Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation 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
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 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
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. 14564068

2004

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT SURF1-associated Leigh syndrome: a case series and novel mutations. 22488715

2012

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992

2012

Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations. 22410471

2013