EPHX1, epoxide hydrolase 1, 2052

N. diseases: 196; N. variants: 5
Disease: Hereditary non-polyposis colorectal cancer syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		0.300 Biomarker disease CLINGEN Distribution of microsomal epoxide hydrolase in humans: an immunohistochemical study in normal tissues, and benign and malignant tumours. 11758809 2001
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		0.300 Biomarker disease CLINGEN Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants. 7516776 1994