FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 GeneticVariation disease BEFREE Taken together, these results indicate that the P250R FGFR3 mutation is mostly familial and is associated with a more severe phenotype in females than in males. 9950359 1999
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 GeneticVariation disease BEFREE The ratios of familial and sporadic cases among patients which carried FGFR3 mutation were similar. 10395236 1998
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 GeneticVariation disease BEFREE We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families. 8742128 1996