Gene: ND5 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606893
rs267606893
ND5
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: rs199476109
rs199476109
CYTB ; ND5 ; ND6
0.800 GeneticVariation UNIPROT Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003
dbSNP: rs267606893
rs267606893
ND5
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
0.800 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606896
rs267606896
CYTB ; ND5
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
dbSNP: rs267606896
rs267606896
CYTB ; ND5
0.700 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003
dbSNP: rs267606896
rs267606896
CYTB ; ND5
0.700 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002