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 Here, we show that AAV2/8-mediated, ETHE1-gene transfer to the liver of a genetically, metabolically and clinically faithful EE mouse model resulted in full restoration of SDO activity, correction of plasma thiosulfate, a biomarker reflecting the accumulation of H(2)S, and spectacular clinical improvement. 22903887 2012
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 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 Biomarker disease CTD_human
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 AlteredExpression disease BEFREE Cellular redox regulation has been described to be influenced in ETHE1 deficient cells, and to clarify this further we applied image cytometry and detected decreased levels of reduced glutathione (GSH) in cultivated EE patient fibroblast cells. 30391543 2019
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. 25198162 2014
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR 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 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 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 Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 27391121 2016
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 CausalMutation disease CLINVAR A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. 16828325 2006
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR 14 patients with EE were investigated for mutations in the ETHE1 gene. 18593870 2008
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 CausalMutation disease CLINVAR ETHE1 mutations are specific to ethylmalonic encephalopathy. 16183799 2006
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		1.000 GermlineCausalMutation disease ORPHANET 14 patients with EE were investigated for mutations in the ETHE1 gene. 18593870 2008