rs28931615, FGFR3

N. diseases: 13
Disease: Bladder Neoplasm ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.020 GeneticVariation BEFREE First, we show that the A391E mutation, linked to Crouzon syndrome with acanthosis nigricans and to bladder cancer, significantly enhances FGFR3 dimerization in the absence of ligand and thus induces aberrant receptor interactions. 26244699 2015
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.020 GeneticVariation BEFREE An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer. 16384584 2006