Source: CLINGEN

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 Biomarker CLINGEN Fifteen SURF1 mutations were identified in 12 Leigh syndrome patients, of which three, c.465_466delAA, c.532A > T, and c.826_827ins AGCATCTGCAGTACATCG, were newly described. 29933018

2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 Biomarker CLINGEN Mutations in SURF1, a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS. 29601977

2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 Biomarker CLINGEN This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients. 27756633

2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 Biomarker CLINGEN We conclude that Surf1 is essential for COX activity and mitochondrial function in D. melanogaster, thus providing a new tool that may help clarify the pathogenic mechanisms of LS. 25164807

2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 Biomarker CLINGEN 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 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 Biomarker CLINGEN Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. 9837813

1998
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		1.000 Biomarker CLINGEN SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204

1998