Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease LHGDN A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. 11556600 2001
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 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 GeneticVariation disease LHGDN A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia. 18671283 2008
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. 17622301 2007
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. 17189145 2006
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 GermlineCausalMutation disease ORPHANET Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. 23593218 2013
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 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 Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities. 15282208 2004
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. 16440883 2005
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 GeneticVariation disease LHGDN Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. 17251833 2007
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 LHGDN A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre-Chotzen syndrome. 15829502 2005
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
0.880 Biomarker disease LHGDN Understanding the molecular basis of Apert syndrome. 15622262 2005
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