Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933402
rs28933402
SURF1
0.700 GeneticVariation UNIPROT SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012
dbSNP: rs28933402
rs28933402
SURF1
0.700 GeneticVariation UNIPROT Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations. 22410471

2012
dbSNP: rs28933402
rs28933402
SURF1
0.700 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2011
dbSNP: rs28933402
rs28933402
SURF1
0.700 GeneticVariation UNIPROT SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. 14564068

2001
dbSNP: rs28933402
rs28933402
SURF1
0.700 GeneticVariation UNIPROT Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. 10746561

2000
dbSNP: rs28933402
rs28933402
SURF1
0.700 GeneticVariation UNIPROT Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. 10647889

1999
dbSNP: rs28933402
rs28933402
SURF1
0.700 GeneticVariation UNIPROT SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. 9843204

1998