Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN High-throughput discovery of novel developmental phenotypes. 27626380

2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. 25615419

2015
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. 24952175

2014
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 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: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. 21458341

2011
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1. 21203893

2011
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. 20382551

2010
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain. 15186778

2004
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233

2001
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551

1998
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN IpaB of Shigella flexneri causes entry into epithelial cells and escape from the phagocytic vacuole. 1582426

1992
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker CLINGEN Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase. 1935949

1991