Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.760 | GeneticVariation | BEFREE | We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). | 24656465 | 2014 |
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0.760 | GeneticVariation | BEFREE | Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. | 25251565 | 2014 |
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0.760 | GeneticVariation | BEFREE | However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. | 14613973 | 2004 |
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0.760 | GeneticVariation | BEFREE | In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues. | 11596961 | 2001 |
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0.760 | GeneticVariation | BEFREE | Two additional patients; one with Apert syndrome and P253R mutation, the other with Pfeiffer syndrome and S267P mutation, also appeared to be homozygous. | 11484208 | 2001 |
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0.760 | GeneticVariation | BEFREE | In order to verify whether the mutations S252W and P253R could also cause a milder phenotype, without involvement of the limbs, we have screened 22 patients with clinical characteristics compatible with Crouzon or Pfeiffer syndrome for these two particular changes. | 9719378 | 1998 |
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C | 0.760 | CausalMutation | CLINVAR |