rs766812325, RUNX2

N. diseases: 3
Disease: Apert syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
0.010 GeneticVariation BEFREE Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. 15310757 2004