EPHX1, epoxide hydrolase 1, 2052

N. diseases: 196; N. variants: 5
Disease: Hypercholanemia, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.600 GermlineCausalMutation disease 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
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.600 Biomarker disease GENOMICS_ENGLAND Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. 12704386 2003
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.600 GermlineCausalMutation disease ORPHANET Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. 12878321 2003
CUI: C1843139
Disease: Hypercholanemia, Familial
Hypercholanemia, Familial 		0.600 Biomarker disease CTD_human