PDE10A, phosphodiesterase 10A, 10846

N. diseases: 97; N. variants: 26
Disease: Hyperkinesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.120 GeneticVariation phenotype BEFREE More recently, a series of families with hyperkinetic movement disorders have been identified with mutations altering the PDE10A protein sequence. 30951862 2019
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.120 GeneticVariation phenotype 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
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.120 Biomarker phenotype HPO