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: 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 14 patients with EE were investigated for mutations in the ETHE1 gene. 18593870 2008
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 CausalMutation disease CLINVAR 14 patients with EE were investigated for mutations in the ETHE1 gene. 18593870 2008
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		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
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 GeneticVariation disease CLINVAR 14 patients with EE were investigated for mutations in the ETHE1 gene. 18593870 2008
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 GermlineCausalMutation disease ORPHANET 14 patients with EE were investigated for mutations in the ETHE1 gene. 18593870 2008
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		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
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 GeneticVariation disease BEFREE No ETHE1 mutations were identified in non-EE EMA patients. 16183799 2006
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 CausalMutation disease CLINVAR A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. 16828325 2006
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 CausalMutation disease CLINVAR ETHE1 mutations are specific to ethylmalonic encephalopathy. 16183799 2006
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 CausalMutation disease CLINVAR 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 CLINVAR 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 Biomarker disease BEFREE 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 Biomarker disease CTD_human
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker disease CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.300 Biomarker disease CLINGEN AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. 28753212 2017
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356 2017
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. 28753212 2017
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356 2017
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. 28753212 2017
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. 28753212 2017
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356 2017
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356 2017