FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE A 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene. 29215649 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 Biomarker disease BEFREE The genes related to the pathogenesis of the craniosynostoses itself are those encoding transcription factors, e.g., TWIST1, MSX2, EN1, and ZIC1, and proteins involved in osteogenic proliferation, differentiation, and homeostasis, such as FGFR1, FGFR2, RUNX2, POR, and many others. 29392564 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 27683237 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. 28129408 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. 28411082 2017
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome. 24578066 2014
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease LHGDN Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. 17414280 2007
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 Biomarker disease GENOMICS_ENGLAND Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. 15625620 2005
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis. 12627230 2003
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified. 12244552 2002
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). 10942429 2000
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE We provide linkage evidence using intragenic and flanking microsatellite markers suggesting that the disease in this family was not caused by a mutation in one of the known craniosynostosis loci (FGFR1, FGFR2, FGFR3, MSX2, TWIST). 11074486 2000
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. 10751173 2000
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Mutations in the fibroblast growth factor receptor 1, 2 and 3 (FGFR1, -2 and -3) and TWIST genes have been identified in several syndromic forms of craniosynostosis. 10951518 2000
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE All except one of these cases carried no mutations in the FGFR1-3 domains indicated as hot spots for craniosynostosis-associated mutations. 10447608 1999
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. 10394936 1999
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 GeneticVariation disease BEFREE A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. 7719345 1995
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 Biomarker disease CTD_human
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.700 Biomarker disease HPO