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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.130 GeneticVariation disease GWASCAT Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. 24880342 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.130 GeneticVariation disease GWASCAT Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999 2012
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.130 PosttranslationalModification disease BEFREE These results suggest that the down-regulation of CHK2 gene via distal CGI methylation may play a role in the pathogenesis of NSCLC, particularly squamous cell carcinoma. 19362748 2009
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.130 GeneticVariation disease BEFREE We found CHEK2(*)1100delC in 0.5% of 190 oesophageal squamous cell carcinomas and in 1.5% of 196 oesophageal adenocarcinomas. 14970869 2004
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.130 GeneticVariation disease LHGDN Taken together, these observations reveal that genetic but not epigenetic changes in CHK2 occur in a small proportion of vulval squamous cell carcinomas. 11875739 2002
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.130 GeneticVariation disease BEFREE Taken together, these observations reveal that genetic but not epigenetic changes in CHK2 occur in a small proportion of vulval squamous cell carcinomas. 11875739 2002