Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation BEFREE One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations. 27450648 2016
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. 10360402 1999
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. 9790257 1998
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844 1996
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 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
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 GeneticVariation UNIPROT Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 7773297 1995
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.810 CausalMutation CLINVAR