DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
Disease: Adenine phosphoribosyltransferase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268120
Disease: Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency 		0.010 GeneticVariation disease BEFREE The analysis of mutations that result in APRT deficiency in a mismatch-repair-deficient strain of DLD-1 heterozygous for this locus enabled us to measure the rate of loss of the wild-type gene through deletion, recombination, or gene conversion as well as the rate of point mutation. 8887680 1996