Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperactive behavior
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