PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Classical phenylketonuria ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.800 strong 0.996 488 383 1975 2019