Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial
0.600 GermlineCausalMutation ORPHANET Transcription of the Human Microsomal Epoxide Hydrolase Gene (EPHX1) Is Regulated by PARP-1 and Histone H1.2. Association with Sodium-Dependent Bile Acid Transport. 25992604

2015

Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial
0.600 Biomarker GENOMICS_ENGLAND Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386

2003

Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial
0.600 GermlineCausalMutation ORPHANET Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. 12878321

2003

Entrez Id: 2052
Gene Symbol: EPHX1
EPHX1
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial
0.600 Biomarker CTD_human