NDUFS4, NADH:ubiquinone oxidoreductase subunit S4, 4724
N. diseases: 137; N. variants: 12
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.910 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
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0.910 | Biomarker | disease | GENOMICS_ENGLAND | A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. | 25655951 | 2015 | ||||
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0.910 | Biomarker | disease | GENOMICS_ENGLAND | Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. | 24020637 | 2014 | ||||
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0.910 | Biomarker | disease | GENOMICS_ENGLAND | Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. | 24020637 | 2014 | ||||
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0.910 | Biomarker | disease | BEFREE | Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. | 23378164 | 2013 | ||||
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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 | ||||
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0.910 | Biomarker | disease | MGD | NDUFS4: creation of a mouse model mimicking a Complex I disorder. | 19460290 | 2009 | ||||
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0.910 | GeneticVariation | disease | UNIPROT | NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. | 19364667 | 2009 | ||||
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0.910 | GeneticVariation | disease | UNIPROT | A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. | 19107570 | 2008 | ||||
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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 | ||||
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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 | ||||
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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 | ||||
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0.910 | GeneticVariation | disease | UNIPROT | Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. | 10944442 | 2000 | ||||
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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 | ||||
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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 | ||||
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0.910 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
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0.910 | Biomarker | disease | CTD_human | |||||||
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0.910 | CausalMutation | disease | CLINVAR |