rs121918502, FGFR2

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 CausalMutation CLINVAR
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.800 CausalMutation CLINVAR
PFEIFFER SYNDROME, TYPE III
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
0.700 CausalMutation CLINVAR
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene. 9693549 1998
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. 10574673 1999
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. 9152842 1997
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. 10394936 1999
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). 11173845 2000
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome. 7581378 1995
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. 8956050 1996
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation 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
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation 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
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT FGFR2 mutations in Pfeiffer syndrome. 7719333 1995
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE FGFR3 mutations (p.S249C) were found in 8.5% (6/71) of tumors and were significantly associated with FGFR3 protein overexpression (p < 0.001), and unfavourable clinical outcome (p = 0.001). 27669755 2016
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.710 CausalMutation CLINVAR Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 18391498 2008
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation UNIPROT Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. 7719345 1995
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.820 GeneticVariation UNIPROT Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. 16844695 2006