ETHE1, ETHE1 persulfide dioxygenase, 23474

N. diseases: 46; N. variants: 28
Disease: Metabolic Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.020 Biomarker group BEFREE The mitochondrial enzyme ETHE1 is a persulfide dioxygenase essential for cellular sulfide detoxification, and its deficiency causes the severe and complex inherited metabolic disorder ethylmalonic encephalopathy (EE). 30391543 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.020 Biomarker group BEFREE These observations indicate the severe impact of ETHE1 deficiency on cellular physiology and redox state, meanwhile suggesting targets for experimental studies on novel treatment options for the devastating metabolic disorder. 27074420 2016