Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Association of CLU and PICALM variants with Alzheimer's disease. 20570404 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT A novel Alzheimer disease locus located near the gene encoding tau protein. 25778476 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease BEFREE Moreover, reduction of CALM decreases Aβ deposition as well as brain levels of insoluble Aβ42 in vivo These results suggest that CALM expression modifies AD risk by regulating Aβ pathology. 27466196 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Recently, genome-wide association studies have identified 3 new susceptibility loci for Alzheimer's disease (AD), CLU, CR1, and PICALM. 21391232 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE PICALM, the gene encoding phosphatidylinositol-binding clathrin assembly (picalm) protein, was recently shown to be associated with risk of Alzheimer disease (AD). 20838239 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Here we focus on CALM, a protein containing an ANTH domain, which is implicated in the pathogenesis of blood cancers and Alzheimer disease, and discuss how alteration of CALM function is involved in these diseases. 29774507 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASDB Genome-wide association study of Alzheimer's disease. 22832961 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Several recent genome-wide association studies have reported that several single nucleotide polymorphisms (SNPs) in the phosphatidylinositol clathrin assembly lymphoid-myeloid leukemia (PICALM) gene were significantly associated with Alzheimer disease, suggesting a role in APP endocytosis and Aβ generation. 22539346 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The increase in beta relative power in the carriers of the AD risk PICALM GG genotype suggests changes in the cortical excitatory-inhibitory balance, which are heightened during normal aging. 28073596 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE The association between 5 genetic variants in CLU, CR1, and PICALM and risk for AD, and the correlation between these 5 genetic variants and CSF-Aβ42 and tau levels. 21300948 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE We performed a meta-analysis to explore whether these three polymorphisms in the PICALM gene were associated with susceptibility to AD. 31385771 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Genetic variation in PICALM and Alzheimer's disease risk in Han Chinese. 24095218 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer's disease in a southern Chinese population. 22015308 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Recently, variations in the gene encoding the phosphatidylinositol binding clathrin assembly protein (PICALM) has been associated with Alzheimer's disease (AD), suggesting a possible role of CME in the pathogenesis of neurodegenerative diseases. 22715855 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Identification and confirmation of an exonic splicing enhancer variation in exon 5 of the Alzheimer disease associated PICALM gene. 22943764 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE We detected a significant association of the MTHFR rs1801133 and PICALM rs3851179 polymorphisms with AD. 25359311 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Our meta-analysis thus suggested that the PICALM rs3851179 polymorphism was associated with AD; the APOE ε4 status did not influence the relationship. 30039188 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE To examine whether there is a genetic link for these diseases, we performed a case-control study in Chinese population to evaluate the association of AD genome-wide association studies top hits with both PD and cognitive function in PD, investigating 13 single-nucleotide polymorphisms in 9 genes (BIN1, CLU, ABCA7, CR1, PICALM, MS4A6A, CD33, MS4A4E, and CD2AP). 26724962 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The AD susceptibility genes apolipoprotein E (<i>APOE</i>), phosphatidylinositol binding clathrin assembly protein (<i>PICALM</i>), complement receptor 1 (<i>CR1</i>) and clusterin (<i>CLU</i>) are involved in the HSV lifecycle. 29559905 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Unadjusted, CLU (odds ratio [OR], 0.91; 95% confidence interval [CI], 0.85-0.96 for single-nucleotide polymorphism [SNP] rs11136000), CR1 (OR, 1.14; 95% CI, 1.07-1.22; SNP rs3818361), and PICALM (OR, 0.89; 95% CI, 0.84-0.94, SNP rs3851179) were associated with AD in white individuals. 20697030 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT Genome-wide association study of Alzheimer's disease. 22832961 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE In summary, this updated meta-analysis highlights the involvement of PICALM rs3851179 variant in Alzheimer's disease susceptibility in Chinese population. 27048444 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Lack of association between PICALM rs3851179 polymorphism and Alzheimer's disease in Chinese population and APOEε4-negative subgroup. 23040034 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease BEFREE Additionally, we found that PICALM expression was modestly increased with the rs3851179A AD-protective allele. 24618820 2014