PDE10A, phosphodiesterase 10A, 10846

N. diseases: 97; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1039002
rs1039002
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0005586
Disease:
Bipolar Disorder 		0.800 GeneticVariation GWASCAT Bipolar disorder with psychosis and/or substance abuse in the absence of alcohol dependence was associated with the rare variant rs1039002 in the vicinity of the gene phosphodiesterase 10A (PDE10A) on chromosome 6q27 (p = 1.7×10⁻⁸). 22205951 2011
dbSNP: rs1039002
rs1039002
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0005586
Disease:
Bipolar Disorder 		0.800 GeneticVariation GWASDB Bipolar disorder with psychosis and/or substance abuse in the absence of alcohol dependence was associated with the rare variant rs1039002 in the vicinity of the gene phosphodiesterase 10A (PDE10A) on chromosome 6q27 (p = 1.7×10⁻⁸). 22205951 2011
dbSNP: rs753760
rs753760
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement 		C 0.800 GeneticVariation GWASDB A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
dbSNP: rs753760
rs753760
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement 		C 0.800 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
dbSNP: rs7762160
rs7762160
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0149654
Disease:
Conduct Disorder 		C 0.800 GeneticVariation GWASCAT Genome-wide association study of conduct disorder symptomatology. 20585324 2011
dbSNP: rs7762160
rs7762160
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0149654
Disease:
Conduct Disorder 		0.800 GeneticVariation GWASDB Genome-wide association study of conduct disorder symptomatology. 20585324 2011
dbSNP: rs778899140
rs778899140
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310792
Disease:
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 27058446 2016
dbSNP: rs778899140
rs778899140
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310792
Disease:
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs875989839
rs875989839
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310792
Disease:
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.800 GeneticVariation UNIPROT
dbSNP: rs875989839
rs875989839
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310792
Disease:
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		G 0.800 CausalMutation CLINVAR
dbSNP: rs875989840
rs875989840
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310791
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs875989840
rs875989840
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310791
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs875989841
rs875989841
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310791
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs875989841
rs875989841
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310791
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1079418
rs1079418
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1079418
rs1079418
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
dbSNP: rs147212971
rs147212971
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 28135244 2017
dbSNP: rs1554258695
rs1554258695
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310791
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554258695
rs1554258695
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310792
Disease:
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs221721
rs221721
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2934844
rs2934844
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0005612
Disease:
Birth Weight 		T 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs2934849
rs2934849
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2983511
rs2983511
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement 		G 0.700 GeneticVariation GWASCAT Four loci previously associated with TSH in adults were confirmed in this study population (PDE10A (rs2983511: β = 0.112SD, p = 4.8 ∙ 10-16), FOXE1 (rs7847663: β = 0.223SD, p = 1.5 ∙ 10-20), NR3C2 (rs9968300: β = 0.194SD), p = 2.4 ∙ 10-11), VEGFA (rs2396083: β = 0.088SD, p = 2.2 ∙ 10-10)). 28333968 2017
dbSNP: rs2983514
rs2983514
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0020676
Disease:
Hypothyroidism 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059 2018
dbSNP: rs2983514
rs2983514
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0020550
Disease:
Hyperthyroidism 		A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059 2018