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