Source: UNIPROT

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203929
rs118203929
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 18940309

2008