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: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease 1.000 definitive 1.000 8 4 1988 2019