Source: CTD_human

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: 2073
Gene Symbol: ERCC5
ERCC5 		ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		disease 1.000 definitive 1.000 0 0 1975 2016
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 0 0 1981 2019
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		disease 1.000 None 1.000 0 0 2001 2019
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease 1.000 strong 0.979 0 0 1973 2019
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY 		disease 1.000 limited 0.947 0 0 1999 2018
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		fukutin 0.511 0.692 8.7E-07
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease 1.000 strong 1.000 0 0 1992 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 0 0 1994 2020
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		disease 1.000 None 1.000 0 0 1994 2019
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32 		tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C0270968
Disease: Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2H 		disease 1.000 None 0.941 0 0 2002 2019
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A 		vacuolar protein sorting 13 homolog A 0.650 0.577 9.3E-22
CUI: C0393576
Disease: Chorea Acanthocytosis Syndrome
Chorea Acanthocytosis Syndrome 		disease 1.000 None 1.000 0 0 2001 2019
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 1.000 limited 0.929 0 0 2000 2018
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		ETHE1 persulfide dioxygenase 0.686 0.346 4.6E-06
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		disease 1.000 None 1.000 0 0 2004 2019
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 0 0 1997 2020
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 0 0 1997 2020
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		disease 1.000 None 1.000 0 0 1987 2019
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1 		alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		disease 1.000 None 1.000 0 0 1988 2019
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 0 0 1970 2020
Entrez Id: 26119
Gene Symbol: LDLRAP1
LDLRAP1 		low density lipoprotein receptor adaptor protein 1 0.641 0.538 6.5E-06
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		disease 1.000 strong 1.000 0 0 2001 2020
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B 		VPS33B late endosome and lysosome associated 0.644 0.654 2.4E-16
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		disease 1.000 None 1.000 0 0 2004 2019
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 1.000 None 1.000 0 0 1996 2017
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 1.000 None 1.000 0 0 2001 2019
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 0 0 1976 2020
Entrez Id: 2690
Gene Symbol: GHR
GHR 		growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		disease 1.000 None 0.980 0 0 1987 2020
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		disease 1.000 None 1.000 0 0 1975 2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		disease 1.000 None 1.000 0 0 1993 2019