FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Apert syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation disease CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170 1994
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease UNIPROT These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences. 7668257 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker disease BEFREE Two specific mutations in the linking region between the second and third immunoglobulin domains of FGFR2 occur in Apert syndrome. 7655462 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation disease CLINVAR We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences. 7668257 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease UNIPROT We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. 7719344 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378 1995
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276 1996
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation disease CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174 1996
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 Biomarker disease CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in that mutation at this point in FGFR1 results in Pfeiffer syndrome and analogous mutation in FGFR2 results in Apert syndrome. 9279753 1997
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. 9700203 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 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: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease UNIPROT Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome. 9452027 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. 9462761 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease BEFREE Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. 9502772 1998
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 GeneticVariation disease CLINVAR Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936 1999
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.800 CausalMutation disease CLINVAR Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. 10406670 1999