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: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		disease 1.000 None 0.994 53 16 1998 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		disease 1.000 None 1.000 53 91 1991 2019
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		glycogen phosphorylase, muscle associated 0.650 0.577 2.0E-13
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		disease 1.000 None 0.989 52 63 1983 2020
Entrez Id: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease 1.000 definitive 0.990 51 52 1981 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease 1.000 None 1.000 51 244 1975 2019
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		disease 1.000 definitive 0.991 50 81 1994 2019
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease 1.000 definitive 0.986 50 146 1996 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 1.000 limited 0.995 50 12 1997 2020
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		ryanodine receptor 2 0.539 0.615 1.00
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		disease 1.000 None 0.995 50 41 2001 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease 1.000 None 0.984 49 51 1983 2020
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease 1.000 None 0.966 48 84 1970 2019
Entrez Id: 641
Gene Symbol: BLM
BLM 		BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 1.000 definitive 0.994 48 123 1994 2020
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		disease 1.000 definitive 1.000 46 35 1989 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC 		ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease 1.000 definitive 1.000 44 54 1976 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease 1.000 strong 0.980 43 151 1981 2020
Entrez Id: 4683
Gene Symbol: NBN
NBN 		nibrin 0.467 0.808 2.2E-16
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease 1.000 definitive 0.981 43 129 1985 2019
Entrez Id: 6442
Gene Symbol: SGCA
SGCA 		sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		disease 1.000 None 1.000 43 48 1994 2019
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 1.000 definitive 0.969 43 23 1991 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 1.000 definitive 0.972 43 44 2003 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease 1.000 definitive 0.980 42 87 1997 2020
Entrez Id: 7454
Gene Symbol: WAS
WAS 		WASP actin nucleation promoting factor 0.529 0.808 1.00
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease 1.000 definitive 0.987 42 22 1994 2020
Entrez Id: 3423
Gene Symbol: IDS
IDS 		iduronate 2-sulfatase 0.559 0.769 0.95
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		disease 1.000 definitive 0.994 41 60 1991 2019
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		hexosaminidase subunit beta 0.644 0.654 3.5E-10
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		disease 1.000 strong 0.987 40 41 1989 2020
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		disease 1.000 None 1.000 39 52 1997 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		disease 1.000 None 1.000 38 40 1992 2019