Disease: Hyperphenylalaninaemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.030 Biomarker disease BEFREE The majority of these patients have mild PKU or MHP (mild hyperphenylalaninemia) and harbour at least one missense mutation in the PAH gene associated with this phenotype. 12618080 2003
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.030 Biomarker disease BEFREE The women were grouped according to PAH genotype, which predicts the metabolic phenotype (severe PKU, mild PKU, and mild hyperphenylalaninemia [MHP]). 14654659 2003
CUI: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		0.030 Biomarker disease BEFREE Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity (severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia [MHP]). 10429004 1999