Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 GeneticVariation UNIPROT Although mutations in SURF1 have been mainly associated with typical LS, five of the patients in this report had an atypical course of LS. 22488715

2012
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 GeneticVariation UNIPROT For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful. 22410471

2012
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 GeneticVariation UNIPROT Our study confirms the recent observations that SURF1 is consistently involved in disorders of the mitochondrial respiratory chain in patients with typical Leigh syndrome. 14564068

2001
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 GeneticVariation UNIPROT Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561

2000
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 GeneticVariation UNIPROT We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis. 10647889

1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 GeneticVariation UNIPROT SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204

1998
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.740 GeneticVariation UNIPROT Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. 15863660

2005
Entrez Id: 1355
Gene Symbol: COX15
COX15
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.740 GeneticVariation UNIPROT Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. 15235026

2004
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation UNIPROT Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS) and/or leukodystrophy. 24781757

2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 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: 6389
Gene Symbol: SDHA
SDHA
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.730 GeneticVariation UNIPROT Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341

1995
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.540 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy. 17352390

2007
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 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: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene. 9270604

1997
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.500 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993
Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.490 GeneticVariation UNIPROT These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for LS and dystonia. 17152068

2007
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.470 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: 4540
Gene Symbol: ND5
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.470 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003
Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.470 GeneticVariation UNIPROT Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003
Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.470 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 GeneticVariation UNIPROT Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 18828154

2009