Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606830
rs267606830
FOXRED1
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.800 GeneticVariation UNIPROT Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. 25678554

2015
dbSNP: rs267606830
rs267606830
FOXRED1
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs267606830
rs267606830
FOXRED1
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.800 GeneticVariation UNIPROT FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 20858599

2010