Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
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
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
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
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
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
Advanced Sleep-Phase Syndrome, Familial
0.590 GermlineCausalMutation disease ORPHANET An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
Advanced Sleep-Phase Syndrome, Familial
0.590 GeneticVariation disease BEFREE An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 11232563 2001
Advanced Sleep-Phase Syndrome, Familial
0.590 Biomarker disease CTD_human