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: rs1564919048
rs1564919048
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C4011556
Disease:
Abnormal eyebrow morphology
A 0.700 CausalMutation CLINVAR
dbSNP: rs1564919048
rs1564919048
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C4023458
Disease:
Abnormal shape of the frontal region
A 0.700 CausalMutation CLINVAR
dbSNP: rs121918494
rs121918494
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0857379
Disease:
Abnormality of the pinna
C 0.700 GeneticVariation CLINVAR
dbSNP: rs121918494
rs121918494
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3280768
Disease:
Abnormality of the posterior cranial fossa
C 0.700 GeneticVariation CLINVAR
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0235942
Disease:
Abnormality of the skull
0.020 GeneticVariation BEFREE Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development. 28650109 2017
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0235942
Disease:
Abnormality of the skull
0.020 GeneticVariation BEFREE A S252W mutation of fibroblast growth factor receptor 2 (FGFR2), which is responsible for nearly two-thirds of Apert syndrome (AS) cases, causes retarded development of the skeleton and skull malformation resulting from premature fusion of the craniofacial sutures. 24489893 2014
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0235942
Disease:
Abnormality of the skull
0.010 GeneticVariation BEFREE Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development. 28650109 2017
dbSNP: rs121918494
rs121918494
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C4023749
Disease:
Abnormality of the zygomatic bone
C 0.700 GeneticVariation CLINVAR
dbSNP: rs751731391
rs751731391
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001080
Disease:
Achondroplasia
0.010 GeneticVariation BEFREE An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes. 15241680 2004
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1510455
Disease:
Acrocephalosyndactylia
C 0.700 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
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE All 3 mutations were S252W and occurred in endometrioid (type I) adenocarcinomas. 21285871 2011
dbSNP: rs11200014
rs11200014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
A 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs1057519045
rs1057519045
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519854
rs1057519854
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519901
rs1057519901
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs11200014
rs11200014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
A 0.700 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs121913476
rs121913476
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1219648
rs1219648
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000846
Disease:
Agenesis
0.010 GeneticVariation BEFREE There were associations between AXIN2, FGF3, FGF10, and FGFR2 with tooth agenesis [i.e., individuals who carried the polymorphic allele of FGFR2 (rs1219648) presented higher risk for having premolar agenesis (p = 0.02; OR = 1.8; 95% C.I., 1.1-3.0)]. 23169889 2013
dbSNP: rs77543610
rs77543610
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0002418
Disease:
Amblyopia
0.010 GeneticVariation BEFREE In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. 17189145 2006
dbSNP: rs79184941
rs79184941
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0002418
Disease:
Amblyopia
0.010 GeneticVariation BEFREE In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. 17189145 2006
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant
G 0.800 CausalMutation CLINVAR
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant
0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant
T 0.800 CausalMutation CLINVAR
dbSNP: rs121918502
rs121918502
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant
0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
dbSNP: rs121918502
rs121918502
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C2936791
Disease:
Antley-Bixler Syndrome, Autosomal Dominant
C 0.800 CausalMutation CLINVAR