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: rs9457107
rs9457107
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0005612
Disease:
Birth Weight 		C 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs903432
rs903432
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs903432
rs903432
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
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: 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: 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: rs875989839
rs875989839
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C3887506
Disease:
Hyperkinesia 		0.010 GeneticVariation BEFREE Here, we report on germline PDE10A mutations in eight individuals from two families affected by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C (p.Ala116Pro). 27058446 2016
dbSNP: rs875989839
rs875989839
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0424295
Disease:
Hyperactive behavior 		0.010 GeneticVariation BEFREE Here, we report on germline PDE10A mutations in eight individuals from two families affected by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C (p.Ala116Pro). 27058446 2016
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: rs778899140
rs778899140
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C1858120
Disease:
Generalized hypotonia 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs778899140
rs778899140
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0557874
Disease:
Global developmental delay 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs778899140
rs778899140
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C3887506
Disease:
Hyperkinesia 		0.010 GeneticVariation BEFREE Here, we report on germline PDE10A mutations in eight individuals from two families affected by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C (p.Ala116Pro). 27058446 2016
dbSNP: rs778899140
rs778899140
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0424295
Disease:
Hyperactive behavior 		0.010 GeneticVariation BEFREE Here, we report on germline PDE10A mutations in eight individuals from two families affected by a hyperkinetic movement disorder due to homozygous mutations c.320A>G (p.Tyr107Cys) and c.346G>C (p.Ala116Pro). 27058446 2016
dbSNP: rs7768382
rs7768382
Entrez Id: 10846;90632
Gene Symbol: PDE10A;LINC00473
PDE10A;LINC00473
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: rs7744143
rs7744143
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs7744143
rs7744143
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0001948
Disease:
Alcohol consumption 		A 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
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: rs753760
rs753760
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C0441683
Disease:
Hormone measurement 		C 0.700 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013