Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
0.030 GeneticVariation disease BEFREE Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. 25615419 2015
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
0.030 GeneticVariation disease BEFREE This is one of the mildest known clinical presentations of complex I deficiency secondary to mutations in NDUFS1, expanding the clinical spectrum and natural history of this disorder. 24952175 2014
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
0.030 GeneticVariation disease BEFREE Altogether, these results indicate that the NDUFS1 mutation is responsible for the disease and complex I deficiency. 21203893 2011