Source: UNIPROT

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907087
rs387907087
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. 25678554

2015

dbSNP: rs387907087
rs387907087
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 20858599

2011