Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. 14564068

2004

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012

Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105

2012

Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889

2011

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 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015

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

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667

2009

Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1999

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570

2012

Entrez Id: 4508
Gene Symbol: ATP6
ATP6
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

2007

Entrez Id: 4537
Gene Symbol: ND3
ND3
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068

2007

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. 12616398

2003

Entrez Id: 1355
Gene Symbol: COX15
COX15
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026

2004

Entrez Id: 5428
Gene Symbol: POLG
POLG
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations. 22410471

2013

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561

2000

Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. 21607760

2012

Entrez Id: 4540
Gene Symbol: ND5
ND5
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007

Entrez Id: 1355
Gene Symbol: COX15
COX15
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. 15863660

2006

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2012

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: 4540
Gene Symbol: ND5
ND5
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002

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