PRKD1, protein kinase D1, 5587

N. diseases: 171; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.010 Biomarker disease BEFREE Furthermore, PKD inhibitor CID755673, given after the initiation of pancreatitis in experimental rat model, significantly attenuated the severity of acute pancreatitis. 29270134 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.350 GeneticVariation group BEFREE The PRKD1 E710D hotspot mutation is highly specific in separating polymorphous adenocarcinoma of the palate from adenoid cystic carcinoma and pleomorphic adenoma on FNA. 29266837 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.350 GeneticVariation group BEFREE Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 25240283 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.350 GeneticVariation group BEFREE Polymorphous (low-grade) adenocarcinomas are characterized by hot spot point E710D mutations in the PRKD1 gene, whereas cribriform adenocarcinoma of (minor) salivary glands origin are characterized by translocations involving the PRKD1-3 genes. 29076877 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.350 Biomarker group CTD_human Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 25240283 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.350 GeneticVariation group BEFREE Salivary gland polymorphous low-grade adenocarcinomas commonly harbor activating PRKD1 mutations. 25367945 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.350 GeneticVariation group BEFREE Lack of PRKD2 and PRKD3 kinase domain somatic mutations in PRKD1 wild-type classic polymorphous low-grade adenocarcinomas of the salivary gland. 26426580 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 GeneticVariation disease BEFREE TP53 and PKD mutations were the two most frequently observed co-mutations in resected EGFR-mutated lung adenocarcinoma. 30820786 2019
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell 		0.300 Biomarker disease CTD_human Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 25240283 2014
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic 		0.300 Biomarker disease CTD_human Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 25240283 2014
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular 		0.300 Biomarker disease CTD_human Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 25240283 2014
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.010 GeneticVariation disease BEFREE The PRKD1 E710D hotspot mutation is highly specific in separating polymorphous adenocarcinoma of the palate from adenoid cystic carcinoma and pleomorphic adenoma on FNA. 29266837 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE Members of the protein kinase D (PKD) family, which consists of PKD1, -2 and, -3, are prominent downstream targets of PKCs and could play a major role in glioblastoma growth. 21727210 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.020 Biomarker disease BEFREE Recently, a member of the serine/threonine protein kinase D (PRKD) family, PRKD2, was shown to be a potent mediator of glioblastoma growth. 23562655 2013
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 GeneticVariation disease BEFREE Alternative PRKD1 mutations exclude PAC, and are more suggestive of ACC.Cancer Cytopathol 2018;126:275-81.© 2017 American Cancer Society. 29266837 2018
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 Biomarker disease BEFREE Furthermore, treatment of PDAC cells with protein kinase D (PKD) family inhibitors (CRT0066101 or kb NB 142-70) or with siRNAs targeting the PKD family prevented the increase of CTGF, CYR61, and CXCL5 mRNA levels in response to insulin and neurotensin stimulation. 28360038 2017
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.010 GeneticVariation disease BEFREE Alternative PRKD1 mutations exclude PAC, and are more suggestive of ACC.Cancer Cytopathol 2018;126:275-81.© 2017 American Cancer Society. 29266837 2018
CUI: C0003864
Disease: Arthritis
Arthritis 		0.010 Biomarker disease BEFREE Our results suggest a possibility that ameliorating effects of Gö6976 on CIA may be due to its ability to inhibit TLR/IL-1R-activated PKD1, which might play an important role in proinflammatory responses in arthritis, and that PKD1 could be a therapeutic target for inflammatory arthritis. 31809526 2019
CUI: C0264423
Disease: Asthma, Occupational
Asthma, Occupational 		0.300 Biomarker disease CTD_human Genes Interacting with Occupational Exposures to Low Molecular Weight Agents and Irritants on Adult-Onset Asthma in Three European Studies. 27504716 2017
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.070 GeneticVariation disease BEFREE To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. 26139440 2016
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.070 Biomarker disease BEFREE The genetic interaction was synergistic in both species, with digenic animals exhibiting phenotypes of rapidly progressive PKD and early lethality resembling classic ARPKD. 31427367 2019
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.070 Biomarker disease BEFREE Abnormal cilial function is now thought to be the primary defect in several types of PKD including autosomal recessive polycystic kidney disease and represents a novel and exciting mechanism underlying a range of human diseases. 14872199 2004
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.070 Biomarker disease BEFREE Autosomal recessive polycystic kidney disease (ARPKD) is an infantile form of PKD characterized by fusiform dilation of collecting ducts and congenital hepatic fibrosis. 12925574 2003