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
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: C4277690
Disease: Ciliopathies
Ciliopathies
0.030 Biomarker disease BEFREE Primary cilia have been considered central to PKD pathogenesis due to protein localization and common cystic phenotypes in syndromic ciliopathies, but their relevance is questioned in the simple PKDs. 31427367 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.010 AlteredExpression disease BEFREE Pharmacological activation of PKD counters SINGD and delays the onset of T2D. 31346174 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 Biomarker phenotype BEFREE Protein kinase D1 (PKD1) is a serine/threonine kinase that belongs to the calcium/calmodulin-dependent kinase family, and is involved in multiple mechanisms implicated in tumor progression such as cell motility, invasion, proliferation, protein transport, and apoptosis. 31311827 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 AlteredExpression phenotype BEFREE While it is expressed in most tissues in the normal state, PKD1 expression may increase or decrease during tumorigenesis, and its role in proliferation is context-dependent and poorly understood. 31311827 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.030 Biomarker phenotype BEFREE Protein kinase D1 (PKD1) is a serine/threonine kinase that belongs to the calcium/calmodulin-dependent kinase family, and is involved in multiple mechanisms implicated in tumor progression such as cell motility, invasion, proliferation, protein transport, and apoptosis. 31311827 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 31268507 2019
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases
0.100 Biomarker group BEFREE Discoidin Domain Receptor 1 (DDR1) tyrosine kinase is upregulated in PKD kidneys but does not play a role in the pathogenesis of polycystic kidney disease. 31260458 2019
Polycystic Kidney, Autosomal Dominant
0.100 Biomarker disease BEFREE However, genetic deletion of DDR1 using CRISPR/Cas9 failed to slow cyst growth or preserve kidney function in both a rapid and slow mouse model of ADPKD demonstrating that DDR1 does not play a role in PKD pathogenesis and is thus a not viable drug target. 31260458 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE In addition, the high levels of expression of PKD1, observed in highly proliferative cancers and tumors with poor prognosis, contribute to enhanced resistance to chemotherapy. 31167779 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 AlteredExpression disease BEFREE In this study, we show that the ER stress inducers tunicamycin and thapsigargin lead to the activation of PKD1 in human prostate cancer PC-3 cells and in hepatoma HepG2 cells through a PKCδ-dependent mechanism. 31167779 2019
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.010 AlteredExpression group BEFREE In this study, we show that the ER stress inducers tunicamycin and thapsigargin lead to the activation of PKD1 in human prostate cancer PC-3 cells and in hepatoma HepG2 cells through a PKCδ-dependent mechanism. 31167779 2019
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia
0.010 Biomarker phenotype BEFREE PKD and Gβγ inhibitors also attenuated protease-evoked mechanical allodynia in mice. 31142616 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Taken together, this study explained the molecular basis of PKD1 specific inhibition, which may help to design new selective inhibitors for better therapies to overcome cancer and PKD1 dysregulated disorders. 31131745 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Taken together, this study explained the molecular basis of PKD1 specific inhibition, which may help to design new selective inhibitors for better therapies to overcome cancer and PKD1 dysregulated disorders. 31131745 2019
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
0.090 GeneticVariation disease BEFREE p53 mutation regulates PKD genes and results in co-occurrence of PKD and tumorigenesis. 31119048 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 GeneticVariation phenotype BEFREE p53 mutation regulates PKD genes and results in co-occurrence of PKD and tumorigenesis. 31119048 2019
Polycystic Kidney, Autosomal Dominant
0.100 GeneticVariation disease BEFREE The 16 novel PKD gene mutation sites and two novel PKD2 gene mutation sites discovered in this study have some significance in genetic counseling for ADPKD patients, and increase the number of studied families and expand the mutation database of ADPKD. 31056860 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Protein kinase D1 (PKD1) plays a vital role in signal transduction, cell proliferation, membrane trafficking, and cancer; however, the majority of the studies up to date had centered primarily on PKD1 functions in interphase, very little is known about its role during cell division. 30997696 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE Protein kinase D1 (PKD1) plays a vital role in signal transduction, cell proliferation, membrane trafficking, and cancer; however, the majority of the studies up to date had centered primarily on PKD1 functions in interphase, very little is known about its role during cell division. 30997696 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Protein Kinase D1 (PrKD1) functions as a tumor and metastasis suppressor in several human cancers by influencing cell-cycle progression. 30958903 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.080 Biomarker phenotype BEFREE Protein Kinase D1 (PrKD1) functions as a tumor and metastasis suppressor in several human cancers by influencing cell-cycle progression. 30958903 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE Protein kinase D1 (PKD1) protects cells from oxidative stress, and its abnormal activity serves an important role in multiple malignancies. 30896865 2019