Source: ORPHANET

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: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		disease 0.800 strong 0.947 1 0 2001 2020
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		disease 0.770 strong 1.000 2 0 1998 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		disease 0.600 None 1.000 1 0 2000 2020