rs878853138, PIEZO2

N. diseases: 1
Disease: Oculomelic amyoplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Oculomelic amyoplasia
CUI: C1862472
Disease: Oculomelic amyoplasia
0.700 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014