FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406 2017
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230 2014
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177 2014
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114 2013
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 19610084 2009
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 18726952 2009
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Pfeiffer syndrome. 16740155 2006
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Limbal stem cell deficiency associated with LADD syndrome. 15883293 2005
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 15793702 2005
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323 2001
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 10735635 2000
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195 2000
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911 1999
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583 1998
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032 1995
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615 1993
dbSNP: rs121918490
rs121918490
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658 1992