Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. | 25596310 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Mutation analysis in hyperphenylalaninemia patients from South Italy. | 23792259 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings. | 22965559 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain. | 23514811 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA. | 20188615 | 2010 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Phenylketonuria: an inborn error of phenylalanine metabolism. | 18566668 | 2008 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. | 17935162 | 2008 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | The PAH gene, phenylketonuria, and a paradigm shift. | 17443661 | 2007 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. | 17410469 | 2007 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Maternal phenylketonuria: report from the United Kingdom Registry 1978-97. | 15665165 | 2005 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. | 15171997 | 2004 | |||||
Overgrowth
|
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 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. | 11328945 | 2001 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000. | 11581453 | 2001 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Mutation analysis anticipates dietary requirements in phenylketonuria. | 11043162 | 2000 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. | 9399896 | 1997 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. | 8406445 | 1993 |