CHEK2, checkpoint kinase 2, 11200

N. diseases: 48; N. variants: 209
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.110 CausalMutation group CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354 2004