PER2, period circadian regulator 2, 8864

N. diseases: 238; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908635
rs121908635
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C3807327
Disease:
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
0.700 GeneticVariation UNIPROT An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
dbSNP: rs1559332542
rs1559332542
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C3807327
Disease:
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs35333999
rs35333999
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0008810
Disease:
Circadian Rhythms
T 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. 26955885 2016
dbSNP: rs74508725
rs74508725
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10462023
rs10462023
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0033975
Disease:
Psychotic Disorders
0.010 GeneticVariation BEFREE The rs2290036-C variant of ARNTL was over-represented in psychosis patients, and the variants rs934945-G and rs10462023-G of PER2 were associated with a more severe psychotic disorder. 25799324 2015
dbSNP: rs121908635
rs121908635
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C1858496
Disease:
Advanced Sleep-Phase Syndrome, Familial
0.010 GeneticVariation BEFREE An S662G mutation in hPER2 has been linked to familial advanced sleep-phase syndrome (FASPS). 24857656 2014
dbSNP: rs1376122529
rs1376122529
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0270853
Disease:
Juvenile Myoclonic Epilepsy
0.010 GeneticVariation BEFREE Accordingly, we investigated whether functional clock gene polymorphisms (PER2 111C>G, CLOCK 3111T>C, and PER3 VNTR) might influence the risk for JME. 24892753 2014
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0034067
Disease:
Pulmonary Emphysema
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0519066
Disease:
Acute Q fever
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs181985043
rs181985043
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE This analysis yielded 53 candidate SNP markers, such as rs181985043 (susceptibility to acute Q fever in male patients), rs192518038 (higher risk of a heart attack in patients with diabetes), and rs374778785 (emphysema and lung cancer in smokers). 27635400 2016
dbSNP: rs184017310
rs184017310
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0268490
Disease:
Tyrosinemia, Type I
0.010 GeneticVariation BEFREE Due to a genetic founder effect in the French-Canadian population, the prevalence of HTI is increased in the province of Quebec (1/19 819), with the IVS12 + 5G>A (1062 + 5G>A) splice site mutation responsible for more than 90% of mutated alleles. 28755192 2017
dbSNP: rs2304672
rs2304672
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Results indicate that PER2 polymorphisms rs2304672C>G and rs4663302C>T were associated with abdominal obesity (P<0.05). 20497782 2010
dbSNP: rs2304672
rs2304672
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE In summary, the rs2304672 polymorphism in the PER2 gene locus may influence lipid metabolism by interacting with the plasma total SFA concentration in participants with MetS. 22623394 2012
dbSNP: rs2304674
rs2304674
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE The rs2304674 SNP demonstrated a significant association with susceptibility to RA following Bonferroni correction. 28498398 2017
dbSNP: rs56013859
rs56013859
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.010 GeneticVariation BEFREE Concerning alcohol use, the current findings give support, but are preliminary to, the associations of ARNTL (BMAL1) rs6486120 with alcohol consumption, ARNTL2 rs7958822 and ARNTL2 rs4964057 with alcohol abuse, and PER1 rs3027172 and PER2 rs56013859 with alcohol dependence. 25677407 2015
dbSNP: rs56013859
rs56013859
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0001956
Disease:
Alcohol Use Disorder
0.010 GeneticVariation BEFREE At age 19 years, 268 young adults (126 males, 142 females) were genotyped for PER2 rs56013859 and were administered a 45-day alcohol timeline follow-back interview and the Alcohol Use Disorders Identification Test (AUDIT). 23533602 2013
dbSNP: rs6754875
rs6754875
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE In order to identify the association between genetic polymorphisms in the circadian clock gene period 2 (PER2) and RA, the present study genotyped three PER2 single nucleotide polymorphisms (SNPs), rs934945, rs6754875, and rs2304674, using genetic information from 256 RA patients and 499 control subjects. 28498398 2017
dbSNP: rs754745652
rs754745652
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C1858496
Disease:
Advanced Sleep-Phase Syndrome, Familial
0.010 GeneticVariation BEFREE We report here the identification of a missense mutation (T44A) in the human CKIdelta gene, which results in FASPS. 15800623 2005
dbSNP: rs76355956
rs76355956
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C0393770
Disease:
Delayed Sleep Phase Syndrome
0.010 GeneticVariation BEFREE The p.Val1205Met substitution could be a potential genetic marker for DSWPD. 31527662 2019
dbSNP: rs934945
rs934945
Entrez Id: 8864
Gene Symbol: PER2
PER2
CUI: C1261473
Disease:
Sarcoma
0.010 GeneticVariation BEFREE The present analysis suggested that carriers of the minor allele of the CLOCK polymorphism rs1801260 (C) or of PER2 rs934945 (T) had a reduced predisposition to sarcoma (26% and 35% respectively with the additive model) and liposarcoma (33% and 41% respectively). 30518396 2018