Source: GENOMICS_ENGLAND

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: 5205
Gene Symbol: ATP8B1
ATP8B1 		ATPase phospholipid transporting 8B1 0.610 0.500 2.8E-10
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease 0.800 None 0.978 2 0 1996 2018
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease 0.700 strong 1.000 0 0 1996 2020