Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.130 AlteredExpression disease BEFREE In humans, lack of phenylalanine hydroxylase (Pah) activity results in phenylketonuria (PKU), which is associated with the development of severe mental retardation after birth. 25296915 2015
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.130 AlteredExpression disease BEFREE Loss or reduction of human PAH activity results in hyperphenylalaninemia (HPA) which, if untreated, results in severe mental retardation and impaired cognitive development. 21871828 2011
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.130 GeneticVariation disease BEFREE To test the applicability of this DNA delivery system for the correction of phenylketonuria, a metabolic disorder that causes severe mental retardation in children, we have delivered the human phenylalanine hydroxylase (PAH) gene to hepatocytes derived from a PAH-deficient mouse strain and demonstrated complete reconstitution of enzymatic activity. 8384712 1993
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.130 Biomarker disease HPO