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
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
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: C0743101
Disease: developmentally delayed
developmentally delayed 		0.010 Biomarker phenotype BEFREE A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy. 23664928 2013
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
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: 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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 Biomarker phenotype 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: 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: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals. 29520040 2019
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: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
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
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0029231
Disease: Organic Mental Disorders, Substance-Induced
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: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		0.300 Biomarker group 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: C1510472
Disease: Drug Dependence
Drug Dependence 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence. 28530673 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. 23362303 2013