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 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 Biomarker GENOMICS_ENGLAND

Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.310 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 "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." 23430795

2013
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 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: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 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: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 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: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 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 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: 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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.310 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 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 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 Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794

2018
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 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: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 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: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 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: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 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 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 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: 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
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010