FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 93; N. variants: 98
Disease: Saethre-Chotzen Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 Biomarker disease CTD_human Apert syndrome: report of a case with emphasis on craniofacial and genetic features. 19186770 2009
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 Biomarker disease CTD_human RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. 17694057 2007
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 GeneticVariation disease ORPHANET Clinical spectrum of fibroblast growth factor receptor mutations. 10425034 1999
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 Biomarker disease CTD_human Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. 9502772 1998
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 GeneticVariation disease ORPHANET Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3. 9585583 1998
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		0.740 Biomarker disease CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997