FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal. 9150725 1997
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease UNIPROT This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal. 9150725 1997
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 8651276 1996
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease UNIPROT FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708 1996
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. 7719344 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE All mutations described so far for other craniosynostotic syndromes with associated limb anomalies--Jackson-Weiss, Pfeiffer, and Apert--also occur in the extracellular domain of FGFR2, as well as FGFR1 for Pfeiffer syndrome. 7493034 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. 7719345 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease BEFREE Interestingly, this T to C change is identical to a mutation in FGFR2 previously reported in Crouzon syndrome, a phenotypically similar disorder but one lacking the hand and foot anomalies seen in PS. 7795583 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease UNIPROT FGFR2 mutations in Pfeiffer syndrome. 7719333 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease UNIPROT We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. 7719345 1995
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 CausalMutation disease CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
1.000 GeneticVariation disease CLINVAR
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450 2016
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease BEFREE Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes. 25706251 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease CLINVAR A novel mutation in FGFR2. 25425289 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936 2014