Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8864
Gene Symbol: PER2
PER2 		0.590 GeneticVariation disease BEFREE An S662G mutation in hPER2 has been linked to familial advanced sleep-phase syndrome (FASPS). 24857656 2014
Entrez Id: 8864
Gene Symbol: PER2
PER2 		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
Entrez Id: 8864
Gene Symbol: PER2
PER2 		0.590 GeneticVariation disease BEFREE The PERIOD2 (Per2) gene has been reported to be associated with familial advanced sleep phase syndrome. 21814225 2011
Entrez Id: 8864
Gene Symbol: PER2
PER2 		0.590 GeneticVariation disease BEFREE (2007) characterize mice expressing a human Per2 mutation identified in patients with familial advanced sleep phase syndrome. 17218251 2007
Entrez Id: 8864
Gene Symbol: PER2
PER2 		0.590 PosttranslationalModification disease BEFREE Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome (FASPS). 16983144 2006
Entrez Id: 8864
Gene Symbol: PER2
PER2 		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
Entrez Id: 8864
Gene Symbol: PER2
PER2 		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
Entrez Id: 8864
Gene Symbol: PER2
PER2 		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
Entrez Id: 8864
Gene Symbol: PER2
PER2 		0.590 GermlineCausalMutation disease ORPHANET An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
Entrez Id: 8864
Gene Symbol: PER2
PER2 		0.590 GeneticVariation disease BEFREE An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
Entrez Id: 8864
Gene Symbol: PER2
PER2 		0.590 Biomarker disease CTD_human
Entrez Id: 1453
Gene Symbol: CSNK1D
CSNK1D 		0.510 GermlineCausalMutation disease ORPHANET We report here the identification of a missense mutation (T44A) in the human CKIdelta gene, which results in FASPS. 15800623 2005
Entrez Id: 1453
Gene Symbol: CSNK1D
CSNK1D 		0.510 GeneticVariation disease BEFREE We report here the identification of a missense mutation (T44A) in the human CKIdelta gene, which results in FASPS. 15800623 2005
Entrez Id: 1453
Gene Symbol: CSNK1D
CSNK1D 		0.510 Biomarker disease CTD_human
Entrez Id: 8863
Gene Symbol: PER3
PER3 		0.500 GermlineCausalMutation disease ORPHANET A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait. 26903630 2016
Entrez Id: 8863
Gene Symbol: PER3
PER3 		0.500 Biomarker disease CTD_human
Entrez Id: 149420
Gene Symbol: PDIK1L
PDIK1L 		0.010 PosttranslationalModification disease BEFREE Casein kinase 1-dependent phosphorylation of familial advanced sleep phase syndrome-associated residues controls PERIOD 2 stability. 21324900 2011
Entrez Id: 9575
Gene Symbol: CLOCK
CLOCK 		0.010 GeneticVariation disease BEFREE Genetic analyses of circadian rhythm sleep disorders (CRSD), such as familial advanced sleep phase syndrome (ASPS) and delayed sleep phase syndrome (DSPS), and morningness-eveningness revealed the relationship between variations in clock genes and diurnal change in human behaviors. 17299246 2007