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: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 Biomarker disease BEFREE LR11 and its released soluble form are strongly elevated in acute leukemias. 22750733 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
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
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
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
CUI: C0236848
Disease: Age-related cognitive decline
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
CUI: C0085631
Disease: Agitation
Agitation 		0.100 Biomarker phenotype HPO
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
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