Abnormal social behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Abnormality of vision
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Acute leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
LR11 and its released soluble form are strongly elevated in acute leukemias.
|
22750733 |
2012 |
Acute lymphocytic leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
LR11 is specifically expressed in monocytes, and surface levels on leukemic cells are highly induced in both AML and ALL. sLR11 levels of acute leukemia patients were significantly increased (P<0.001) (ALL, 73.5±93.5 ng/ml; AML, 26.8±29.1 ng/ml) in comparison to controls (9.2±3.3 ng/ml).
|
22750733 |
2012 |
Adult Acute Lymphocytic Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
LR11 is specifically expressed in monocytes, and surface levels on leukemic cells are highly induced in both AML and ALL. sLR11 levels of acute leukemia patients were significantly increased (P<0.001) (ALL, 73.5±93.5 ng/ml; AML, 26.8±29.1 ng/ml) in comparison to controls (9.2±3.3 ng/ml).
|
22750733 |
2012 |
Age-related cognitive decline
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The SORL1 gene rs1699102 polymorphism has been found to be associated with age-related cognitive decline and GMV reduction of the right middle temporal pole in older adults.
|
27779372 |
2017 |
Agitation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Agitation, CTCAE 3.0
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Agitation, CTCAE 5.0
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Alzheimer Disease, Early Onset
|
0.080 |
Biomarker
|
disease |
BEFREE |
Our results confirm the association of SORL1 with AD and show a possible effect of female sex, suggesting that this gene may be a promising susceptibility factor for LOAD.
|
19822782 |
2009 |
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 Disease, Early Onset
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
|
27026413 |
2016 |
Alzheimer Disease, Early Onset
|
0.080 |
Biomarker
|
disease |
BEFREE |
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.
|
29480197 |
2018 |
Alzheimer Disease, Early Onset
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
|
22472873 |
2012 |
Alzheimer Disease, Early Onset
|
0.080 |
Biomarker
|
disease |
BEFREE |
Furthermore, this study identified shared risk genes between EOAD and LOAD similar to previously reported genes, such as SORL1, PSEN2, and TREM2.
|
28738127 |
2017 |
Alzheimer Disease, Early Onset
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigated these 11 SORL1 variants identified in European EOAD and LOAD risk in individuals of European ancestry using a large-scale LOAD GWAS.
|
28527213 |
2017 |
Alzheimer Disease, Early Onset
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We conclude that predicted damaging rare SORL1 variants are a strong risk factor for EOAD and that the association signal is mainly driven by cases with positive family history.
|
26303663 |
2016 |
Alzheimer Disease, Late Onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, several genetic studies have identified allelic and haplotypic SORL1 variants associated with late-onset AD, and these variants confer small to modest risk of AD.
|
18713574 |
2008 |
Alzheimer Disease, Late Onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The SORL1 rs2070045 polymorphism was reported to be associated with SorLA expression in the brain and the risk of late-onset Alzheimer's disease (AD).
|
25598427 |
2015 |
Alzheimer Disease, Late Onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Reduced mRNA and protein for an apolipoprotein E (ApoE) receptor family member, SorLA (LR11) has been found in LOAD but not early-onset AD, suggesting that LR11 loss is not secondary to pathology.
|
18160637 |
2007 |
Alzheimer Disease, Late Onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Next to APOE-ɛ4 homozygosity, we found that all four affected family members carried a rare variant in the VPS10 domain of the SORL1 gene, associated with AβPP processing and AD risk.
|
27911290 |
2017 |
Alzheimer Disease, Late Onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To explore the relationship between the single nucleotide polymorphism (SNP) of the SORL1 SNP 19 rs2070045 and LOAD, a case-control study was conducted in a Chinese Han cohort including 77 LOAD patients and 100 control participants.
|
24309291 |
2014 |
Alzheimer Disease, Late Onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We believe that our findings further provide important supplementary information about the involvement of the SORL1 variants in LOAD risk.
|
28527213 |
2017 |
Alzheimer Disease, Late Onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Further validation in other sample sets will be required to assess the true effects of SORL1 variants in LOAD.
|
17949987 |
2008 |
Alzheimer Disease, Late Onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results confirm the association of SORL1 with AD and show a possible effect of female sex, suggesting that this gene may be a promising susceptibility factor for LOAD.
|
19822782 |
2009 |