FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Saethre-Chotzen Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.410 GeneticVariation disease BEFREE In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre-Chotzen syndrome. 26289989 2015
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.410 CausalMutation disease CLINVAR
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.410 GeneticVariation disease ORPHANET