Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 79731
Gene Symbol: NARS2
NARS2
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. 25807530

2015
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 79133
Gene Symbol: NDUFAF5
NDUFAF5
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 6834
Gene Symbol: SURF1
SURF1
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2012
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 79133
Gene Symbol: NDUFAF5
NDUFAF5
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. 19542079

2010
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 4508
Gene Symbol: ATP6
ATP6
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 4540
Gene Symbol: ND5
ND5
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 1355
Gene Symbol: COX15
COX15
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 4540
Gene Symbol: ND5
ND5
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2004
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 4540
Gene Symbol: ND5
ND5
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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: 6389
Gene Symbol: SDHA
SDHA
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 GeneticVariation UNIPROT Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566

2000
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
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