rs267606897, CYTB;ND5

N. diseases: 4
Disease: MELAS Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MELAS Syndrome
CUI: C0162671
Disease: 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
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.800 GeneticVariation UNIPROT Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 15767514 2005
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858 2003
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505 1997
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
0.800 CausalMutation CLINVAR