CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE The results suggest that CHEK2 variants are low-penetrance prostate cancer predisposition alleles that contribute significantly to familial clustering of prostate cancer at the population level. 14612911 2003
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease UNIPROT Overall, our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage-signaling pathway may play an important role in the development of prostate cancer. 12533788 2003
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease BEFREE Furthermore, the CHEK2 1100delC variant carried by 1% of the population has been shown to act as a low penetrance allele for both breast and prostate cancers. 14568168 2003
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease CTD_human Overall, our data suggest that mutations in CHEK2 may contribute to prostate cancer risk and that the DNA-damage-signaling pathway may play an important role in the development of prostate cancer. 12533788 2003
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease HPO
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 GeneticVariation disease CLINVAR
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 CausalMutation disease CLINVAR
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.800 Biomarker disease GENOMICS_ENGLAND