Disease: Phenylketonurias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		0.010 GeneticVariation group BEFREE As 19 cases with the mutations in phenylalanine hydroxylase (<i>PAH</i>), solute carrier family 22 member 5 (<i>SLC22A5</i>), and methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria (<i>MMACHC</i>) genes, respectively, it suggested that mutations in the <i>PAH</i>, <i>SLC22A5</i>, and <i>MMACHC</i> genes are the predominant causes of IEMs, leading to the high incidence of phenylketonuria, primary carnitine deficiency, and methylmalonic acidemia, respectively. 29731766 2018