PDE1C, phosphodiesterase 1C, 5137

N. diseases: 41; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2270221
rs2270221
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0014175
Disease:
Endometriosis 		A 0.800 GeneticVariation GWASDB Genome-wide association study link novel loci to endometriosis. 23472165 2013
dbSNP: rs2270221
rs2270221
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0014175
Disease:
Endometriosis 		A 0.800 GeneticVariation GWASCAT Genome-wide association study link novel loci to endometriosis. 23472165 2013
dbSNP: rs10236197
rs10236197
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs10236197
rs10236197
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals. 29520040 2019
dbSNP: rs215607
rs215607
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs215614
rs215614
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs215634
rs215634
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs34173
rs34173
Entrez Id: 5137;10842
Gene Symbol: PDE1C;PPP1R17
PDE1C;PPP1R17
CUI: C0201899
Disease:
Aspartate aminotransferase measurement 		0.700 GeneticVariation GWASCAT Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers. 30589442 2019
dbSNP: rs9648380
rs9648380
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs12701204
rs12701204
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation 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
dbSNP: rs12701204
rs12701204
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation 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
dbSNP: rs215607
rs215607
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1305855
Disease:
Body mass index 		G 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs775633137
rs775633137
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C4748334
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 74 		0.700 GeneticVariation UNIPROT A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. 29860631 2018
dbSNP: rs7798739
rs7798739
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs10236197
rs10236197
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0021704
Disease:
Intelligence 		T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence. 28530673 2017
dbSNP: rs215600
rs215600
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 29186694 2017
dbSNP: rs7779181
rs7779181
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1305855
Disease:
Body mass index 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs9771228
rs9771228
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 29186694 2017
dbSNP: rs9771228
rs9771228
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0684328
Disease:
Reasoning 		0.700 GeneticVariation GWASCAT Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). 27046643 2016
dbSNP: rs17161076
rs17161076
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation 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
dbSNP: rs4141001
rs4141001
Entrez Id: 5137;223075
Gene Symbol: PDE1C;ITPRID1
PDE1C;ITPRID1
CUI: C0033860
Disease:
Psoriasis 		0.700 GeneticVariation GWASCAT Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. 25854761 2015
dbSNP: rs62458065
rs62458065
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0202071
Disease:
Homovanillic acid measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. 23319000 2014
dbSNP: rs10237735
rs10237735
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C1281901
Disease:
Fatty acid measurement 		T 0.700 GeneticVariation 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
dbSNP: rs10237735
rs10237735
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0202177
Disease:
Phospholipid measurement 		T 0.700 GeneticVariation 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
dbSNP: rs10239506
rs10239506
Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C0003868
Disease:
Arthritis, Gouty 		0.700 GeneticVariation GWASCAT Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. 22179738 2012