Source: MGD

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: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.700 None 1.000 6 0 1991 2020
Entrez Id: 7508
Gene Symbol: XPC
XPC 		XPC complex subunit, DNA damage recognition and repair factor 0.504 0.808 3.7E-11
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.700 None 0.974 1 0 1994 2019
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.600 None 1.000 3 0 1999 2019
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.400 None 1.000 2 0 1994 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.400 None 0.986 1 0 1992 2019
Entrez Id: 1643
Gene Symbol: DDB2
DDB2 		damage specific DNA binding protein 2 0.576 0.654 7.4E-06
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.300 None 1.000 2 0 1999 2018
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.300 None 0.974 1 0 1990 2020
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.300 None 1.000 1 0 1998 2019
Entrez Id: 7014
Gene Symbol: TERF2
TERF2 		telomeric repeat binding factor 2 0.541 0.731 0.99
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.200 None 0 0