| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. | 17803937 | 2007 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. | 16844695 | 2006 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | BEFREE | Interestingly, two FGFR2 mutations creating cysteine residues (W290C and Y340C) caused severe forms of PS while conversion of the same residues into another amino-acid (W290G/R, Y340H) resulted in Crouzon phenotype exclusively. | 16418739 | 2006 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. | 11781872 | 2002 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). | 11173845 | 2000 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. | 10945669 | 2000 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. | 10394936 | 1999 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. | 9719378 | 1998 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. | 9693549 | 1998 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. | 9150725 | 1997 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. | 9002682 | 1997 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. | 8644708 | 1996 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | FGFR2 mutations in Pfeiffer syndrome. | 7719333 | 1995 | |||||
Pfeiffer Syndrome
|
0.710 | GeneticVariation | UNIPROT | Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. | 7719345 | 1995 |