Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794

2018
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker CLINGEN Here we report the unusual clinical presentation of "Progressive External Ophthalmoplegia (PEO) plus" Leigh syndrome in three children from a consanguineous family where exome sequencing identified mutations in NDUFS8. 23430795

2013
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker CLINGEN Understanding mitochondrial complex I assembly in health and disease. 21924235

2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299

2009
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker CLINGEN Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508

2004
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker CLINGEN Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome. 9837812

1998
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.630 Biomarker GENOMICS_ENGLAND

Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 GeneticVariation UNIPROT Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. 15159508

2004
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 GeneticVariation UNIPROT The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 Biomarker GENOMICS_ENGLAND The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C4748737
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794

2018
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker CLINGEN "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." 23430795

2013
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker CLINGEN Understanding mitochondrial complex I assembly in health and disease. 21924235

2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker 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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 GermlineCausalMutation ORPHANET Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603

2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 GermlineCausalMutation ORPHANET Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker CLINGEN High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010