Gene: ETHE1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 Biomarker disease BEFREE However, given its role in EE, the name of the gene has been changed to "ETHE1." 14732903 2004
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease BEFREE Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 18593870 2008
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. 26917598 2016
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease BEFREE Mutation analysis of the ETHE1 gene demonstrated homozygosity for the Arg163Gly mutation, confirming the diagnosis of EE at a molecular level. 17712735 2007
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease BEFREE Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level. 22805253 2013
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease BEFREE Mutations to the hETHE1 gene compromise sulfide metabolism leading to the genetic disease ethylmalonic encephalopathy. hETHE1 is a mono-iron binding member of the metallo-β-lactamase (MBL) fold superfamily. 25596185 2015
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease BEFREE No ETHE1 mutations were identified in non-EE EMA patients. 16183799 2006
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. 29526615 2018
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR Severe early onset ethylmalonic encephalopathy with West syndrome. 26194623 2015
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		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
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease BEFREE To address this issue and to elicit how ETHE1 dysfunction results in EE, we have investigated two such pathological mutations, ETHE1-p.Arg163Gln and p.Arg163Trp. 25198162 2014
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 Biomarker disease MGD We found that thiosulfate was excreted in massive amounts in urine of both Ethe1(-/-) mice and humans with ethylmalonic encephalopathy. 19136963 2009
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease CLINVAR We found that thiosulfate was excreted in massive amounts in urine of both Ethe1(-/-) mice and humans with ethylmalonic encephalopathy. 19136963 2009
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 Biomarker disease BEFREE We found that thiosulfate was excreted in massive amounts in urine of both Ethe1(-/-) mice and humans with ethylmalonic encephalopathy. 19136963 2009
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GeneticVariation disease BEFREE We report on a 15-month-old male presenting with typical EE associated with a homozygous ETHE1 mutation. 20978941 2010
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016