PAH, phenylalanine hydroxylase, 5053

N. diseases: 219; N. variants: 394
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. 25596310 2015
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. 23514811 2013
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mutation analysis in hyperphenylalaninemia patients from South Italy. 23792259 2013
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings. 22965559 2013
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA. 20188615 2010
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Phenylketonuria: an inborn error of phenylalanine metabolism. 18566668 2008
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 17935162 2008
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. 17410469 2007
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The PAH gene, phenylketonuria, and a paradigm shift. 17443661 2007
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. 15665165 2005
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. 15171997 2004
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy. 14760268 2004
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. 11581453 2001
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. 11328945 2001
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Mutation analysis anticipates dietary requirements in phenylketonuria. 11043162 2000
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. 9399896 1997
dbSNP: rs62514895
rs62514895
Entrez Id: 5053
Gene Symbol: PAH
PAH
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. 8406445 1993