Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model. 29590638

2018

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. 27671926

2017

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN We concluded that NDUFS4-related Leigh syndrome is invariably linked to an early onset severe phenotype that results in early death. 27079373

2016

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 24020637

2014

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS. 22653057

2012

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome. 22326555

2012

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. 18396137

2008

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. 14749350

2004

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. 14765537

2003

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
1.000 Biomarker CLINGEN Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. 12616398

2003