PER3, period circadian regulator 3, 8863

N. diseases: 122; N. variants: 19
Disease: Advanced sleep phase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854739
Disease: Advanced sleep phase
Advanced sleep phase 		0.010 GeneticVariation phenotype BEFREE We identified two rare variants in the circadian clock gene PERIOD3 (PER3-P415A/H417R) in humans with familial advanced sleep phase accompanied by higher Beck Depression Inventory and seasonality scores. hPER3-P415A/H417R transgenic mice showed an altered circadian period under constant light and exhibited phase shifts of the sleep-wake cycle in a short light period (photoperiod) paradigm. 26903630 2016