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: C4479250
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 		0.700 CausalMutation disease CLINVAR
CUI: C4479250
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 		0.700 Biomarker disease CTD_human
CUI: C4479250
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C4479250
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 		0.700 GeneticVariation disease UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.510 GeneticVariation disease UNIPROT
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.510 AlteredExpression disease BEFREE Suppression of PKD using the small molecule inhibitors CRT0066101 and kb-NB142-70 resulted in low micromolar in vitro antiproliferative activity against multiple human colorectal cancer cell lines. 24634417 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.510 Biomarker disease CTD_human Genomic and epigenomic integration identifies a prognostic signature in colon cancer. 21278247 2011
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.310 Biomarker disease BEFREE In conclusion, our study suggests, for the first time, that while cPKCs don't embody a pertinent therapeutic target, inhibition of PKD1 represents a novel attractive approach for the treatment of metastatic melanoma. 28056869 2017
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: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform 		0.300 Biomarker disease CTD_human Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 25240283 2014
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell 		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: C0220636
Disease: Malignant neoplasm of salivary gland
Malignant neoplasm of salivary gland 		0.300 Biomarker disease CTD_human Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. 25240283 2014
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: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Biological insights from 108 schizophrenia-associated genetic loci. 25056061 2014
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: 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO