PDE10A, phosphodiesterase 10A, 10846

N. diseases: 97; N. variants: 26
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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