Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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