PDE1C, phosphodiesterase 1C, 5137

N. diseases: 41; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Organic Mental Disorders, Substance-Induced
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C4748334
Disease: DEAFNESS, AUTOSOMAL DOMINANT 74
DEAFNESS, AUTOSOMAL DOMINANT 74
0.300 GeneticVariation disease UNIPROT A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. 29860631 2018
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.100 GeneticVariation disease GWASCAT Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. 22179738 2012
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.100 GeneticVariation disease GWASDB Genome-wide association study link novel loci to endometriosis. 23472165 2013
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.100 GeneticVariation disease GWASCAT Genome-wide association study link novel loci to endometriosis. 23472165 2013
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASCAT Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. 22179738 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.100 GeneticVariation disease GWASDB Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. 22763110 2012
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 AlteredExpression disease BEFREE In this study, we demonstrate that phosphodiesterase 1C is expressed in the human glioblastoma cell line A172 with regard to mRNA, protein and activity level, and that lower activities of phosphodiesterase 2, phosphodiesterase 3, phosphodiesterase 4 and phosphodiesterase 5 are also present. 17697115 2007
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 Biomarker disease BEFREE Cyclic nucleotide phosphodiesterase-1C (PDE1C) drives cell proliferation, migration and invasion in glioblastoma multiforme cells in vitro. 25620587 2016
CUI: C0025202
Disease: melanoma
melanoma
0.020 AlteredExpression disease BEFREE PDE1C mRNA is expressed and may play an important role in human malignant melanoma MAA cells. 19414353 2009
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation disease BEFREE The SNPs rs215605 in the PDE1C gene and rs6265 in the BDNF gene significantly interacted with smoking status on melanoma risk (interaction P = 0.005 and P = 0.003 respectively). 27344179 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.020 AlteredExpression disease BEFREE In this study, we demonstrate that phosphodiesterase 1C is expressed in the human glioblastoma cell line A172 with regard to mRNA, protein and activity level, and that lower activities of phosphodiesterase 2, phosphodiesterase 3, phosphodiesterase 4 and phosphodiesterase 5 are also present. 17697115 2007
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.020 AlteredExpression disease BEFREE Up-regulation of at least one of this gene set (IL8, CXCL2, FOSB, NFE2L3, SUB1, SORBS2, WNT5A, and MMP1) in TCGA GBM cohorts is associated with worse outcome and PDE1C silencing down-regulated their expression, thus also indicating potential to influence patient survival. 25620587 2016
CUI: C0018801
Disease: Heart failure
Heart failure
0.010 GeneticVariation disease BEFREE PDE1 inhibition by ITI-214 in vivo confers acute inotropic, lusitropic, and arterial vasodilatory effects in PDE1C-expressing mammals with and without HF. 30030415 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 GeneticVariation disease BEFREE PDE1 inhibition by ITI-214 in vivo confers acute inotropic, lusitropic, and arterial vasodilatory effects in PDE1C-expressing mammals with and without HF. 30030415 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 AlteredExpression disease BEFREE In this study, we demonstrate that phosphodiesterase 1C is expressed in the human glioblastoma cell line A172 with regard to mRNA, protein and activity level, and that lower activities of phosphodiesterase 2, phosphodiesterase 3, phosphodiesterase 4 and phosphodiesterase 5 are also present. 17697115 2007
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 AlteredExpression disease BEFREE In this study, we demonstrate that phosphodiesterase 1C is expressed in the human glioblastoma cell line A172 with regard to mRNA, protein and activity level, and that lower activities of phosphodiesterase 2, phosphodiesterase 3, phosphodiesterase 4 and phosphodiesterase 5 are also present. 17697115 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 Biomarker disease BEFREE Although neuronal migration disorder was not seen in our patient, this is the first patient described with haploinsufficiency of PDE1C possibly causing developmental delay. 23664928 2013
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 Biomarker disease BEFREE There was unique up-regulation of AC5 in adult DCM with PDE3i (fold change 2.415; P = .043), AC2 in pediatric DCM (fold change 2.396; P = .0067), and PDE1C in pediatric SRV (fold change 1.836; P = .032). 27427220 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.010 GeneticVariation disease BEFREE A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. 29860631 2018
CUI: C0013170
Disease: Drug habituation
Drug habituation
0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010