SORT1, sortilin 1, 6272

N. diseases: 111; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 AlteredExpression disease BEFREE Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease. 19660754 2010
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE We also identify SORT1 and CELSR2 as candidate susceptibility genes for a locus recently associated with coronary artery disease and plasma low-density lipoprotein cholesterol levels in the process. 18462017 2008
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE We also identify SORT1 and CELSR2 as candidate susceptibility genes for a locus recently associated with coronary artery disease and plasma low-density lipoprotein cholesterol levels in the process. 18462017 2008
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 GeneticVariation group BEFREE Studies of sortilin's influence on cardiovascular and metabolic diseases goes far beyond the genome-wide association studies that have revealed an association between cardiovascular diseases and the 1p13 locus that encodes sortilin. 29191923 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 Biomarker group BEFREE Together our findings support a novel role of Sortilin in energy regulation and lipid homeostasis in female mice, which may be a potential therapeutic target for obesity and cardiovascular disease. 29899496 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 Biomarker group BEFREE Sortilin-1, a receptor of the VPS10p family, has been associated with cardiovascular disease in genome-wide association studies. 28742217 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 Biomarker group BEFREE The fact that SORT1 has been strongly associated with risk of cardiovascular disease is intriguing as cardiovascular disease is also regarded as a risk factor for AD. 27392867 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 GeneticVariation group BEFREE Primary outcome of interest was incident hard CVD (myocardial infarction, stroke, and cardiovascular death); interaction between proneurotensin concentration with sex, low-density lipoprotein concentrations, and sortilin receptor 1 single-nucleotide polymorphisms was sought. 27312221 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 Biomarker group BEFREE Sortilin seems to play an important role in the development of cardiovascular disease and have functions beyond regulating LDL-cholesterol. 25702058 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 Biomarker group CTD_human Genetic variation of SORT1 was strongly associated with cardiovascular disease risk in humans. 25805502 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 GeneticVariation group BEFREE These results provide evidence of decreased exposure to atherogenic particles in carriers of the minor SORT1 allele, suggesting relative protection against cardiovascular disease when compared with TT homozygotes. 25042869 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.380 Biomarker group BEFREE Sortilin and the risk of cardiovascular disease. 23910371 2013
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.310 Biomarker group CTD_human Finally, we found that liver Sort1 was repressed after BDL, which may be due to BA activation of farnesoid x receptor. 28453831 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.310 Biomarker group BEFREE This study further suggests that therapeutic inhibition of SORT1 may be beneficial in improving hepatic cholesterol homeostasis in metabolic and inflammatory liver diseases. 27881673 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.300 Biomarker disease CTD_human Sortilin 1 Loss-of-Function Protects Against Cholestatic Liver Injury by Attenuating Hepatic Bile Acid Accumulation in Bile Duct Ligated Mice. 28453831 2018
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
0.300 Biomarker phenotype CTD_human Sortilin 1 Loss-of-Function Protects Against Cholestatic Liver Injury by Attenuating Hepatic Bile Acid Accumulation in Bile Duct Ligated Mice. 28453831 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE The Epistasis Project: A Multi-Cohort Study of the Effects of BDNF, DBH, and SORT1 Epistasis on Alzheimer's Disease Risk. 30909233 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.100 Biomarker disease BEFREE Sortilin enhances lysosomal degradation of ABCA1 protein and suppresses ABCA1-mediated cholesterol efflux from macrophages, leading to foam cell formation and AS development. 30950489 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.100 Biomarker disease BEFREE We showed that sortilin is significantly and independently associated with the presence of lower limb PAD in a statin-free diabetic population and it may be a promising marker for clinically significant atherosclerosis of the lower limbs. 30634965 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 Biomarker disease BEFREE Sortilin enhances lysosomal degradation of ABCA1 protein and suppresses ABCA1-mediated cholesterol efflux from macrophages, leading to foam cell formation and AS development. 30950489 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 Biomarker disease BEFREE We showed that sortilin is significantly and independently associated with the presence of lower limb PAD in a statin-free diabetic population and it may be a promising marker for clinically significant atherosclerosis of the lower limbs. 30634965 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE In this minireview, we update some latest findings from animal experiments and human brain studies suggesting that abnormal sortilin expression is associated with AD-type neuropathology, warranting further research that might lead to novel targets for the development of AD therapies. 29687731 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE In this study, we first found that the protein level of sortilin was up-regulated in the neocortex of aged (7 and 9months old) but not young (2 and 5months old) AD mice (APP/PS1). 29056359 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE Induction of apoptosis and p75 ICD internalization by AD patients-derived proBDNF is further enhanced in neuron cultures from the AD model expressing the APP/PS1∆E9 transgene.Our results indicate the importance of proBDNF neurotoxic signaling in AD pathology essentially by three mechanisms: i) by an increase of proBDNF stability due to ROS-induced post-traductional modifications; ii) by the increase of expression of the p75 co-receptor, Sortilin and iii) by the increase of the basal levels of p75 processing found in AD. 30428894 2018