Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease MGD Brain phenotypes in two FGFR2 mouse models for Apert syndrome. 20077479 2010
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease CTD_human Apert syndrome: report of a case with emphasis on craniofacial and genetic features. 19186770 2009
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN A lethal point mutation was found in FGFR2 in a fetus with Pfeiffer syndrome and multiple pterygia. 18671283 2008
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 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: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN Osteogenic potential of Apert syndrome periosteal cells with FGFR2 p.Ser252Trp mutation was tested; these cells are more committed toward the osteoblast lineage. 17622301 2007
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. 17189145 2007
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN there was a differential effect of FGFR2 mutations in ophthalmic findings in patients with Apert syndrome, with significantly greater prevalence of visual impairment in the Ser252Trp mutation compared with the Pro253Arg mutation 17251833 2007
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN FGFR2 gene mutation is involved in Apert syndrome with preaxial polydactyly. 16440883 2006
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease LHGDN Review/in understanding the molecular basis for Apert syndrome through clinical genetic, biochemical, & structural approaches of FGFR2 are reviewed. 15622262 2005
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease LHGDN provides genetic and biochemical evidence for a role of Fgfr2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in Saethre-Chotzen syndrome 15829502 2005
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease LHGDN Associated with Pfeiffer syndrome 11556600 2002
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease MGD A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. 11274405 2001
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease CLINVAR Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. 10851026 2000
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 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: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GermlineCausalMutation disease ORPHANET