Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007

dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003

dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002