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 A biochemical diagnosis of complex I deficiency on cultured amniocytes from a later pregnancy was confirmed through the identification of disease causing NDUFS3 mutations in these cells. 14729820 2004