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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 AlteredExpression disease BEFREE NT-3 protein expression was then studied in 47 human pancreatic cancers, using a monoclonal antibody against human NT-3 protein. 9196438 1997
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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 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: C0001430
Disease: Adenoma
Adenoma 		0.020 AlteredExpression group BEFREE NTR3 mRNA expression was observed in all examined samples and was higher in the adenomas, both functioning and nonfunctioning, compared to normal pituitary. 18624930 2008
CUI: C0001430
Disease: Adenoma
Adenoma 		0.020 Biomarker group LHGDN NTR3 mRNA expression was observed in all examined samples and was higher in the adenomas, both functioning and nonfunctioning, compared to normal pituitary. 18624930 2008
CUI: C0028754
Disease: Obesity
Obesity 		0.090 AlteredExpression disease BEFREE Sortilin, an essential player in adipocyte and muscle glucose metabolism through the control of GLUT4 localisation, is downregulated in obesity and TNF-alpha is likely to be involved in this defect. 19219422 2009
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		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: 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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.400 GeneticVariation disease BEFREE The rs599839 polymorphism A/G in the vicinity of the sortilin 1 gene has been reported to be associated with low density lipoprotein cholesterol (LDL-C) and coronary artery disease (CAD). 19837406 2010
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.050 GeneticVariation disease BEFREE Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction. The Ludwigshafen Risk and Cardiovascular Health Study. 19837406 2010
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.030 Biomarker disease BEFREE Absence of sortilin in gene-targeted mice reduces secretion of lipoproteins from the liver and ameliorates hypercholesterolemia and atherosclerotic lesion formation in LDL receptor-deficient animals. 20816088 2010
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion 		0.020 Biomarker disease BEFREE Absence of sortilin in gene-targeted mice reduces secretion of lipoproteins from the liver and ameliorates hypercholesterolemia and atherosclerotic lesion formation in LDL receptor-deficient animals. 20816088 2010
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.050 AlteredExpression disease BEFREE An accompanying study in Nature identified SORT1 as the causal gene at the 1p13 locus and showed that increased expression of sortilin-1 protein in liver was associated with lower LDL-C levels and a reduced risk of myocardial infarction. 20826839 2010
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.020 Biomarker disease BEFREE Sortilin-mediated PGRN endocytosis is likely to play a central role in FTLD-TDP pathophysiology. 21092856 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE Our initial studies revealed increased levels of sortilin in post-mortem brain tissue of AD patients and that overexpression of sortilin leads to increased BACE1-mediated cleavage of APP in cultured cells. 21245145 2011
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		0.010 AlteredExpression disease BEFREE Our initial studies revealed increased levels of sortilin in post-mortem brain tissue of AD patients and that overexpression of sortilin leads to increased BACE1-mediated cleavage of APP in cultured cells. 21245145 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.050 Biomarker group BEFREE Massively parallel sequencing and splicing-sensitive junction arrays revealed that levels of 601 mRNAs were changed (including Fus (Tls), progranulin and other transcripts encoding neurodegenerative disease-associated proteins) and 965 altered splicing events were detected (including in sortilin, the receptor for progranulin) following depletion of TDP-43 from mouse adult brain with antisense oligonucleotides. 21358643 2011
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.400 Biomarker disease CTD_human Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.400 Biomarker disease CTD_human Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.050 GeneticVariation disease BEFREE Our results establish two SNPs, rs17465637 in MIA3 and rs599839 near SORT1 as significant risk factors for MI in the American Genebank Caucasian population. 21463265 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 GeneticVariation disease BEFREE SORT1 rs599839 was associated with CHD risk (OR 1.20; 1.15-1.26) as well as total- and LDL-cholesterol, and apolipoprotein B. ANGPTL3 rs12042319 was associated with CHD risk (OR 1.11; 1.03, 1.19), total- and LDL-cholesterol, triglycerides, and interleukin-6. 21804106 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 Biomarker disease BEFREE In contrast to BDNF, exogenous pro-BDNF induced CRC apoptosis, which suggests that a counterbalance mechanism is involved in the control of CRC cell survival, through sortilin as the co-receptor for p75(NTR), the high affinity receptor for pro-neurotrophins. 21966426 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 AlteredExpression disease BEFREE These data reveal the existence of an autocrine loop stimulated by proNGF and mediated by TrkA and sortilin, with the activation of Akt and Src, for the stimulation of breast cancer cell invasion. 22128158 2012