FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 60; N. variants: 39
Disease: Craniosynostosis ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 28249712 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 27139183 2016
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388 2016
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 25809207 2016
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. 26818779 2016
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 25606676 2015
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418 2015
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871 2014
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. 24476948 2014
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3. 23437153 2013
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636 2012
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434 2012
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795 2012
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570 2011
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009 2011
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014 2011
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 20453470 2010
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 20199409 2010
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. 19749790 2009
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 19088846 2008
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668 2008
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 18583390 2008
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876 2007
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684 2007
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006