Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness. | 26666653 | 2015 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. | 24130151 | 2014 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain. | 23500595 | 2013 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran. | 23716935 | 2012 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran. | 22763404 | 2012 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Mutation spectrum of phenylketonuria in Iranian population. | 20920871 | 2011 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. | 17935162 | 2008 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. | 15557004 | 2004 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. | 14741196 | 2004 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria. | 14654665 | 2003 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. | 11486900 | 2001 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Comparison of genotype and intellectual phenotype in untreated PKU patients. | 8320703 | 1993 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Molecular basis of phenotypic heterogeneity in phenylketonuria. | 2014036 | 1991 | |||||
Classical phenylketonuria
|
0.700 | CausalMutation | CLINVAR | Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene. | 2309142 | 1990 | |||||
Phenylketonurias
|
0.010 | GeneticVariation | BEFREE | Each of four other mutations (R158Q, R243X, G272X, IVS12nt1) accounted for more than 3% of PKU alleles. | 7557973 | 1995 |