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: 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: 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: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker CLINGEN The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
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 The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
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 The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
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 The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
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 The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
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 The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
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 The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 9837812

1998
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: 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: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 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: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 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: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 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: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 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 Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299

2009
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 Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299

2009
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.300 Biomarker CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066

2009