Gene: SURF1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 CausalMutation disease CLINVAR Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813 1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease CLINGEN Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813 1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease BEFREE Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813 1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease CLINGEN SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204 1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease UNIPROT SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204 1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease BEFREE SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204 1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease BEFREE Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome. 10622737 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease BEFREE Very recently, however, a Leigh syndrome complementation group has been identified which showed mutations in the SURFEIT-1 (SURF-1) gene. 10558868 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease BEFREE The clinical phenotype caused by mutations in human SCO2 differs from that caused by mutations in SURF1, the only other known COX assembly gene associated with a human disease, Leigh syndrome. 10545952 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease BEFREE Loss of function of SURF-1 protein is specifically associated with LS(COX), although a proportion of LS(COX) cases must be the result of abnormalities in genes other than SURF-1. 10443880 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease CLINGEN Loss of function of SURF-1 protein is specifically associated with LS(COX), although a proportion of LS(COX) cases must be the result of abnormalities in genes other than SURF-1. 10443880 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease CLINGEN Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c oxidase (COX) deficiency. 10556302 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 CausalMutation disease CLINVAR Leigh syndrome transmitted by uniparental disomy of chromosome 9. 10636738 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease BEFREE Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. 10556303 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 CausalMutation disease CLINVAR SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. 10558868 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease BEFREE 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 		1.000 GeneticVariation disease BEFREE Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c oxidase (COX) deficiency. 10556302 1999
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 CausalMutation disease CLINVAR Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561 2000
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease BEFREE Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561 2000
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. 10899453 2000
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease BEFREE The three genes indicted, SURF1 for Leigh syndrome, COX 10 for leukodystrophy and tubulopathy, and SCO2 for the cardiomyopathic form, all have a role in the assembly of the mature cytochrome oxidase complex. 11044474 2000
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease BEFREE All of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutations had a combination of encephalopathy and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome. 10805329 2000