Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
0.010 GeneticVariation disease BEFREE Our report highlights that the long-term prognosis related to the p.Trp22Arg NDUFB3 mutation can be good, even for some patients presenting in acute metabolic crisis with evidence of an isolated Complex I deficiency in muscle. 27091925 2016