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: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		0.100 Biomarker phenotype HPO
CUI: C4025040
Disease: Abnormality of the femoral metaphysis
Abnormality of the femoral metaphysis 		0.100 Biomarker disease HPO
CUI: C4025038
Disease: Abnormality of the tibial metaphysis
Abnormality of the tibial metaphysis 		0.100 Biomarker disease HPO
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 AlteredExpression disease BEFREE CHEK2 mRNA expression in the CD group was significantly higher than that in the acromegaly group (p = 0.012). 31828584 2020
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 AlteredExpression disease BEFREE Whereas intermediate-1 MDS samples contained as little P-Chk-1 and P-Chk-2 as healthy controls, staining for both checkpoint kinases increased in intermediate-2 and high-risk MDS, yet declined to near-to-background levels in AML samples. 19398952 2009
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 AlteredExpression disease BEFREE PML/RARalpha in APL suppresses Chk2 by dominantly inhibiting the auto-phosphorylation step, but inactivation of PML/RARalpha with alltrans retinoic acid (ATRA) restores Chk2 autophosphorylation and activity. 16835227 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation group 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: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 CausalMutation disease CLINVAR
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.100 GeneticVariation disease CLINVAR
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 Biomarker disease BEFREE The CHEK2 pathway may be important for the proliferation of lung adenocarcinoma, especially in tumors with chromosomal instability. 28373435 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 Biomarker disease BEFREE Importantly, both CHK2 and BRCA1 are lost at very high frequency in aneuploid lung adenocarcinomas that are typically induced in knockout mice exhibiting chromosomal instability. 21118151 2010
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.300 CausalMutation disease CGI
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.300 GenomicAlterations disease CGI
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 PosttranslationalModification group BEFREE Chk2, phosphorylated Chk2 (pChk2), and TP53 were immunostained in 4 cases of adenoma (AD), 5 non-mucinous adenocarcinomas (AC), 29 low-grade appendiceal mucinous neoplasms (LAMN), and 7 mucinous adenocarcinomas (MAC). 25155618 2014
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.020 Biomarker disease BEFREE In vivo, active Chk2 was detected at the earliest stages of the colorectal adenoma-to-carcinoma transition, persisted in advanced tumors, and correlated with increased survivin expression. 22586065 2012
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.020 GeneticVariation disease BEFREE To further our knowledge about the contribution of CHEK2 1100delC to cancer incidence we have analysed a series of 149 patients with multiple colorectal adenomas some of whom developed colorectal cancer. 14568168 2003
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.040 GeneticVariation disease BEFREE Given the low expected mutation rate of up to 1.4% for CHEK2 * 1100delC in the European population our data are suggestive for possible contribution of CHEK2 mutations to a small subset of FPC. 16858628 2006
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.040 GeneticVariation disease BEFREE None of the FAP/FAP-related cases carried the CHEK2 1100delC variant. 18676774 2008
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.040 GeneticVariation disease BEFREE Cumulative epidemiological evidence for a significant association with CRC risk was graded strong for eight variants in five genes (adenomatous polyposis coli (APC), CHEK2, DNMT3B, MLH1 and MUTYH), moderate for two variants in two genes (GSTM1 and TERT), and weak for 52 variants in 45 genes. 23946381 2014
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.040 GeneticVariation disease BEFREE Furthermore, the prediction of disease‑associated genes demonstrated that miR‑548c‑5p/miR‑548d‑5p and miR‑663a may regulate genes associated with rectal cancer, including mutated in colorectal cancers (MCC) and adenomatous polyposis coli (APC), and colorectal neoplasms, including interleukin‑6 signal transducer (IL6ST), cell cycle checkpoint kinase 2 (CHEK2), marker of proliferation Ki‑67 (MKI67), cadherin 7 (CDH7), calreticulin (CALR) and transforming growth factor β1 (TGFB1). 29956755 2018
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.010 Biomarker disease BEFREE HBV infection potentiates resistance to S-phase arrest-inducing chemotherapeutics by inhibiting CHK2 pathway in diffuse large B-cell lymphoma. 29352124 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE H1/pHGFK1 exerts anti-tumoural and radiosensitive activities mainly through the inhibition and reversal of IR-induced MET and ATM-Chk2 axis activities in glioblastoma. 29348487 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 GeneticVariation disease BEFREE No association between the CHEK2 SNP and glioblastoma formation was observed. 17016233 2006
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		0.020 AlteredExpression disease BEFREE We found that all HL cell lines exhibited a drastic reduction in Chk2 expression without any apparent mutation of the Chk2 gene. 15153943 2004