rs77543610, FGFR2

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
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
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.760 GeneticVariation BEFREE Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565 2014
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
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
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
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
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
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
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
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
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.760 CausalMutation CLINVAR