SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Gastrointestinal symptom ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426576
Disease: Gastrointestinal symptom
Gastrointestinal symptom 		0.010 Biomarker phenotype BEFREE Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic accumulation of thymidine (d-Thd) and deoxyuridine (d-Urd) and characterized by early-onset neurological and gastrointestinal symptoms. 29687034 2018