CDK12, cyclin dependent kinase 12, 51755

N. diseases: 54; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.330 CausalMutation disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.330 CausalMutation disease CGI
CUI: C0496920
Disease: Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of ovary 		0.300 CausalMutation disease CGI
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.300 CausalMutation disease CGI
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.300 GeneticVariation disease UNIPROT
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 GeneticVariation disease CLINVAR
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE This analysis identified both pervasive subclonal somatic point-mutations and a small subset of predominantly clonal and homozygous mutations, which were overrepresented in the tumor suppressor genes TP53 and NF1 and in a candidate tumor suppressor gene CDK12. 22544022 2012
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.100 GeneticVariation group GWASDB Genome-wide association and functional follow-up reveals new loci for kidney function. 22479191 2012
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Notably, integration of the list of candidate sensitivity genes with data from tumor DNA sequencing studies identified CDK12 deficiency as a clinically relevant biomarker of PARP1/2 inhibitor sensitivity. 24240700 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 GeneticVariation disease BEFREE In addition, genomic disruption of CDK12 caused by out-of-frame rearrangements was found in one MPC and in 13% of HER2-positive breast cancers, identified through a re-analysis of publicly available massively parallel sequencing data. 24395524 2014
CUI: C3472608
Disease: Micropapillary carcinoma
Micropapillary carcinoma 		0.010 GeneticVariation disease BEFREE In addition, genomic disruption of CDK12 caused by out-of-frame rearrangements was found in one MPC and in 13% of HER2-positive breast cancers, identified through a re-analysis of publicly available massively parallel sequencing data. 24395524 2014
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.330 GeneticVariation disease BEFREE CDK12 is among only nine genes with recurrent somatic mutations in high-grade serous ovarian carcinoma. 25712099 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.330 GeneticVariation disease BEFREE CDK12 is among only nine genes with recurrent somatic mutations in high-grade serous ovarian carcinoma. 25712099 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE We propose that CDK12 is a tumor suppressor of which the loss-of-function mutations may elicit defects in multiple DNA repair pathways, leading to genomic instability underlying the genesis of the cancer. 25712099 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE We propose that CDK12 is a tumor suppressor of which the loss-of-function mutations may elicit defects in multiple DNA repair pathways, leading to genomic instability underlying the genesis of the cancer. 25712099 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 GeneticVariation group BEFREE We propose that CDK12 is a tumor suppressor of which the loss-of-function mutations may elicit defects in multiple DNA repair pathways, leading to genomic instability underlying the genesis of the cancer. 25712099 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.030 GeneticVariation disease BEFREE CDK12 is among only nine genes with recurrent somatic mutations in high-grade serous ovarian carcinoma. 25712099 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 AlteredExpression phenotype BEFREE In vitro, HeLa cells with down regulated LAPTM4B also exhibited decreased migration and invasion activity as well as significantly reduced CDK12, HIF-1α, MMP-2, MMP-9 and VEGF expression. 26383850 2015
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.330 GeneticVariation disease BEFREE CDK12 is a recurrently mutated gene in serous ovarian carcinoma, whose downregulation is associated with impaired expression of DNA damage repair genes and subsequent hypersensitivity to DNA-damaging agents and PARP1/2 inhibitors. 26787835 2016
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.330 GeneticVariation disease BEFREE CDK12 mutations have been reported in many cancers and have been suggested as a cause of defective DNA repair in ovarian carcinoma. 27662623 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.330 GeneticVariation disease BEFREE Moreover, CDK12-inactivating mutations together with the TD-plus phenotype were also observed in prostate cancers. 26787835 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.330 GeneticVariation disease BEFREE This genomic instability, denoted as the CDK12 TD-plus phenotype, is remarkably distinct from other alteration patterns described in breast and ovarian cancers. 26787835 2016
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.330 GeneticVariation disease BEFREE CDK12 mutations have been reported in many cancers and have been suggested as a cause of defective DNA repair in ovarian carcinoma. 27662623 2016