FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
Source: ALL
Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. 28679403 2018
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE Furthermore, we demonstrate preferential elimination of the dominant-negative FGFR3 c.1138G>A allele in fibroblasts of an individual affected by achondroplasia. 26686765 2016
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE A group of unrelated patients (n=82), characterized by short stature, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, mucolipidosis type II/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study. 26377240 2016
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE The G380R mutation in the transmembrane domain of FGFR3 is a germline mutation responsible for most cases of Achondroplasia, a common form of human dwarfism. 27040652 2016
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 CausalMutation CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2016
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 GeneticVariation BEFREE The present case of hypochondroplasia and FGFR3 mutation in Asn540Lys associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy underscores the possibility of a rare syndrome. 24630288 2015
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 GeneticVariation BEFREE Homozygous N540K hypochondroplasia--first report: radiological and clinical features. 24715719 2015
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease:
Muenke Syndrome
0.900 GeneticVariation BEFREE A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. 24168007 2015
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2014
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET. 23056398 2013
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 GeneticVariation BEFREE Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434 2013
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 GeneticVariation BEFREE Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795 2013
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease:
Muenke Syndrome
0.900 GeneticVariation BEFREE The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. 22872265 2013
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE The G380R mutation accounts for 98% of the achondroplasia cases, and thus has been studied extensively. 22529939 2012
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. 22339077 2012
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 GeneticVariation BEFREE A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. 22137367 2012
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease:
Muenke Syndrome
0.900 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757 2012
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. 21739570 2011
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. 20963478 2011
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 GeneticVariation BEFREE The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism. 21324899 2011
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
0.900 CausalMutation CLINVAR FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 21324899 2011
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.900 GeneticVariation BEFREE Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. 21225389 2011
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease:
Muenke Syndrome
0.900 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431 2011