Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
0.050 GeneticVariation BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2013
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
0.050 GeneticVariation BEFREE Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS. 19855393 2009
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
0.050 GeneticVariation BEFREE Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia. 12297284 2002
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
0.050 GeneticVariation BEFREE In all other cases, the femora were curved, and CS was infrequently present but was occasionally as severe as TD with the Lys650Glu substitution. 9677066 1998
Thanatophoric Dysplasia
CUI: C0039743
Disease: Thanatophoric Dysplasia
0.050 GeneticVariation BEFREE A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD. 7773297 1995