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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
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: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 Biomarker disease BEFREE Possible involvement of LR11 in the cellular proliferation sheds new light on the recently proposed novel functions of the LDL receptor gene family in atherosclerosis. 11425040 2000
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 Biomarker disease BEFREE Possible involvement of LR11 in the cellular proliferation sheds new light on the recently proposed novel functions of the LDL receptor gene family in atherosclerosis. 11425040 2000
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 AlteredExpression disease BEFREE Furthermore, such proliferation-dependent expression of LR11 could be observed in a cultured neuroblastoma cell line, which was established to be a suitable in vitro model for proliferation and differentiation. 11425040 2000
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 AlteredExpression disease BEFREE Furthermore, such proliferation-dependent expression of LR11 could be observed in a cultured neuroblastoma cell line, which was established to be a suitable in vitro model for proliferation and differentiation. 11425040 2000
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 AlteredExpression disease BEFREE Furthermore, such proliferation-dependent expression of LR11 could be observed in a cultured neuroblastoma cell line, which was established to be a suitable in vitro model for proliferation and differentiation. 11425040 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease BEFREE We found dramatic and consistent loss of immunocytochemical staining for LR11 in histologically normal-appearing neurons in AD brains. 15313836 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 AlteredExpression disease LHGDN We found dramatic and consistent loss of immunocytochemical staining for LR11 in histologically normal-appearing neurons in AD brains. 15313836 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 AlteredExpression disease LHGDN Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. 16174740 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease LHGDN Newly published results indicate that the sorting protein-related receptor sorLA/LR11 regulates processing and trafficking of the precursor of the amyloid-beta peptides, revealing an alternative target for developing molecular clinical therapeutic compounds for Alzheimer Disease. 16565469 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease BEFREE We hypothesize that LR11 loss may be specific to sporadic AD and influence amyloid pathology through mechanisms independent of substrate-enzyme interactions regulated by FAD mutations. 16957580 2006
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.340 AlteredExpression disease BEFREE LR11/SorLA expression is reduced in sporadic Alzheimer disease but not in familial Alzheimer disease. 16957580 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 AlteredExpression disease BEFREE These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease. 17220890 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease LHGDN These data suggest that inherited or acquired changes in SORL1 expression or function are mechanistically involved in causing Alzheimer disease. 17220890 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.100 GeneticVariation disease BEFREE We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. 17220890 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease BEFREE Several individual SNPs and SNP haplotypes were significantly associated with AD in this prospectively collected community-based cohort, confirming the previously reported positive association of SORL1 with AD. 17420311 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 AlteredExpression disease LHGDN LR11 levels in MCI were intermediate between no cognitive impairment and AD. 17721864 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. 17826910 2007
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.100 GeneticVariation disease BEFREE These findings indicate a modest association of variants in SORL1 with AD. 17826910 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation disease BEFREE We investigated the relation of seven variants in the gene for SORL1 to age at onset and risk for AD among 208 adults with DS, 45-70 years of age at baseline. 17826910 2007