Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476109
rs199476109
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0023264
Disease:
Leigh Disease
C 0.800 CausalMutation CLINVAR Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. 16337195 2005
dbSNP: rs199476109
rs199476109
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0023264
Disease:
Leigh Disease
C 0.800 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
dbSNP: rs199476109
rs199476109
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0023264
Disease:
Leigh Disease
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: rs199476109
rs199476109
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0023264
Disease:
Leigh Disease
C 0.800 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687 2003
dbSNP: rs199476109
rs199476109
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0023264
Disease:
Leigh Disease
C 0.800 CausalMutation CLINVAR Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656 2003