Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.910 GeneticVariation UNIPROT NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667

2009

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.910 GeneticVariation UNIPROT A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570

2008

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.910 GeneticVariation 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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.910 GeneticVariation 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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.910 GeneticVariation 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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.910 GeneticVariation 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