PDE10A, phosphodiesterase 10A, 10846

N. diseases: 6; N. variants: 25
Disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 		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: rs1554258695
rs1554258695
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
CUI: C4310792
Disease:
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 		C 0.700 GeneticVariation CLINVAR