Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 19610084

2009

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 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

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 19610084

2009

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation 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

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Pfeiffer syndrome. 16740155

2006

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Pfeiffer syndrome. 16740155

2006

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565

2005