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: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 1.000 None 0.982 27 30 1953 2020
Entrez Id: 551
Gene Symbol: AVP
AVP 		arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease 1.000 None 0.988 27 14 1978 2020
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		disease 0.700 None 1.000 27 21 2004 2019
Entrez Id: 1896
Gene Symbol: EDA
EDA 		ectodysplasin A 0.553 0.808 0.97
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease 0.800 None 0.990 26 11 1992 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4 		disease 0.910 None 1.000 26 35 1990 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 1.000 None 1.000 26 54 1993 2019
Entrez Id: 695
Gene Symbol: BTK
BTK 		Bruton tyrosine kinase 0.464 0.808 1.00
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		disease 1.000 None 0.964 26 26 1975 2020
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: 846
Gene Symbol: CASR
CASR 		calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		disease 1.000 None 0.993 26 32 1976 2020
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: 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: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease 0.800 None 0.978 24 11 1997 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: 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 23 49 1976 2020
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: 1536
Gene Symbol: CYBB
CYBB 		cytochrome b-245 beta chain 0.452 0.885 1.00
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		disease 0.800 None 0.991 22 52 1976 2020
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: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		disease 1.000 None 0.984 22 12 1986 2020
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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 1.000 None 0.961 21 19 1972 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: 11093
Gene Symbol: ADAMTS13
ADAMTS13 		ADAM metallopeptidase with thrombospondin type 1 motif 13 0.496 0.769 5.1E-15
CUI: C1268935
Disease: Congenital Thrombotic Thrombocytopenic Purpura
Congenital Thrombotic Thrombocytopenic Purpura 		disease 0.800 None 0.992 20 42 2001 2020
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