PER2, period circadian regulator 2, 8864

N. diseases: 238; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.800 GeneticVariation disease UNIPROT An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.800 Biomarker disease GENOMICS_ENGLAND An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.800 Biomarker disease MGD
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.800 CausalMutation disease CLINVAR
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GeneticVariation disease BEFREE An S662G mutation in hPER2 has been linked to familial advanced sleep-phase syndrome (FASPS). 24857656 2014
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 PosttranslationalModification disease BEFREE Importantly, we found that the pool of Ser-662-phosphorylated PER2 proteins was more stable than the pool of total PER2 molecules, implying that the FASPS phosphorylation cluster antagonizes PER2 degradation. 21324900 2011
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GeneticVariation disease BEFREE The PERIOD2 (Per2) gene has been reported to be associated with familial advanced sleep phase syndrome. 21814225 2011
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GeneticVariation disease BEFREE (2007) characterize mice expressing a human Per2 mutation identified in patients with familial advanced sleep phase syndrome. 17218251 2007
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 PosttranslationalModification disease BEFREE Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). 16983144 2006
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GeneticVariation disease BEFREE This culminated in the identification of the molecular basis of one autosomal dominant form of familial advanced sleep phase syndrome: mutations in the human period 2 gene. 15289749 2004
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GeneticVariation disease BEFREE The search for more familial advanced sleep phase syndrome cases and for loci other than hPer2 are necessary to further examine the roles of circadian-related genes in genetically determined human circadian rhythm disorders. 12841366 2003
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GeneticVariation disease BEFREE Recent studies have shown that mutations in hPER2 are associated with autosomal-dominant familial advanced-sleep-phase syndrome. 12849457 2002
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GermlineCausalMutation disease ORPHANET An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 GeneticVariation disease BEFREE An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		0.590 Biomarker disease CTD_human
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 AlteredExpression disease BEFREE Questionnaires about quality of life (EuroQoL EQ-5D-5 L, the European Organization For Research And Treatment Of Cancer Core Quality Of Life Questionnaire EORTC QLQ-C30 join to the specific breast cancer module (QLQ-BR23), as well as Hospital Anxiety and Depression Scale were completed by the patients before the beginning of the initial treatment and at the end of follow-up period, 2 years later. 29310641 2018
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 Biomarker disease PSYGENET Recent findings concerning the statistical laws of behavioral organization shared between healthy humans and wild-type mice (WT) and their alterations in human depression patients and circadian clock gene (Period 2; Per2) mutant mice indicate that clock genes play functional roles in intermittent, ultradian locomotor dynamics. 23516567 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 GeneticVariation disease BEFREE In a cohort of 361 Caucasians, the severity of depression was assessed prospectively during pregnancy (third trimester) and the postpartum period (2-3 days and 6-8 months) using the Edinburgh Postnatal Depression Scale (EPDS). 22721547 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 GeneticVariation disease BEFREE In a non-psychiatric cohort of 419 Caucasians, the severity of depression was assessed prospectively during pregnancy (3rd trimester) and the postpartum period (2-3 days and 6-8 months) using the Edinburgh Postnatal Depression Scale. 22209125 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 Biomarker disease PSYGENET Per1, Per2) represent key regulators of circadian rhythmicity, and their targeted disruption in mutant mice produces potentiated reward drive, novelty-seeking, impulsivity, disrupted sleep, reduced depression and anxiety - a behavioral profile highly reminiscent of our selectively bred high responder (bHR) rats compared to bred low responders (bLRs). 21775066 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 Biomarker disease PSYGENET In a non-psychiatric cohort of 419 Caucasians, the severity of depression was assessed prospectively during pregnancy (3rd trimester) and the postpartum period (2-3 days and 6-8 months) using the Edinburgh Postnatal Depression Scale. 22209125 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 Biomarker disease PSYGENET In a cohort of 361 Caucasians, the severity of depression was assessed prospectively during pregnancy (third trimester) and the postpartum period (2-3 days and 6-8 months) using the Edinburgh Postnatal Depression Scale (EPDS). 22721547 2012
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 Biomarker disease PSYGENET Candidate genes, such as those encoding for the brain-derived neurotrophic factor (BDNF), serotonin transporter (5-HTT), and Period2 (PER2), have been associated with depression and seasonal disorders. 21997575 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 Biomarker disease BEFREE Candidate genes, such as those encoding for the brain-derived neurotrophic factor (BDNF), serotonin transporter (5-HTT), and Period2 (PER2), have been associated with depression and seasonal disorders. 21997575 2011
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.450 GeneticVariation disease BEFREE In conclusion, genetic variation in PER2 is associated with depression vulnerability a Swedish population-based sample. 19693801 2010