Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911

1999

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Limbal stem cell deficiency associated with LADD syndrome. 15883293

2005

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Pfeiffer syndrome. 16740155

2006

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Limbal stem cell deficiency associated with LADD syndrome. 15883293

2005

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565

2005

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032

1995

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 15793702

2005

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615

1993

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911

1999

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195

2000