Gene: FGFR3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477 1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. 10914960 2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes. 20707699 2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. 10751173 2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 27139183 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE Germline specific point mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) are associated with autosomal dominant human skeletal dysplasia and craniosynostosis syndromes. 11526491 2001
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009 2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686 1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 28249712 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 10094188 1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668 2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Achondroplasia-hypochondroplasia complex in a newborn infant. 10360392 1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease LHGDN Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. 17414280 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 Biomarker disease BEFREE Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. 23044018 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896 2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 GeneticVariation disease BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753 1997
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.200 CausalMutation disease CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014 2011