PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Hyperphenylalaninaemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		A 0.710 CausalMutation CLINVAR The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. 24368688 2014
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		A 0.710 CausalMutation CLINVAR Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. 22698810 2012
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		A 0.710 CausalMutation CLINVAR A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population. 18294361 2008
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		A 0.710 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		A 0.710 CausalMutation CLINVAR A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. 9634518 1998
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		A 0.710 CausalMutation CLINVAR Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3. 9298832 1997
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		A 0.710 CausalMutation CLINVAR Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. 8533759 1995
dbSNP: rs62642937
rs62642937
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0751435
Disease:
Hyperphenylalaninaemia 		0.710 GeneticVariation BEFREE Two mutations (T380M and V245A) can be characterized as MHP mutations; they are quasi dominant markers for MHP since they cause mild hyperphenylalaninaemia even when occurring in conjunction with the most severe PKU mutations. 7766952 1994