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: 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: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		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: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.010 Biomarker disease BEFREE Little is known about the role of CHEK2 in urothelial carcinoma of the bladder (UCB). 31506803 2019
CUI: C0008487
Disease: Chordoma
Chordoma 		0.010 GeneticVariation disease BEFREE Here we show, using whole-exome and genome sequencing within a precision oncology program, that advanced chordomas (n = 11) may be characterized by genomic patterns indicative of defective homologous recombination (HR) DNA repair and alterations affecting HR-related genes, including, for example, deletions and pathogenic germline variants of BRCA2, NBN, and CHEK2. 30967556 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 Biomarker disease BEFREE CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. 31349801 2019
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.010 AlteredExpression disease BEFREE Cells depleted with RecQL4 or Rothmund-Thomson syndrome cells showed significant impairment in the activation of ATM and the downstream effector proteins such as checkpoint kinase 2 and p53 after DNA damage. 30594395 2019
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.010 AlteredExpression disease BEFREE In conclusion, UCHL1 loss correlates with metastatic potential in PNETs and its re-expression induces a less aggressive phenotype in vitro, in part by inducing cell-cycle arrest through post-translational regulation of phosphorylated CHK2. 30689542 2019
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.010 GeneticVariation disease BEFREE The most frequent molecular alterations were neurofibromin 2 mutations (n = 2; 40%), germline alterations (n = 2; 40%) including checkpoint kinase 2 and BRCA2 DNA repair associated mutations, multiple chromosomal copy number losses, and mismatch repair deficiency in 1 patient. 31151928 2019
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 Biomarker disease BEFREE Here, we used our raft culture system to examine effects of inhibitors of ATR/Chk1 and ATM/Chk2 on HPV infection. 31683862 2019
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy 		0.010 GeneticVariation phenotype BEFREE Germline mutations in checkpoint kinase 2 (CHEK2), a multiple cancer-predisposing gene, increase breast cancer (BC) risk; however, risk estimates differ substantially in published studies. 31050813 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 Biomarker phenotype BEFREE Here we show that Rad53 drives the hyper-SUMOylation of Pol2, the catalytic subunit of DNA polymerase ε, principally following replication forks stalling induced by nucleotide depletion. 31765407 2019
CUI: C0684337
Disease: Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Ewings sarcoma-primitive neuroectodermal tumor (PNET) 		0.010 AlteredExpression disease BEFREE In conclusion, UCHL1 loss correlates with metastatic potential in PNETs and its re-expression induces a less aggressive phenotype in vitro, in part by inducing cell-cycle arrest through post-translational regulation of phosphorylated CHK2. 30689542 2019
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.010 GeneticVariation disease BEFREE Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma. 30672594 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 GeneticVariation disease BEFREE Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 rs17879961" genes_norm="11200">I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. 30672594 2019
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		0.010 GeneticVariation disease BEFREE Finally, we show that a Cdc45 mutation found in patients with Meier-Gorlin syndrome disrupts the functional interaction with Rad53 in yeast. 30595439 2019
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.010 Biomarker disease BEFREE Little is known about the role of CHEK2 in urothelial carcinoma of the bladder (UCB). 31506803 2019
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 Biomarker disease BEFREE CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. 31349801 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE We demonstrate that two components of the DNA damage response, Checkpoint kinase 2 and its downstream target p53, determine the frequency of ovarian atrophy that is associated with P-element hybrid dysgenesis. 29294306 2018
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Of genes not previously associated with RCC risk, CHEK2 was overrepresented in patients compared with the general population, with an odds ratio of RCC of 3.0 (95% CI, 1.3-5.8; P = .003). 29978187 2018
CUI: C0014057
Disease: Japanese Encephalitis
Japanese Encephalitis 		0.010 Biomarker disease BEFREE We identified CHK2 as a cellular factor participating in JEV replication, for a new strategy in addressing JEV infection. 29868498 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 GeneticVariation disease BEFREE Moreover, overexpression of wild-type CHK2 rather than its unphosphorylated mutant (T68A) significantly restored the reduced chemosensitivity in HBX-expressing cells, suggesting that HBV infection conferred resistance to chemotherapeutics that induced S-phase arrest by specifically inhibiting the activation of CHK2 response signaling in DLBCL. 29352124 2018
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		0.010 Biomarker disease BEFREE The present study assessed the expression of the DNA doublestrand repair (DDR) proteins ATM serine/threonine kinase (ATM), checkpoint kinase 2 (CHEK2) and γH2A histone family member X (γH2AFX) in oral leukoplakia (OL) and evaluated their clinical significance and usefulness as biomarkers for predicting OL transformation. 29928356 2018
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 Biomarker group BEFREE Human Kinase/Phosphatase-Wide RNAi Screening Identified Checkpoint Kinase 2 as a Cellular Factor Facilitating Japanese Encephalitis Virus Infection. 29868498 2018
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.010 Biomarker disease BEFREE In CHEK2-positive MDS patients, two times higher frequency of aberrant karyotypes than in CHEK2-negative patients was found (71% vs. 37%, p = 0.015). 29902706 2018
CUI: C0677781
Disease: Neurofibromatosis 1 and 2 (NF1 and NF2)
Neurofibromatosis 1 and 2 (NF1 and NF2) 		0.010 GeneticVariation disease BEFREE Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports. 29879026 2018