PTCHD1, patched domain containing 1, 139411

N. diseases: 62; N. variants: 8
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 AlteredExpression phenotype BEFREE We find that Ptchd1 deficiency in male mice (Ptchd1<sup>-/y</sup>) induces global changes in synaptic gene expression, affects the expression of the immediate-early expression genes Egr1 and Npas4 and finally impairs excitatory synaptic structure and neuronal excitatory activity in the hippocampus, leading to cognitive dysfunction, motor disabilities and hyperactivity. 28416808 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 GeneticVariation phenotype BEFREE TRN-restricted deletion of Ptchd1 leads to attention deficits and hyperactivity, both of which are rescued by pharmacological augmentation of SK channel activity. 27007844 2016