rs267606896, CYTB;ND5

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793 2007
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552 2003
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
0.700 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446 2002
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 CausalMutation CLINVAR
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.700 CausalMutation CLINVAR