PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 GeneticVariation phenotype BEFREE How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression. 12655545 2003
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 Biomarker phenotype HPO