Source: ALL

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 CausalMutation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658

1992
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Phenotypic variation in LADD syndrome. 4078868

1985
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615

1993
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615

1993
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911

1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Clinical variability in patients with Apert's syndrome. 10067911

1999
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 Biomarker CTD_human An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. 10631169

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 10735635

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872

2002