FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease MGD Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. 23200862 2013
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET. 23056398 2013
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Therefore, the FgfR3 (P244R) mouse provides an excellent opportunity to study disease mechanisms of some classical phenotypes of Muenke syndrome and to test novel therapeutic strategies. 22872265 2013
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease BEFREE Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. 23378035 2013
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 Biomarker disease BEFREE Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. 23044018 2013
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Instead, the phosphorylation efficiency within un-liganded FGFR3 dimers is increased, and this increase is likely the underlying cause for pathogenesis in achondroplasia. 22529939 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. 22339077 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE A regulation that occurs mainly in the mesomelic segments, a region where SHOX is known to be strongly expressed, offers a possible explanation for the phenotypes seen in patients with FGFR3 (e.g. achondroplasia) and SHOX defects (e.g.Léri-Weill dyschondrosteosis). 22946287 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. 21910223 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH). 22045636 2012
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE FGFR3 targeting strategies for achondroplasia. 22559284 2012
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease 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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 CausalMutation disease CLINVAR FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 21324899 2011
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. 20673820 2011
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. 21739570 2011
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. 20963478 2011
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 CausalMutation disease CLINVAR 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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE These observations make ERK1 and ERK2 an attractive target for the treatment of achondroplasia and other FGFR3-related skeletal syndromes. 20922792 2011
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of growth and differentiation, whose aberrant activation causes a number of genetic diseases including achondroplasia and cancer. 21487019 2011
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 CausalMutation disease CLINVAR Achondroplasia is a heterozygous disorder, and thus the affected individuals express both wild-type and mutant FGFR3. 21324899 2011
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker disease BEFREE FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 21324899 2011
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
1.000 GeneticVariation disease 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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Activating mutations of the FGFR3 gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD), achondroplasia and hypochondroplasia. 19898608 2010
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 CausalMutation disease CLINVAR Instead, FGFR3 activity in achondroplasia is increased due to increased probability for phosphorylation of the unliganded mutant dimers. 20624921 2010
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE This mechanism was present in ACH children carrying the G380R mutation but also in a patient in whom no mutation could be detected in the entire coding region of the FGFR3 gene. 19802676 2010