Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency. 16601896 2006
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE In this study, SURF1 mutations associated with cytochrome c oxidase deficiency were identified in 8 (12.3%) out of 65 patients with Leigh syndrome. 16542579 2006
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency. 16765830 2006
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE Mutations in Surf1, a human gene involved in the assembly of cytochrome c oxidase (COX), cause Leigh syndrome, the most common infantile mitochondrial encephalopathy, characterized by a specific COX deficiency. 16172499 2006
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE SURF1 mutations associated with cytochrome-c oxidase deficiency were identified in 25 patients (20.2%). 17323145 2007
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 Biomarker disease BEFREE The loss of human Surf1 function is associated with Leigh syndrome, a fatal neurodegenerative disorder caused by severe COX deficiency. 19625251 2009
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE One of the most common enzymatic defects in Leigh patients is cytochrome c oxidase deficiency associated with recessive mutations in the SURF1 gene. 18583168 2009
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE Mutations in the nuclear SURF-1 gene lead directly to cytochrome-c oxidase deficiency, the most common respiratory chain defect in Leigh syndrome, a neurodegenerative mitochondrial disease involving the deep gray matter and brain stem. 19805825 2009
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 Biomarker disease BEFREE The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. 21266382 2011
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 Biomarker disease BEFREE Mutations in genes for the assembly factors SURF1 and SCO2 are prevalent in children with COX deficiency in the Slavonic population. 22592081 2012
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations. 22465034 2012
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE It usually presents in infancy and is genetically heterogeneous, but most individuals with mitochondrial complex IV (or cytochrome c oxidase) deficiency have mutations in the biogenesis factor SURF1. 24462369 2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. 24262866 2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE SURF1 gene mutations cause a severe COX deficiency manifesting as the Leigh syndrome in humans, whereas in mice SURF1(-/-) knockout leads only to a mild COX defect. 26804654 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
0.500 GeneticVariation disease BEFREE The loss of the wild-type COX8A protein severely impairs the stability of the entire cytochrome c oxidase enzyme complex and manifests in isolated complex IV deficiency in skeletal muscle and fibroblasts, similar to the frequent c.845_846delCT mutation in the assembly factor SURF1 gene. 26685157 2016