Gene: NDUFS4 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model. 29590638 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. 27671926 2017
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Ndufs4 related Leigh syndrome: A case report and review of the literature. 27079373 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease 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 		0.300 Biomarker disease CLINGEN Fatal breathing dysfunction in a mouse model of Leigh syndrome. 22653057 2012
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease 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 		0.300 Biomarker disease CLINGEN Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. 18396137 2008
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease 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 		0.300 Biomarker disease CLINGEN Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. 14765537 2003
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease 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