SORL1, sortilin related receptor 1, 6653

N. diseases: 103; N. variants: 29
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
0.500 GeneticVariation disease BEFREE Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease. 31217084 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Hereby we review the evidence of the association of SORL1 common and rare variants with AD risk and conduct a meta-analysis of published data on SORL1 rare variants in five large sequencing studies. 30911827 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1. 30636737 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE SorLA has recently attracted much attention as a novel strong risk gene for Alzheimer's disease, and much effort is currently being put into understanding the underlying molecular mechanism. 30679749 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. 31473137 2019
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 We aimed to investigate the association between polymorphisms in several cholesterol-related genes [APOA5 (rs662799), APOC1 (rs11568822), APOD (rs1568565), CH25H (rs13500), LDLR (rs5930), SORL1 (rs2282649)] and AD in a cohort of Turkish patients. 30684189 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE SORL1 processes a causal involvement in Alzheimer's disease (AD) as a proposed modulator of the amyloid precursor protein (APP). 31092209 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Association between SORL1 polymorphisms and the risk of Alzheimer's disease. 29036834 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Our results show the first association of the AD risk factor SORL1 with incident dementia in PD, providing new evidence that AD related disease mechanisms may contribute to dementia in a subset of patients with PD. 29567423 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Derivation of induced pluripotent stem cells TUSMi006 from an 87-year old Chinese Han Alzheimer's disease patient carrying GRINB and SORL1 mutations. 30077089 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Several single nucleotide polymorphisms of the gene SORL1, encoding sorLA, are genetically associated with Alzheimer's disease (AD). 30078640 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease BEFREE Decreased SorLA levels have been correlated to Alzheimer's disease, and omega-3 fatty acid supplementation is known to increase SorLA expression in neuronal cell lines and mouse models. 29660442 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's disease (AD) physiopathology. 29376855 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Results from lipid metabolism arrays validated upregulation of several processes implicated in the biogenesis of β-amyloid and Alzheimer's disease (AD), including sterol o-acyltransferase 1/acetyl-coenzyme A acyltransferase 1 (SOAT1/ACAT1), sortilin-related receptor L1 (SORL1) and low-density lipoprotein receptor-related protein 12 (LRP12). 30390000 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE More common SORL1 variants (ExAC-MAF≥1 × 10<sup>-5</sup>) were not associated with increased AD risk, even when predicted strongly damaging. 28537274 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Sex-specific characterization and evaluation of the Alzheimer's disease genetic risk factor sorl1 in zebrafish during aging and in the adult brain following a 100 ppb embryonic lead exposure. 27535807 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE The sorting-related receptor gene (SORL1) has been defined as an interesting candidate gene for Alzheimer's disease (AD). 26873856 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE We found one SORL1 RNA transcript strongly regulated by SORL1-BDNF interactions in elderly without pathological AD and showing stronger associations with diffuse than neuritic Aβ plaques. 28322202 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Sortilin-related receptor with LDLR class A repeats (SORLA, SORL1, or LR11) is a genetic risk factor associated with Alzheimer's disease (AD). 29114064 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE The finding of three SORL1-variants that segregate with disease in three separate families with EOAD supports the involvement of SORL1 in AD pathology. 28595629 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity. 27911290 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE These results indicate that 6-shogaol should be regarded as an SORL1 activator and a potential preventive agent for the treatment of AD. 28188785 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Altogether, five loci (rs6656401 at CR1, rs983392within MS4A6A, rs11218343 at SORL1, rs6733839 at BIN1, and APOE ε4) have been detected to be associated with one or a few established AD-related neuroimaging measures. 26732597 2017