EPHX1, epoxide hydrolase 1, 2052

N. diseases: 196; N. variants: 5
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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 AlteredExpression disease BEFREE Clinically, the EPHX1 expression in patients with HCC was markedly downregulated. 31566711 2020
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE The aim of the present work was to investigate the association between the Y113H polymorphism (rs1051740) in EPHX1 gene and -308G/A polymorphism (rs1800629) in TNF-a gene and COPD in Kazakhstan population. 28464990 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 Biomarker disease BEFREE We found no association between EPHX1 and COPD; however, a minor effect of EPHX1 on COPD risk was not completely excluded; further replication studies with large samples are needed to confirm our findings. 27173271 2016
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 Biomarker disease BEFREE A total of 219 patients with COPD were randomly allocated to an extremely slow/slow EPHX1 enzyme activity group (n=157) or a fast/normal EPHX1 enzyme activity group (n=62) according to their EPHX1 enzyme activity. 25999707 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE This study was undertaken to assess if mEH Tyr113His and His139Arg represent risk factors for lung cancer in Asian population. 25312477 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE ETS-exposed individuals (both active and passive smokers) who carried the His allele of mEH exon3 have a 2.9-fold increased risk of lung cancer (odds ratio [OR] 2.9, P < 0.001). 23928928 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE Our meta-analysis suggested that the EPHX1 Tyr113His polymorphism may be a risk factor for lung cancer in Asians, whereas it may be a decreased risk factor among Caucasians. 25222243 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 GeneticVariation disease BEFREE This meta-analysis suggests that EPHX1 genetic polymorphisms were not associated with the risk of HCC. 23955801 2014
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE As expected, wild homozygotes for GSTP1 Ile105Val and EPHX1 slow/very slow phenotypes were associated with susceptibility (P=0.031) and severity (P=0.036) of COPD, respectively. 21651746 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE Sensitivity analyses and subgroup analyses further identified the significant association between the EPHX1 A139G polymorphism and lung cancer risk. 23055191 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE We searched for associations with the 'sum of at-risk alleles' by combining the variant alleles of EPHX1, NQO1 and MnSOD(2) together with the wild-type allele of APE1, since they appeared to influence lung cancer risk. 22987024 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE This current meta-analysis suggests that EPHX1 T113C polymorphism is associated with lung cancer risk, and there is an obvious race-specific effect in the association. 23378225 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 GeneticVariation disease BEFREE There is substantial evidence that mEH polymorphisms interact synergistically with other genes and the environment to modulate risk of HCC. 23451147 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 Biomarker disease BEFREE Subjects with EPHX1 113 (His(113)/His(113)) homozygote mutation had a strong correlation with COPD (odds ratio: 2.7, 95% confidence interval: 1.5-5.2). 22118311 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Combination of 113His/His EPHX1/null-GSTM1 genotypes showed a significant association with the decrease of Δ FEV1 in patients (P =0.028).In conclusion, our results suggest combined EPHX1, GSTP1, GSTM1 and GSTT1 genetic polymorphisms may play a significant role in the development of COPD, emphysema and decline of the lung function. 21734345 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 AlteredExpression disease BEFREE Our results indicate that genetically reduced microsomal epoxide hydrolase activity is not a major risk factor for COPD or asthma in the Danish population; however, meta-analysis cannot completely exclude a minor effect on COPD risk. 20516053 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 Biomarker disease BEFREE In conclusion, combined genetic polymorphisms of GSTM1, GSTT1, GSTP1, and EPHX1 may have favorable effects on redox balance in COPD patients. 21309732 2011
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.400 GeneticVariation disease BEFREE Consequently, heme oxygenase-1 (HO-1), superoxide dismutase (SOD), catalase (CAT), glutathione S-transferase (GST), microsomal epoxide hydrolase (EPHX1), and cytochrome P450 (CYP) genetic polymorphisms may have an important role in COPD pathogenesis. 21721950 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE When the exon 3 and 4 polymorphisms were considered together, the combined EPHX1 His113His113/His139His139 genotype (very low predicted enzyme activity) was found to be associated with an increased risk of lung cancer (P = 0.044, OR = 3.063, CI = 0.932-10.069). 21302624 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE MDR analysis identified two distinct predictor models for the risk of lung cancer in smokers (tobacco chewing, EPHX1 Tyr113His, and SULT1A1 Arg213His) and non-smokers (CYP1A1*2A, GSTP1 Ile105Val and SULT1A1 Arg213His) with testing balance accuracy (TBA) of 0.6436 and 0.6677 respectively. 22206016 2011
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.400 GeneticVariation disease BEFREE Present study provided evidence that EPHX1 polymorphism is associated with lung cancer susceptibility in Indian population. 21649467 2011