Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 1.000 None 0.978 113 204 1997 2020
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		disease 0.700 None 0.978 113 45 1978 2020
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 1.000 definitive 0.977 110 81 1981 2020
Entrez Id: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease 0.800 strong 0.993 108 209 1970 2020
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		cadherin 1 0.401 0.808 0.15
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease 0.800 definitive 0.972 99 107 1990 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.500 None 0.994 94 49 1996 2020
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 0.800 None 0.989 94 62 1982 2020
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		disease 1.000 definitive 1.000 90 95 1988 2020
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease 		disease 1.000 None 0.972 87 89 1976 2020
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.800 None 0.970 84 220 2006 2020
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.800 definitive 0.979 78 73 1994 2020
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		disease 1.000 definitive 0.989 77 108 1985 2020
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease 1.000 strong 0.961 73 154 1989 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 0.983 68 23 2000 2020
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		disease 0.800 None 0.992 67 80 1973 2020
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		disease 0.700 None 1.000 66 44 1993 2020
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		disease 1.000 definitive 0.990 65 126 1956 2020
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A 		disease 0.800 strong 1.000 64 91 1991 2020
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease 0.800 None 0.983 63 21 1982 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		disease 0.900 strong 0.985 62 40 1973 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease 0.900 None 0.993 62 33 1995 2020
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease 0.800 None 0.986 60 151 1984 2020
Entrez Id: 178
Gene Symbol: AGL
AGL 		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 1.000 None 0.988 59 123 1987 2020
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease 1.000 None 1.000 59 94 1970 2020
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		dysferlin 0.582 0.692 3.7E-33
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		disease 0.200 None 1.000 59 57 1998 2020