FERMT2, fermitin family member 2, 10979

N. diseases: 80; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Taken together, this study has prioritized 15 genes as being involved in contributing to Aβ accumulation, phosphorylation of tau and/or cytokine secretion, and, as illustrated with FERMT2, it sets the stage for further cell-type-specific dissection of the role of these genes in AD. 30371777 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE The increased proteome depth afforded by our TMT pipeline allowed us to identify and quantify a large number of alternatively spliced protein isoforms in brain, including AD risk factors such as BIN1, PICALM, PTK2B, and FERMT2. 30286791 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE A number of genetic variants have previously been identified and associated with the risk of Alzheimer's disease (AD), including rs10838725 in CELF1, rs28834970 in PTK2B, rs17125944 in FERMT2, and rs10410544 in SIRT2 based on genome-wide association studies. 30144538 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Taken as a whole, our data suggest that FERMT2 modulates the AD risk by regulating APP metabolism and Aβ peptide production. 27933404 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Analyses of known AD risk loci suggest CLU and FERMT2 may influence CSF Aβ<sub>42</sub> (P = 0.001 and P = 0.009, respectively) and the INPP5D locus may affect ptau<sub>181</sub> levels (P = 0.009); larger studies are necessary to verify these results. 28247064 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes. 28199971 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 AlteredExpression disease BEFREE When considered in conjunction with the findings of previous association studies, our results suggest that decreased expression of FERMT2 might be a risk factor in the etiopathology of AD, whereas increased expression of NUP160 might protect against the disease. 27215977 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 Biomarker disease BEFREE Single nucleotide polymorphisms (SNPs) in and near ABCA7, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, complement receptor 1 (CR1), EPHA1, EXOC3L2, FERMT2, HLA cluster (DRB5-DQA), INPP5D, MEF2C, MS4A cluster (MS4A3-MS4A6E), NME8, PICALM, PTK2B, SLC24A4, SORL1, and ZCWPW1 have been associated with Alzheimer's disease (AD) in large meta-analyses. 27005436 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE FERMT2 rs17125944 polymorphism with Alzheimer's disease risk: a replication and meta-analysis. 27244899 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease BEFREE Importantly, we also identify the fly orthologs of FERMT2 and CELF1 as Tau modifiers, and these loci have been independently validated as AD susceptibility loci in the latest GWAS meta-analysis. 24067533 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease GWASDB Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.200 GeneticVariation disease GWASCAT Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013