Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570

2012

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 GeneticVariation UNIPROT NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667

2009

Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
Necrotizing encephalopathy, infantile subacute, of Leigh
0.300 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