PDE10A, phosphodiesterase 10A, 10846

N. diseases: 97; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310791
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.700 GeneticVariation disease UNIPROT De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. 27058447 2016
CUI: C4310791
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.700 GermlineCausalMutation disease ORPHANET Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 27058446 2016
CUI: C4310791
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 27058446 2016
CUI: C4310791
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.700 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. 27058447 2016
CUI: C4310791
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.700 GermlineCausalMutation disease ORPHANET De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. 27058447 2016
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 27058446 2016
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 Biomarker disease GENOMICS_ENGLAND De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. 27058447 2016
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 27058446 2016
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 GeneticVariation disease UNIPROT Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 27058446 2016
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 GermlineCausalMutation disease ORPHANET Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. 27058446 2016
CUI: C4310791
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.700 Biomarker disease CTD_human
CUI: C4310791
Disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 		0.700 CausalMutation disease CLINVAR
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 Biomarker disease CTD_human
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 CausalMutation disease CLINVAR
CUI: C4310792
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		0.700 GeneticVariation disease CLINVAR
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 GeneticVariation disease BEFREE Dysregulation of cAMP signaling has been proposed as a cause of bipolar disorder and PDE10A inhibitors have been investigated as potential therapeutics for schizophrenia. 28042091 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 AlteredExpression disease BEFREE Novel, primate-specific PDE10A isoform highlights gene expression complexity in human striatum with implications on the molecular pathology of bipolar disorder. 26905414 2016
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 GeneticVariation disease 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 GeneticVariation disease 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
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 Biomarker disease PSYGENET 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
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.350 Biomarker group BEFREE Preclinical testing suggests that phosphodiesterase 10A (PDE10A) inhibitors may provide a novel approach to treating psychosis associated with schizophrenia. 31688451 2020
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.350 Biomarker disease BEFREE Preclinical testing suggests that phosphodiesterase 10A (PDE10A) inhibitors may provide a novel approach to treating psychosis associated with schizophrenia. 31688451 2020
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.350 Biomarker group BEFREE The last decade of research has seen a clear role emerge for PDE10A inhibition in modifying behaviours in animal models of psychosis and Huntington's disease. 30951862 2019
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.350 Biomarker disease BEFREE The last decade of research has seen a clear role emerge for PDE10A inhibition in modifying behaviours in animal models of psychosis and Huntington's disease. 30951862 2019
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.350 Biomarker group BEFREE Similar to current antipsychotics with dopamine D<sub>2</sub> receptor antagonism or partial agonism, phosphodiesterase 10A (PDE10A) inhibitors activate indirect pathway MSNs, leading to the expectation of therapeutic potential for the treatment of psychosis. 29318783 2018