rs121913478, FGFR2

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.810 GeneticVariation BEFREE The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. 17449949 2007
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
0.010 GeneticVariation BEFREE PRO-001 did not inhibit constitutive activation of K650E, G384D, and Y373C FGFR3 in myeloma cell lines and failed to inhibit the growth of these cells. 16467200 2006
Thanatophoric dysplasia, type 1
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
0.010 GeneticVariation BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049 1998
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
0.010 GeneticVariation BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049 1998
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.010 GeneticVariation BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049 1998
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.810 CausalMutation CLINVAR
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.800 CausalMutation CLINVAR
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.700 CausalMutation CLINVAR
Stomach Neoplasms
CUI: C0038356
Disease: Stomach Neoplasms
0.700 CausalMutation CLINVAR
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
0.700 CausalMutation CLINVAR
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.700 CausalMutation CLINVAR
Endometrial Neoplasms
CUI: C0014170
Disease: Endometrial Neoplasms
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
0.700 CausalMutation CLINVAR
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.700 CausalMutation CLINVAR
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 CausalMutation CLINVAR
Antley-Bixler Syndrome, Autosomal Dominant
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
0.700 CausalMutation CLINVAR
BENT BONE DYSPLASIA SYNDROME
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
0.700 CausalMutation CLINVAR
Endometrial Neoplasms
CUI: C0014170
Disease: Endometrial Neoplasms
0.700 GeneticVariation CLINVAR Targeting mutant fibroblast growth factor receptors in cancer. 21367659 2011
Saethre-Chotzen Syndrome
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
0.700 CausalMutation CLINVAR
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.810 GeneticVariation UNIPROT Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
0.810 GeneticVariation UNIPROT Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. 12000365 2002
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.800 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
0.800 GeneticVariation UNIPROT Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
0.800 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
0.800 GeneticVariation UNIPROT FGFR2 mutations in Pfeiffer syndrome. 7719333 1995