunction, and cholestasis 2 [OMIM 613401]
—
VKORC1
ClinEX Pro
Vitamin K-dependent clotting factors, combined deficiency of, 2; Warfarin resistance [OMIM 608547]
—
VLDLR
ClinEX Pro
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 [OMIM 192977]
—
VMA21
ClinEX Pro
Myopathy, X-linked, with excessive autophagy [OMIM 300913]
—
VNN1
ClinEX Pro
[High density lipoprotein cholesterol level QTL 8] [OMIM 603570]
—
VPS11
ClinEX Pro
Leukodystrophy, hypomyelinating, 12 [OMIM 608549]
—
VPS13A
ClinEX Pro
Choreoacanthocytosis [OMIM 605978]
—
VPS13B
ClinEX Pro
Cohen syndrome [OMIM 607817]
—
VPS13C
ClinEX Pro
Parkinson disease 23, autosomal recessive, early onset [OMIM 608879]
—
VPS13D
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 4 [OMIM 608877]
—
VPS16
ClinEX Pro
Dystonia 30 [OMIM 608550]
—
VPS33A
ClinEX Pro
Mucopolysaccharidosis-plus syndrome [OMIM 610034]
—
VPS33B
ClinEX Pro
Arthrogryposis, renal dysfunction, and cholestasis 1 [OMIM 608552]
—
VPS35
ClinEX Pro
{Parkinson disease 17} [OMIM 601501]
—
VPS35L
ClinEX Pro
Ritscher-Schinzel syndrome 3 [OMIM 618981]
—
VPS37A
ClinEX Pro
Spastic paraplegia 53, autosomal recessive [OMIM 609927]
—
VPS41
ClinEX Pro
Spinocerebellar ataxia, autosomal recessive 29 [OMIM 605485]
—
VPS50
ClinEX Pro
rodevelopmental disorder with microcephaly, seizures, and neonatal choles [OMIM 61646N5eu]
—
VPS51
ClinEX Pro
Pontocerebellar hypoplasia, type 13 [OMIM 615738]
—
VPS53
ClinEX Pro
Pontocerebellar hypoplasia, type 2E [OMIM 615850]
—
VRK1
ClinEX Pro
Pontocerebellar hypoplasia type 1A [OMIM 602168]
—
VSX1
ClinEX Pro
?Craniofacial anomalies and anterior segment dysgenesis syndrome; Keratoconus 1 [OMIM 605020]
—
VSX2
ClinEX Pro
Microphthalmia with coloboma 3; Microphthalmia, isolated 2 [OMIM 142993]
—
VWA1
ClinEX Pro
Neuropathy, hereditary motor, with myopathic features [OMIM 611901]
—
VWA3B
ClinEX Pro
?Spinocerebellar ataxia, autosomal recessive 22 [OMIM 614884]
—
VWF
ClinEX Pro
von Willebrand disease, type 1; von Willebrand disease, type 3; von Willebrand disease, types 2A, 2B, 2M, and 2N [OMIM 613160]
—
WAC
ClinEX Pro
Desanto-Shinawi syndrome [OMIM 615049]
—
WARS1
ClinEX Pro
Neuronopathy, distal hereditary motor, type IX [OMIM 191050]
—
WARS2
ClinEX Pro
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures [OMIM 604733]
—
WASF1
ClinEX Pro
Neurodevelopmental disorder with absent language and variable seizures [OMIM 605035]
—
WASHC4
ClinEX Pro
?Mental retardation, autosomal recessive 43 [OMIM 615748]
—
WASHC5
ClinEX Pro
Ritscher-Schinzel syndrome 1; Spastic paraplegia 8, autosomal dominant [OMIM 610657]
—
WBP11
ClinEX Pro
Vertebral, cardiac, tracheoesophageal, renal, and limb defects [OMIM 618083]
—
WBP2
ClinEX Pro
Deafness, autosomal recessive 107 [OMIM 606962]
—
WDFY3
ClinEX Pro
?Microcephaly 18, primary, autosomal dominant [OMIM 617485]
—
WDPCP
ClinEX Pro
?Bardet-Biedl syndrome 15; Congenital heart defects, hamartomas of tongue, and polysyndactyly [OMIM 613580]
—
WDR1
ClinEX Pro
Periodic fever, immunodeficiency, and thrombocytopenia syndrome [OMIM 604734]
—
WDR11
ClinEX Pro
Hypogonadotropic hypogonadism 14 with or without anosmia [OMIM 606417]
—
WDR19
ClinEX Pro
?Cranioectodermal dysplasia 4; ?Short-rib thoracic dysplasia 5 with or without polydactyly; Nephronophthisis 13; Senior-Loken syndrome 8 [OMIM 608151]
—
WDR26
ClinEX Pro
Skraban-Deardorff syndrome [OMIM 617424]
—
WDR35
ClinEX Pro
Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly [OMIM 613602]
—
WDR36
ClinEX Pro
Glaucoma 1, open angle, G [OMIM 609669]
—
WDR37
ClinEX Pro
Neurooculocardiogenitourinary syndrome [OMIM 618586]
—
WDR4
ClinEX Pro
Galloway-Mowat syndrome 6; Microcephaly, growth deficiency, seizures, and brain malformations [OMIM 605924]
—
WDR45
ClinEX Pro
Neurodegeneration with brain iron accumulation 5 [OMIM 300526]
—
WDR45B
ClinEX Pro
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures [OMIM 609226]
—
WDR62
ClinEX Pro
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations [OMIM 613583]
—
WDR72
ClinEX Pro
Amelogenesis imperfecta, type IIA3 [OMIM 613214]
—
WDR73
ClinEX Pro
Galloway-Mowat syndrome 1 [OMIM 616144]
—
WDR81
ClinEX Pro
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies [OMIM 614218]
—
WEE2
ClinEX Pro
Oocyte maturation defect 5 [OMIM 614084]
—
WFS1
ClinEX Pro
?Cataract 41; {Diabetes mellitus, noninsulin-dependent, association with}; Deafness, autosomal dominant 6/14/38; Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant [OMIM 606201]
—
WHRN
ClinEX Pro
Deafness, autosomal recessive 31; Usher syndrome, type 2D [OMIM 607928]
—
WIPI2
ClinEX Pro
?Intellectual developmental disorder with short stature and variable skeletal anomalies [OMIM 609225]
—
WLS
ClinEX Pro
Zaki syndrome [OMIM 611514]
—
WNK1
ClinEX Pro
Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC [OMIM 605232]
—
WNK4
ClinEX Pro
Pseudohypoaldosteronism, type IIB [OMIM 601844]
—
WNT1
ClinEX Pro
{Osteoporosis, early-onset, susceptibility to, autosomal dominant}; Osteogenesis imperfecta, type XV [OMIM 164820]
—
WNT10A
ClinEX Pro
Odontoonychodermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 [OMIM 606268]
—
WNT10B
ClinEX Pro
Split-hand/foot malformation 6; Tooth agenesis, selective, 8 [OMIM 601906]
—
WNT2B
ClinEX Pro
Diarrhea 9 [OMIM 601968]
—
WNT3
ClinEX Pro
?Tetra-amelia syndrome 1 [OMIM 165330]
—
WNT4
ClinEX Pro
?SERKAL syndrome; Mullerian aplasia and hyperandrogenism [OMIM 603490]
—
WNT5A
ClinEX Pro
Robinow syndrome, autosomal dominant 1 [OMIM 164975]
—
WNT7A
ClinEX Pro
Fuhrmann syndrome; Ulna and fibula, absence of, with severe limb deficiency [OMIM 601570]
—
WRAP53
ClinEX Pro
Dyskeratosis congenita, autosomal recessive 3 [OMIM 612661]
—
WWC1
ClinEX Pro
[Memory, enhanced, QTL] [OMIM 610533]
—
WWOX
ClinEX Pro
Developmental and epileptic encephalopathy 28; Esophageal squamous cell carcinoma, somatic; Spinocerebellar ataxia, autosomal recessive 12 [OMIM 605131]
—
XBP1
ClinEX Pro
{Major affective disorder-7, susceptibility to} [OMIM 194355]
—
XDH
ClinEX Pro
Xanthinuria, type I [OMIM 607633]
—
XG
ClinEX Pro
[Blood group, XG system] [OMIM 300879]
—
XIST
ClinEX Pro
X-inactivation, familial skewed [OMIM 314670]
—
XK
ClinEX Pro
McLeod syndrome with or without chronic granulomatous disease [OMIM 314850]
—
XPA
ClinEX Pro
Xeroderma pigmentosum, group A [OMIM 611153]
—
XPNPEP2
ClinEX Pro
{Angioedema induced by ACE inhibitors, susceptibility to} [OMIM 300145]
—
XPNPEP3
ClinEX Pro
Nephronophthisis-like nephropathy 1 [OMIM 613553]
—
XPR1
ClinEX Pro
Basal ganglia calcification, idiopathic, 6 [OMIM 605237]
—
XRCC1
ClinEX Pro
?Spinocerebellar ataxia, autosomal recessive 26 [OMIM 194360]
—
XRCC3
ClinEX Pro
{Breast cancer, susceptibility to}; {Melanoma, cutaneous malignant, 6} [OMIM 600675]
—
XRCC4
ClinEX Pro
Short stature, microcephaly, and endocrine dysfunction [OMIM 194363]
—
XYLT1
ClinEX Pro
{Pseudoxanthoma elasticum, modifier of severity of}; Desbuquois dysplasia 2 [OMIM 608124]
—
XYLT2
ClinEX Pro
{Pseudoxanthoma elasticum, modifier of severity of}; Spondyloocular syndrome [OMIM 608125]
—
YAP1
ClinEX Pro
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation [OMIM 606608]
—
YARS1
ClinEX Pro
Charcot-Marie-Tooth disease, dominant intermediate C [OMIM 603623]
—
YARS2
ClinEX Pro
Myopathy, lactic acidosis, and sideroblastic anemia 2 [OMIM 610957]
—
YEATS2
ClinEX Pro
?Epilepsy, myoclonic, familial adult, 4 [OMIM 613373]
—
YIF1B
ClinEX Pro
Kaya-Barakat-Masson syndrome [OMIM 619109]
—
YIPF5
ClinEX Pro
Microcephaly, epilepsy, and diabetes syndrome 2 [OMIM 611483]
—
YME1L1
ClinEX Pro
?Optic atrophy 11 [OMIM 607472]
—
YRDC
ClinEX Pro
Galloway-Mowat syndrome 10 [OMIM 612276]
—
YWHAG
ClinEX Pro
Developmental and epileptic encephalopathy 56 [OMIM 605356]
—
YY1AP1
ClinEX Pro
Grange syndrome [OMIM 607860]
—
ZBTB11
ClinEX Pro
Intellectual developmental disorder, autosomal recessive 69 [OMIM 618181]
—
ZBTB16
ClinEX Pro
Leukemia, acute promyelocytic, PL2F/RARA type; Skeletal defects, genital hypoplasia, and mental retardation [OMIM 176797]
—
ZBTB18
ClinEX Pro
Mental retardation, autosomal dominant 22 [OMIM 608433]
—
ZBTB20
ClinEX Pro
Primrose syndrome [OMIM 606025]
—
ZBTB24
ClinEX Pro
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [OMIM 614064]
—
ZBTB42
ClinEX Pro
?Lethal congenital contracture syndrome 6 [OMIM 613915]
—
ZC3H14
ClinEX Pro
Mental retardation, autosomal recessive 56 [OMIM 613279]
—
ZC4H2
ClinEX Pro
Wieacker-Wolff syndrome; Wieacker-Wolff syndrome, female-restricted [OMIM 300897]
—
ZDHHC9
ClinEX Pro
Mental retardation, X-linked syndromic, Raymond type [OMIM 300646]
—
ZEB1
ClinEX Pro
Corneal dystrophy, Fuchs endothelial, 6; Corneal dystrophy, posterior polymorphous, 3 [OMIM 189909]
—
ZEB2
ClinEX Pro
Mowat-Wilson syndrome [OMIM 605802]
—
ZFAT
ClinEX Pro
{Autoimmune thyroid disease, susceptibility to, 3} [OMIM 610931]
—
ZFHX2
ClinEX Pro
?Marsili syndrome [OMIM 617828]
—
ZFHX3
ClinEX Pro
Prostate cancer, somatic [OMIM 104155]
—
ZFHX4
ClinEX Pro
?Ptosis, congenital [OMIM 606940]
—
ZFP57
ClinEX Pro
Diabetes mellitus, transient neonatal 1 [OMIM 612192]
—
ZFPM2
ClinEX Pro
46XY sex reversal 9; Diaphragmatic hernia 3; Tetralogy of Fallot [OMIM 603693]
—
ZFYVE19 ENSG0
ClinEX Pro
Cholestasis, progressive familial intrahepatic, 9 [OMIM 55631491635]
—
ZFYVE26
ClinEX Pro
Spastic paraplegia 15, autosomal recessive [OMIM 612012]
—
ZFYVE27
ClinEX Pro
Spastic paraplegia 33, autosomal dominant [OMIM 610243]
—
ZIC1
ClinEX Pro
?Craniosynostosis 6; Structural brain anomalies with impaired intellectual development and craniosynostosis [OMIM 600470]
—
ZIC2
ClinEX Pro
Holoprosencephaly 5 [OMIM 603073]
—
ZMIZ1
ClinEX Pro
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies [OMIM 607159]
—
ZMPSTE24
ClinEX Pro
Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy, lethal [OMIM 606480]
—
ZMYND10
ClinEX Pro
Ciliary dyskinesia, primary, 22 [OMIM 607070]
—
ZMYND11
ClinEX Pro
Mental retardation, autosomal dominant 30 [OMIM 608668]
—
ZMYND15
ClinEX Pro
?Spermatogenic failure 14 [OMIM 614312]
—
ZNF141
ClinEX Pro
?Polydactyly, postaxial, type A6 [OMIM 194648]
—
ZNF142
ClinEX Pro
Neurodevelopmental disorder with impaired speech and hyperkinetic movements [OMIM 604083]
—
ZNF148
ClinEX Pro
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies [OMIM 601897]
—
ZNF292
ClinEX Pro
Intellectual developmental disorder, autosomal dominant 64 [OMIM 616213]
—
ZNF335
ClinEX Pro
Microcephaly 10, primary, autosomal recessive [OMIM 610827]
—
ZNF341
ClinEX Pro
Hyper-IgE recurrent infection syndrome 3, autosomal recessive [OMIM 618269]
—
ZNF365
ClinEX Pro
{Nephrolithiasis, uric acid, susceptibility to} [OMIM 607818]
—
ZNF408
ClinEX Pro
?Exudative vitreoretinopathy 6; Retinitis pigmentosa 72 [OMIM 616454]
—
ZNF423
ClinEX Pro
Joubert syndrome 19; Nephronophthisis 14 [OMIM 604557]
—
ZNF462
ClinEX Pro
Weiss-Kruszka syndrome [OMIM 617371]
—
ZNF469
ClinEX Pro
Brittle cornea syndrome 1 [OMIM 612078]
—
ZNF513
ClinEX Pro
?Retinitis pigmentosa 58 [OMIM 613598]
—
ZNF644
ClinEX Pro
Myopia 21, autosomal dominant [OMIM 614159]
—
ZNF687
ClinEX Pro
Paget disease of bone 6 [OMIM 610568]
—
ZNF699
ClinEX Pro
DEGCAGS syndrome [OMIM 609571]
—
ZNF711
ClinEX Pro
Mental retardation, X-linked 97 [OMIM 314990]
—
ZNF750
ClinEX Pro
Seborrhea-like dermatitis with psoriasiform elements [OMIM 610226]
—
ZNFX1
ClinEX Pro
Immunodeficiency 91 and hyperinflammation [OMIM 618931]
—
ZNHIT3
ClinEX Pro
PEHO syndrome [OMIM 604500]
—
ZP1
ClinEX Pro
Oocyte maturation defect 1 [OMIM 195000]
—
ZP2
ClinEX Pro
Oocyte maturation defect 6 [OMIM 182888]
—
ZP3
ClinEX Pro
Oocyte maturation defect 3 [OMIM 182889]
—
ZPR1
ClinEX Pro
?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies [OMIM 603901]
—
ZSWIM6
ClinEX Pro
Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features [OMIM 615951]
—
ZSWIM7
ClinEX Pro
?Ovarian dysgenesis 10 [OMIM 614535]
—
Panel composition, exact gene content and reportable findings are reviewed and finalized per assay validation — this database is a reference guide, not a final report. For current panel contents and to request testing, see our cancer genomics services or request a quote.
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