FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 GeneticVariation BEFREE A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. 18987480 2008
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 GeneticVariation UNIPROT Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 10360402 1999
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 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
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 GeneticVariation UNIPROT G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. 9790257 1998
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 GeneticVariation UNIPROT Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online. 10671061 1998
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 GeneticVariation UNIPROT Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844 1996
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 GeneticVariation UNIPROT Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 7773297 1995
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.820 GeneticVariation UNIPROT Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699 1995
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		G 0.820 CausalMutation CLINVAR