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: C0746556
Disease: metabolic disturbance
metabolic disturbance
0.010 Biomarker disease BEFREE Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. 20978941 2010