Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). 27987249 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. 28679403 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). 28181399 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease 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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE When grouped according to the "International Skeletal Dysplasia Society 2010 classification" the most frequent group is "FGFR3 group" (achondroplasia). 25931420 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Gain-of-function mutations in the FGFR3 gene result in chondrodysplasias which include achondroplasia (ACH), the most common form of dwarfism, in which skull, appendicular and axial skeletons are affected. 26684019 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease 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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. 25691418 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles. 27040652 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast growth factor receptor 3) mutations. 24616001 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis. 24864036 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE FGFR3 mutation causes abnormal membranous ossification in achondroplasia. 24419316 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE We propose that meclozine is a potential therapeutic agent for treating ACH and other FGFR3-related skeletal dysplasias. 24324705 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE The classic example of a genetic disorder exhibiting a PAE is achondroplasia, caused predominantly by a single-nucleotide substitution (c.1138G>A) in FGFR3. 23740942 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 CausalMutation disease CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE FGFR3 is a negative regulator of chondrogenesis and multiple mutations with constitutive activity of FGFR3 result in achondroplasia, one of the most common dwarfisms in humans, but the molecular mechanism remains elusive. 24657641 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
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
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease MGD Achondroplasia (ACH), the most common form of dwarfism, is an inherited autosomal-dominant chondrodysplasia caused by a gain-of-function mutation in fibroblast-growth-factor-receptor 3 (FGFR3). 23200862 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease MGD Concomitantly, we analyzed the phenotype of Fgfr3(Y367C/+) mice and showed the presence of ACH-related clinical features in this mouse model. 23200862 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 AlteredExpression disease BEFREE The increased expression of PTHrP and down-regulated FGFR3 level may be responsible for the positive effects of PTH on bone phenotype of ACH and TDII mice. 22634226 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. 23200862 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. 22747519 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease MGD Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. 23200862 2013