rs121913478, FGFR2

N. diseases: 17
Disease: Thanatophoric dysplasia, type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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