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 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: 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: 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.330 GeneticVariation disease BEFREE The median follow-up was 66.6 mo.Patients with CDK12 mutant prostate cancer exhibited shorter time to metastasis (median = 34.9 mo, p =  0.004) and development of castration-resistant disease (median = 32.7 mo, p <  0.001), compared with other genomic subtypes, with shorter time to PSA progression on first-line ARPI treatment of metastatic castration-resistant disease (median = 3.6 mo, p =  0.0219). 31640893 2020
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 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 mutations have been reported in many cancers and have been suggested as a cause of defective DNA repair in ovarian carcinoma. 27662623 2016
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.300 GeneticVariation disease UNIPROT
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE CDK12 is a kinase associated with elongating RNA polymerase II (RNAPII) and is frequently mutated in cancer. 31347271 2019
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: 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: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 28166213 2017
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE In this report, we evaluate the clinical characteristics and outcomes of patients with prostate cancer and CDK12 mutation in their tumors. 31640893 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE CDK12 mutant cases are associated with elevated neoantigen burden ensuing from fusion-induced chimeric open reading frames and increased tumor T cell infiltration/clonal expansion. 29906450 2018
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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.100 GeneticVariation disease CLINVAR
Creatinine measurement, serum (procedure)
0.100 GeneticVariation phenotype GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
Red cell distribution width determination
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
RDW - Red blood cell distribution width result
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE CDK12 is a kinase associated with elongating RNA polymerase II (RNAPII) and is frequently mutated in cancer. 31347271 2019