Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		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: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514

2005
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997