Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794 2018
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." 23430795 2013
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN Understanding mitochondrial complex I assembly in health and disease. 21924235 2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299 2009
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508 2004
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease CLINGEN The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812 1998
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
0.500 Biomarker disease GENOMICS_ENGLAND The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812 1998