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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 Biomarker group BEFREE The analysis of the extended 24-gene panel provided 25 additional PVs (2%), including in 4 out of 51 individuals harboring MMR-proficient colorectal tumors (2 CHEK2 and 2 ATM). 30927264 2019
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 GeneticVariation group LHGDN CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer. 18676774 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 GeneticVariation group LHGDN Mutation analysis of the checkpoint kinase 2 gene in colorectal cancer cell lines. 18167186 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 GeneticVariation group LHGDN Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? 17106448 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 GeneticVariation group LHGDN CHEK2 I157T associates with familial and sporadic colorectal cancer. 16816021 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 GeneticVariation group LHGDN Genetic and epigenetic analysis of CHEK2 in sporadic breast, colon, and ovarian cancers. 17145815 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 GeneticVariation group LHGDN Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes. 17026620 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 Biomarker group CTD_human The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. 12690581 2003
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.380 GeneticVariation group LHGDN The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. 12690581 2003