Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.100 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis. 25931420

2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Executive Function and Adaptive Behavior in Muenke Syndrome. 26028288

2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 24864036

2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.100 GeneticVariation CLINVAR Tumour cell responses to new fibroblast growth factor receptor tyrosine kinase inhibitors and identification of a gatekeeper mutation in FGFR3 as a mechanism of acquired resistance. 22869148

2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. 23378035

2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Growth and development in thanatophoric dysplasia - an update 25 years later. 25356217

2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. 23740942

2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Evolution and functional impact of rare coding variation from deep sequencing of human exomes. 22604720

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. 23165795

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.100 GeneticVariation CLINVAR Constitutively active FGFR3 with Lys650Glu mutation enhances bortezomib sensitivity in plasma cell malignancy. 21273588

2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.100 GeneticVariation CLINVAR Bortezomib therapeutic effect is associated with expression of FGFR3 in multiple myeloma cells. 19331127

2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Brain and bone abnormalities of thanatophoric dwarfism. 19098178

2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Significant phenotypic variability of Muenke syndrome in identical twins. 19449410

2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. 18344207

2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Achondroplasia: from genotype to phenotype. 17950653

2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Achondroplasia. 18328977

2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Crouzon with acanthosis nigricans. Further delineation of the syndrome. 17935505

2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976

2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574

2006
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 15241680

2004