Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356

2017
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. 28753212

2017
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. 26917598

2016
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Importance of acrocyanosis in delayed walking. 25878756

2015
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. 20528888

2011
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. 20978941

2010
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 19136963

2009
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN 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
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Ethylmalonic encephalopathy-report of two cases. 16376514

2006