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: 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: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 29186694 2017
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: 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: 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: 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: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. 20418888 2010
CUI: C0202071
Disease: Homovanillic acid measurement
Homovanillic acid measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. 23319000 2014
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
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
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: C0684328
Disease: Reasoning
Reasoning 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). 27046643 2016
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.100 GeneticVariation group GWASCAT 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
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASDB Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. 20418888 2010
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
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: 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