Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994093
rs113994093
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009

dbSNP: rs113994098
rs113994098
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT

dbSNP: rs121912638
rs121912638
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1999

dbSNP: rs121913659
rs121913659
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121918658
rs121918658
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 10647889

2000

dbSNP: rs137852767
rs137852767
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566

2000

dbSNP: rs199476133
rs199476133
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT

dbSNP: rs199476135
rs199476135
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT

dbSNP: rs199476138
rs199476138
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

2007

dbSNP: rs199592341
rs199592341
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105

2012

dbSNP: rs267606689
rs267606689
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. 19542079

2010

dbSNP: rs267606891
rs267606891
ND3
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT

dbSNP: rs267606893
rs267606893
ND5
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT

dbSNP: rs267606896
rs267606896
ND5
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2004

dbSNP: rs28933402
rs28933402
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561

2000

dbSNP: rs28939679
rs28939679
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1999

dbSNP: rs28939711
rs28939711
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT

dbSNP: rs387906873
rs387906873
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889

2011

dbSNP: rs397514662
rs397514662
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 15863660

2006

dbSNP: rs398122806
rs398122806
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2012

dbSNP: rs747359752
rs747359752
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667

2009

dbSNP: rs757043077
rs757043077
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. 21607760

2012

dbSNP: rs759452074
rs759452074
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT

dbSNP: rs782024654
rs782024654
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012

dbSNP: rs782033035
rs782033035
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT