ETHE1, ETHE1 persulfide dioxygenase, 23474

N. diseases: 46; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		0.100 Biomarker phenotype HPO
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		0.100 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Overall, our data nominate elevated <i>ETHE1 expression levels</i> as a novel biomarker and potential therapeutic target for the prevention of CRC tumorigenesis. 31258845 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE The comparison of autoimmune profiles between the early stage LC and the combined group of healthy and LBL allowed us to identify and validate a biomarker panel of p53, HRas, and ETHE1 for diagnosis of early stage LC with 50% sensitivity at >90% specificity. 29021294 2017
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		0.100 CausalMutation phenotype CLINVAR
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.100 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Overall, our data nominate elevated <i>ETHE1 expression levels</i> as a novel biomarker and potential therapeutic target for the prevention of CRC tumorigenesis. 31258845 2019
CUI: C4021724
Disease: Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers 		0.100 Biomarker phenotype HPO
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.010 Biomarker disease BEFREE Tissue-specific ablation of Ethe1 causes COX deficiency in targeted organs, suggesting that failure in neutralizing endogenous, tissue-specific production of H(2)S is sufficient to cause the biochemical defect but neither to determine a clinical impact nor to induce the biomarker profile typical of EE. 20812865 2011
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. 26194623 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE To investigate to what extent ETHE1 is responsible for EE, we analysed this gene in 29 patients with typical EE and in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria (non-EE EMA). 16183799 2006
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		0.100 Biomarker phenotype HPO
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 Biomarker disease BEFREE Deficiency of the sulfide metabolizing protein ETHE1 is the cause of ethylmalonic encephalopathy (EE), an inherited and severe metabolic disorder. 21410200 2011
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 Biomarker disease BEFREE Tissue-specific ablation of Ethe1 causes COX deficiency in targeted organs, suggesting that failure in neutralizing endogenous, tissue-specific production of H(2)S is sufficient to cause the biochemical defect but neither to determine a clinical impact nor to induce the biomarker profile typical of EE. 20812865 2011
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 CausalMutation disease CLINVAR Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. 25198162 2014
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 Biomarker disease BEFREE By studying a suitable mouse model, we found that loss of ETHE1 leads to accumulation of sulphide, which is a poison for COX and other enzymatic activities thus accounting for the main features of EE. 22020834 2012
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 GeneticVariation disease UNIPROT However, given its role in EE, the name of the gene has been changed to "ETHE1." 14732903 2004
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 GeneticVariation disease UNIPROT 14 patients with EE were investigated for mutations in the ETHE1 gene. 18593870 2008
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016