Source: UNIPROT

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: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		disease 1.000 None 1.000 26 72 1998 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease 1.000 None 1.000 25 38 1982 2019
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3 		myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		disease 0.900 definitive 1.000 25 64 1990 2019
Entrez Id: 189
Gene Symbol: AGXT
AGXT 		alanine--glyoxylate and serine--pyruvate aminotransferase 0.593 0.731 1.2E-07
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		disease 0.800 None 1.000 24 37 1973 2019
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		disease 0.900 None 1.000 24 30 1983 2020
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C1283400
Disease: Butyrylcholinesterase deficiency
Butyrylcholinesterase deficiency 		disease 0.720 None 1.000 24 29 1957 2016
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C0268243
Disease: Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type B 		disease 0.800 strong 1.000 24 41 1991 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		disease 0.700 strong 1.000 24 13 1990 2017
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		keratin 9 0.678 0.346 1.1E-06
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		disease 0.800 strong 1.000 23 14 1992 2019
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		disease 0.900 definitive 1.000 23 78 1972 2017
Entrez Id: 65018
Gene Symbol: PINK1
PINK1 		PTEN induced kinase 1 0.516 0.769 1.9E-10
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		disease 0.930 None 1.000 23 16 2004 2017
Entrez Id: 7054
Gene Symbol: TH
TH 		tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		disease 0.720 definitive 1.000 23 22 1964 2018
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		disease 0.900 strong 1.000 22 131 1991 2017
Entrez Id: 2700
Gene Symbol: GJA3
GJA3 		gap junction protein alpha 3 0.647 0.346 1.3E-03
CUI: C1866078
Disease: Cataract, Zonular Pulverulent 3
Cataract, Zonular Pulverulent 3 		disease 0.900 None 1.000 22 8 1999 2018
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		disease 0.800 None 1.000 22 36 1997 2016
Entrez Id: 2159
Gene Symbol: F10
F10 		coagulation factor X 0.493 0.769 2.3E-06
CUI: C0015519
Disease: Factor X Deficiency
Factor X Deficiency 		disease 0.800 definitive 1.000 21 22 1981 2019
Entrez Id: 2160
Gene Symbol: F11
F11 		coagulation factor XI 0.590 0.692 3.6E-26
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		disease 1.000 strong 1.000 21 56 1981 2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		disease 1.000 definitive 1.000 21 11 1986 2019
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		ATP binding cassette subfamily C member 8 0.474 0.846 8.0E-24
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		disease 0.700 None 1.000 21 44 1995 2018
Entrez Id: 846
Gene Symbol: CASR
CASR 		calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C3715128
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 		disease 0.920 strong 1.000 21 21 1994 2019
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C0751360
Disease: Becker Generalized Myotonia
Becker Generalized Myotonia 		disease 0.800 None 1.000 20 29 1992 2018
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1 		cytochrome P450 family 1 subfamily B member 1 0.457 0.769 2.2E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		disease 0.700 None 1.000 20 29 1997 2016
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		forkhead box C1 0.483 0.846 0.95
CUI: C2678503
Disease: AXENFELD-RIEGER SYNDROME, TYPE 3
AXENFELD-RIEGER SYNDROME, TYPE 3 		disease 0.700 None 1.000 20 9 1998 2017
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		disease 0.910 None 1.000 20 30 1999 2019
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4 		solute carrier family 37 member 4 0.617 0.654 1.7E-05
CUI: C0268146
Disease: Glucose-6-phosphate transport defect
Glucose-6-phosphate transport defect 		disease 0.800 None 1.000 20 30 1997 2020