Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80270
Gene Symbol: HSD3B7
HSD3B7
0.010 GeneticVariation disease BEFREE Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. 29238877 2018