Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

Entrez Id: 4508
Gene Symbol: ATP6
ATP6
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998

Entrez Id: 4508
Gene Symbol: ATP6
ATP6
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 9501263

1998

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204

1998

Entrez Id: 4508
Gene Symbol: ATP6
ATP6
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341

1995

Entrez Id: 4508
Gene Symbol: ATP6
ATP6
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993