EPHX1, epoxide hydrolase 1, 2052

N. diseases: 63; N. variants: 0
Source: CURATED ×
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
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 Biomarker disease CTD_human Application of genomic biomarkers to predict increased lung tumor incidence in 2-year rodent cancer bioassays. 17311802 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 Biomarker disease CTD_human A comparison of transcriptomic and metabonomic technologies for identifying biomarkers predictive of two-year rodent cancer bioassays. 17114358 2007
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 Biomarker disease CTD_human The proportion of individuals with innate slow mEPHX activity (homozygotes) was significantly higher in both the COPD group and the emphysema group than in the control group (COPD 13 [19%] vs control 13 [6%]; emphysema 21 [22%] vs 13 [6%]). 9288046 1997
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease CTD_human Susceptibility to hepatocellular carcinoma is associated with genetic variation in the enzymatic detoxification of aflatoxin B1. 7892276 1995
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.370 Biomarker disease CTD_human The proportion of individuals with innate slow mEPHX activity (homozygotes) was significantly higher in both the COPD group and the emphysema group than in the control group (COPD 13 [19%] vs control 13 [6%]; emphysema 21 [22%] vs 13 [6%]). 9288046 1997
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.350 Biomarker group CTD_human A comparison of transcriptomic and metabonomic technologies for identifying biomarkers predictive of two-year rodent cancer bioassays. 17114358 2007
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.350 Biomarker group CTD_human Application of genomic biomarkers to predict increased lung tumor incidence in 2-year rodent cancer bioassays. 17311802 2007
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.340 Biomarker disease CTD_human EPHX1 rs1051740 T>C (Tyr113His) is strongly associated with acute myeloid leukemia and KMT2A rearrangements in early age. 29605894 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.340 Biomarker disease CTD_human The bromodomain protein BRD4 regulates the KEAP1/NRF2-dependent oxidative stress response. 24763052 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.340 Biomarker disease CTD_human Among men carrying the variant allele for thioredoxin reductase 2 (TXNRD2) rs4485648, microsomal epoxide hydrolase 1 (EPHX1) rs17309872, or myeloperoxidase (MPO) rs11079344, an increased prostate cancer risk was observed with high, compared with no, petroleum oil/petroleum distillate (OR=1.9, 95% CI: 1.1-3.2, P interaction=0.01; OR=2.1, 95% CI: 1.1-4.0, P interaction=0.01), or terbufos (OR=3.0, 95% CI: 1.5-6.0, P interaction=2.0×10(-3)) use, respectively. 21716162 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.340 Biomarker disease CTD_human In conclusion, our study demonstrated that exon 3 of mEH and CYP1A1 T/C gene polymorphism are predisposing risk factors for susceptibility of sporadic PCa in northern India. 17919073 2007
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.330 Biomarker disease CTD_human Accordingly, the co-presence of Tyr113His variant of EPHX1 and Arg399Gln variant of XRCC1 in the same individuals significantly increased the risk of childhood ALL up to 2.1-fold (OR = 2.1, P = 0.03). 21983886 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.330 Biomarker disease CTD_human Individuals who carried polymorphisms for GSTT1 null and/or high activity microsomal epoxide hydrolase (mEH 113YY+139HR or 113YY+139RR or 113YH+139RR) and/or low activity NAD(P)H:quinone oxidoreductase 1 (NQO1 187PS/SS) were 1.65, 2.49 and 13 times more likely to have MM (P(trend)=0.001). 16949155 2007
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		0.320 Biomarker phenotype CTD_human The study also determined whether genetic variability in the gene encoding for microsomal epoxide hydrolase (EPHX) contributes to individual differences in susceptibility to the development of preeclampsia. 12173035 2002
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.320 Biomarker group CTD_human Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas. 11406608 2001
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		0.320 Biomarker phenotype CTD_human In addition, a significant association was found between predicted EPHX activity and pre-eclampsia. 11283205 2001
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.310 Biomarker disease CTD_human In conclusion, GSTs, EPHX1, and XPD are potential genetic factors for arsenic-induced skin cancers. 26295053 2015
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 Biomarker disease PSYGENET We found significant association between EPHX1 gene Tyr113His polymorphism and alcoholism in the Kota population (T vs. C: OR = .615, 95% CI = .399-.949, p = .027; TT vs. CC + CT: OR = .536, 95% CI = .297-.969, p = .038). 22257321 2013
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.310 Biomarker disease CTD_human Association between polymorphisms of EPHX1 and XRCC1 genes and the risk of childhood acute lymphoblastic leukemia. 21983886 2012
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.310 Biomarker disease CTD_human The NAT2 fast acetylator and EPHX1 low-activity genotypes were positively associated with MM in the Italian study, while they were negatively associated with this malignancy in the Finnish one. 16697254 2006
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.300 Biomarker disease CTD_human EPHX1 rs1051740 T>C (Tyr113His) is strongly associated with acute myeloid leukemia and KMT2A rearrangements in early age. 29605894 2018