|
Alzheimer Disease, Late Onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Additionally, nominally significant linkage was observed with RVs in ABCA7, ACE, EPHA1, and SORL1, genes that were previously reported to be associated with LOAD.
|
31585107 |
2019 |
|
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 |
|
Alzheimer Disease, Early Onset
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD).
|
31381512 |
2019 |
|
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 |
|
Malignant neoplasm of urinary bladder
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
SORLA protein levels in cancer cell lines and bladder cancers correlates with HER2 levels.
|
31138794 |
2019 |
|
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
SORLA protein levels in cancer cell lines and bladder cancers correlates with HER2 levels.
|
31138794 |
2019 |
|
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
SORLA protein levels in cancer cell lines and bladder cancers correlates with HER2 levels.
|
31138794 |
2019 |
|
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 |
|
Cerebral Amyloid Angiopathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Cerebral amyloid angiopathy-related inflammation: a case report presenting with a rare variant in SORL1 gene.
|
31092209 |
2019 |
|
Mild cognitive disorder
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated the association of genetic polymorphisms of five genes (8-oxoguanine DNA glycosylase 1 (OGG1), bridging integrator 1 (BIN1), sortilin-related receptor 1 (SORL1), presenilin 2 (PSEN2) and nerve growth factor (NGF)) with MCI risk in a Xinjiang Uygur population.
|
30983028 |
2019 |
|
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 |
|
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 |
|
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 |
|
Neurodegenerative Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
The identification of the relatively unknown HSPA12A as a SorLA specific interaction partner could lead to novel insight into the molecular mechanism of SorLA, and re-emphasises the role of heat shock proteins in neurodegenerative diseases.
|
30679749 |
2019 |
|
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 |
|
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 |
|
Carotid Stenosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Levels of circulating soluble LR11, a regulator of smooth muscle cell migration, are highly associated with atherosclerotic plaques in patients with carotid artery stenosis.
|
30550937 |
2019 |
|
Mild cognitive disorder
|
0.380 |
Biomarker
|
disease |
CTD_human |
To evaluate cognitive performance and presence of polymorphisms of the genes SORL1(rs11218304), PVRL2(rs6859), CR1(rs6656401), TOMM40(rs2075650), APOE (isoforms ɛ2, ɛ3, ɛ4), PICALM(rs3851179), GWAS_14q(rs11622883), BIN1(rs744373), and CLU (rs227959 and rs11136000) in patients with MCI and healthy individuals.
|
30503753 |
2018 |
|
Impaired cognition
|
0.330 |
Biomarker
|
disease |
CTD_human |
Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls.
|
30503753 |
2018 |
|
Mental deterioration
|
0.310 |
Biomarker
|
phenotype |
CTD_human |
Analysis of cognitive performance and polymorphisms of SORL1, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU, and BIN1 in patients with mild cognitive impairment and cognitively healthy controls.
|
30503753 |
2018 |
|
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 |
|
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 |
|
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 |
|
Atrial Fibrillation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
|
Paroxysmal atrial fibrillation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |