PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Classical phenylketonuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62507341
rs62507341
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.700 CausalMutation CLINVAR A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients. 30389586 2019
dbSNP: rs62507341
rs62507341
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.700 CausalMutation CLINVAR Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations. 19062537 2008
dbSNP: rs62507341
rs62507341
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.700 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62507341
rs62507341
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.700 CausalMutation CLINVAR The molecular basis of phenylketonuria in Lithuania. 12655550 2003
dbSNP: rs62507341
rs62507341
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751434
Disease:
Classical phenylketonuria 		C 0.700 CausalMutation CLINVAR Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. 9521426 1998