FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1047100
rs1047100
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1704272
Disease:
Benign Prostatic Hyperplasia 		0.010 GeneticVariation BEFREE However, analysis according to clinical phenotypes showed that rs1047100 of FGFR2 was associated with prostate volume in BPH in the dominant model (GA/AA versus GG, P = 0.010). 24385678 2013
dbSNP: rs10510097
rs10510097
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0678222
Disease:
Breast Carcinoma 		T 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		C 0.700 GeneticVariation CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936 1999
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
dbSNP: rs1057519036
rs1057519036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001193
Disease:
Apert syndrome 		C 0.700 GeneticVariation CLINVAR Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 24656465 2014
dbSNP: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 0.700 CausalMutation CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
dbSNP: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 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: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		TA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 0.700 CausalMutation CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936 2014
dbSNP: rs1057519037
rs1057519037
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1852406
Disease:
Cutis Gyrata Syndrome of Beare And Stevenson 		AA 0.700 CausalMutation CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462 1995
dbSNP: rs1057519038
rs1057519038
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		0.710 GeneticVariation BEFREE Two types of missense mutations were detected in the FGFR2 gene, Cys342Trp (1205, TGC --> TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC --> TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively. 12186468 2002
dbSNP: rs1057519038
rs1057519038
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		C 0.710 GeneticVariation CLINVAR
dbSNP: rs1057519038
rs1057519038
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0039144
Disease:
Syringomyelia 		0.010 GeneticVariation BEFREE A novel FGFR2 mutation, Tyr281Cys, was found in familial Crouzon syndrome with Chiari I and syringomyelia. 12186468 2002
dbSNP: rs1057519038
rs1057519038
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010273
Disease:
Craniofacial Dysostosis 		0.010 GeneticVariation BEFREE Two types of missense mutations were detected in the FGFR2 gene, Cys342Trp (1205, TGC --> TGG) in a patient with sporadic Crouzon syndrome and Tyr281Cys (1021, TAC --> TGC) in two siblings (brother and sister) with familial Crouzon syndrome, respectively. 12186468 2002
dbSNP: rs1057519039
rs1057519039
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057519040
rs1057519040
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057519041
rs1057519041
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0238506
Disease:
Congenital posterior urethral valves 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057519041
rs1057519041
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1057519042
rs1057519042
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519042
rs1057519042
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2931196
Disease:
Craniofacial dysostosis type 1 		C 0.700 CausalMutation CLINVAR