Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 Biomarker disease GENOMICS_ENGLAND 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
0.910 Biomarker disease BEFREE Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. 23378164 2013
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GermlineCausalMutation disease ORPHANET Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 Biomarker disease MGD NDUFS4: creation of a mouse model mimicking a Complex I disorder. 19460290 2009
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GeneticVariation disease UNIPROT NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667 2009
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GeneticVariation disease UNIPROT A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570 2008
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GeneticVariation disease UNIPROT 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
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GeneticVariation disease UNIPROT A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. 11181577 2001
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. 11181577 2001
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GeneticVariation disease UNIPROT Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. 10944442 2000
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GermlineCausalMutation disease ORPHANET Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. 9463323 1998
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 GeneticVariation disease UNIPROT Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. 9463323 1998
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 Biomarker disease CTD_human
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
0.910 CausalMutation disease CLINVAR