Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 Biomarker disease CLINGEN We concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. 27079373 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 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: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 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: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 Biomarker disease CLINGEN Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 24020637 2014
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 CausalMutation disease CLINVAR Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 24020637 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: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 Biomarker disease GENOMICS_ENGLAND Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 24020637 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: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 Biomarker disease BEFREE NDUFS4 was previously correlated to Leigh syndrome since mutations in this gene block the assembly of complex I. 24295889 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
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease BEFREE The loss of Surf1 protein leads to a severe COX deficiency manifested as a fatal neurodegenerative disorder, the Leigh syndrome (LS(COX)). 22465034 2012
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 Biomarker disease 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: 4724
Gene Symbol: NDUFS4
NDUFS4 		1.000 Biomarker disease CLINGEN Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS. 22653057 2012
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		1.000 GeneticVariation disease CLINVAR For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful. 22410471 2012