Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432

2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. 12884434

2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424

2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GeneticVariation CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301

2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 9586546

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057

1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 GeneticVariation CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519

1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. 7558045

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 7773284

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462

1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170

1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.970 CausalMutation CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400

1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		0.880 GeneticVariation CLINVAR Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. 10851026

2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. 29037998

2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237

2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 CausalMutation CLINVAR Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. 27028366

2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 CausalMutation CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450

2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 CausalMutation CLINVAR Mutations in the FGFR2 gene in Mexican patients with Apert syndrome. 25867380

2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation. 24489893

2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation CLINVAR Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 24656465

2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 CausalMutation CLINVAR Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 24656465

2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274

2013