|
rs1047100
|
|
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 |
|
rs1057519038
|
|
Syringomyelia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A novel FGFR2 mutation, Tyr281Cys, was found in familial Crouzon syndrome with Chiari I and syringomyelia.
|
12186468 |
2002 |
|
rs1057519038
|
|
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 |
|
rs1057519043
|
|
Craniofacial Dysostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our study further identified G338R FGFR2 mutation (c1012G > C) lead to inherited Crouzon syndrome.
|
29848297 |
2018 |
|
rs1057519854
|
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The two most common somatic mutations identified were S252W (in eight tumors) and N550K (in five samples).
|
17525745 |
2007 |
|
rs1057520029
|
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified one somatic heterozygous missense mutation, p.K660N (c.1980G>C), within the tyrosine kinase domain of FGFR2 in tumor tissue of a sporadic breast cancer patient, which is likely mediated by the FGFR2-IIIb isoform.
|
23527311 |
2013 |
|
rs1057520029
|
|
BREAST CANCER, SOMATIC
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have analyzed the tyrosine kinase activity of p.K660N and another recently described somatic breast cancer mutation in FGFR2, p.R203C, after expression in HEK293 cells and demonstrated that the intrinsic tyrosine kinase activity of both mutant proteins is strongly increased resulting in elevated phosphorylation and activity of downstream effectors.
|
23527311 |
2013 |
|
rs1057520029
|
|
Hypochondroplasia (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Individuals with hypochondroplasia heterozygous for the Asn540Lys substitution are significantly more disproportionate than individuals without this mutation.
|
11071087 |
2000 |
|
rs10736303
|
|
Malocclusion
|
|
0.010 |
GeneticVariation
|
BEFREE |
Five SNPs (rs2162540, rs2981578, rs1078806, rs11200014, and rs10736303) were found to be associated with skeletal malocclusions (all <i>P</i> < 0.05).
|
31509720 |
2019 |
|
rs10736303
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05).
|
22452962 |
2012 |
|
rs1078806
|
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
We obtained a significant allele P value of association with AJ breast cancer in the FGFR2 region (P = 1.5 x 10(-5), odds ratio (OR) 1.26, 95% confidence interval (CI) 1.13-1.40 at rs1078806 for all phases combined).
|
18326623 |
2008 |
|
rs1078806
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We obtained a significant allele P value of association with AJ breast cancer in the FGFR2 region (P = 1.5 x 10(-5), odds ratio (OR) 1.26, 95% confidence interval (CI) 1.13-1.40 at rs1078806 for all phases combined).
|
18326623 |
2008 |
|
rs11199993
|
|
Borderline Personality Disorder
|
|
0.010 |
GeneticVariation
|
BEFREE |
After correcting the multiple tests by permutation, one SNP (rs11199993), and a haplotype including this SNP, was found to be significantly associated with BPD.
|
22404656 |
2012 |
|
rs11199993
|
|
Bronchopulmonary Dysplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
After correcting the multiple tests by permutation, one SNP (rs11199993), and a haplotype including this SNP, was found to be significantly associated with BPD.
|
22404656 |
2012 |
|
rs11200014
|
|
Breast Cancer, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
The data showed that the homozygotes at each minor allele, rs11200014 (AA), rs1219648 (GG), rs2420946 (TT), and rs2981582 (TT), were significantly associated with an increased risk of early-onset non-familial breast cancer.
|
22374580 |
2012 |
|
rs1201848305
|
|
Axenfeld anomaly (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
A child with a different FGFR2 mutation (p.Ala344Ala, c1032 G --> A heterozygote), premature fusion of the sagittal suture, and an Axenfeld-Rieger anomaly but otherwise normal clinical course is reported.
|
16158432 |
2005 |
|
rs121913474
|
|
Solid/Multicystic Ameloblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM.
|
30216733 |
2019 |
|
rs121913474
|
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
|
31318164 |
2019 |
|
rs121913474
|
|
Craniofacial dysostosis type 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
|
31318164 |
2019 |
|
rs121913474
|
|
Craniofacial Dysostosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
|
31318164 |
2019 |
|
rs121913474
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
FGFR2 p.Cys382Arg is a known somatic driver mutation in human cancer, previously reported to result in activation of RAS signalling.
|
27095246 |
2017 |
|
rs121913474
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
FGFR2 p.Cys382Arg is a known somatic driver mutation in human cancer, previously reported to result in activation of RAS signalling.
|
27095246 |
2017 |
|
rs121913476
|
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The two most common somatic mutations identified were S252W (in eight tumors) and N550K (in five samples).
|
17525745 |
2007 |
|
rs121913478
|
|
Multiple Myeloma
|
|
0.010 |
GeneticVariation
|
BEFREE |
PRO-001 did not inhibit constitutive activation of K650E, G384D, and Y373C FGFR3 in myeloma cell lines and failed to inhibit the growth of these cells.
|
16467200 |
2006 |
|
rs121913478
|
|
Thanatophoric dysplasia, type 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes.
|
9843049 |
1998 |