Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 Biomarker disease GENOMICS_ENGLAND The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. 29481804 2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 Biomarker disease 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
1.000 GeneticVariation disease BEFREE The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses. 29481804 2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 Biomarker disease 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
1.000 GeneticVariation disease BEFREE SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. 29933018 2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 GeneticVariation disease BEFREE 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
1.000 GeneticVariation disease CLINVAR 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
1.000 GeneticVariation disease BEFREE Presence of demyelinating neuropathy in Leigh's syndrome may suggest underlying SURF1 mutations. 26762927 2016
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 Biomarker disease 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
1.000 CausalMutation disease CLINVAR 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
1.000 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
1.000 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
1.000 CausalMutation disease CLINVAR Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. 26341968 2015
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 GeneticVariation disease BEFREE Patients with LS underwent genotyping for the whole genome of mitochondrial DNA and SURF1 mutations. 25351680 2015
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 GeneticVariation disease CLINVAR Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay. 25629267 2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 AlteredExpression disease BEFREE 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
1.000 Biomarker disease 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
1.000 GeneticVariation disease BEFREE The study included four patients with Leigh syndrome and SURF1 mutations identified from a cohort of 25 children with Leigh syndrome seen over a period of six years (2006-2012). 24262866 2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 CausalMutation disease CLINVAR A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 24462369 2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 CausalMutation disease CLINVAR A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome. 27896082 2014
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 CausalMutation disease CLINVAR SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. 24027061 2013
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 GeneticVariation disease CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769 2013
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 GeneticVariation disease BEFREE We discuss the brain MR imaging findings in these three cases along with a literature review on the MR features of previously reported cases of patients with POLG gene mutations and Leigh disease due to SURF1 gene mutations. 22729384 2013
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
1.000 CausalMutation disease CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769 2013