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 GeneticVariation disease BEFREE Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. 15221641 2004
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses. 16575888 2006
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 GeneticVariation disease BEFREE A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs. 27836589 2017
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type. 25119967 2016
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. 9001669 1997
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Gain-of-function mutations in fibroblast growth factor receptor-3 (FGFR3) lead to several types of human skeletal dysplasia syndromes including achondroplasia, hypochondroplasia and thanatophoric dysplasia (TD). 23014564 2013
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. 9718331 1998
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 Fibroblast growth factor receptors 3 (FGFR3) with K644M/E substitutions are associated to the severe skeletal dysplasias: severe achondroplasia with developmental delay and achanthosis nigricans(SADDAN) and thanatophoric dysplasia(TDII). 16476447 2006
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. 16411219 2006
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease 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
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Adjusting for confounders, we found major associations between age and the frequencies of sperm with DFI and fibroblast growth factor receptor 3 gene (FGFR3) mutations associated with achondroplasia (P < 0.01) with no evidence for age thresholds. 16766665 2006
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembrane domain of the fibroblast growth factor receptor 3 gene was found to cause achondroplasia among different populations. 10979354 2000
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. 8599935 1996
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 Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin. 16841094 2006
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes. 7913883 1994
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 We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype. 8661097 1996
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor. 11518810 2002
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Within the past year, the achondroplasia locus has been mapped to 4p 16.3 (refs 5-7) and mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in patients with the disorder. 7670477 1995
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. 9199352 1997
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GeneticVariation disease BEFREE Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast growth factor receptor 3) mutations. 24616001 2015
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