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: 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Effect of SORT1, APOB and APOE polymorphisms on LDL-C and coronary heart disease in Pakistani subjects and their comparison with Northwick Park Heart Study II. 27112212 2016
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 GeneticVariation disease BEFREE Compelling evidence linking the SORT1 gene to both LDL cholesterol (LDL-C) levels and the risk of coronary artery disease emerged from the data, prompting the search for the molecules and mechanisms responsible for this association. 24500115 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE We analyzed the relationship between rs599839 and rs646776 single nucleotide polymorphisms (SNPs) present in the CELSR2-PSRC1-SORT1 gene cluster, candidate gene expression, and their association with CAD and circulating lipid levels in a representative cohort of Asian Indians selected from the Indian Atherosclerosis Research Study. 24674750 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE Compelling evidence linking the SORT1 gene to both LDL cholesterol (LDL-C) levels and the risk of coronary artery disease emerged from the data, prompting the search for the molecules and mechanisms responsible for this association. 24500115 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE Effect of SORT1, APOB and APOE polymorphisms on LDL-C and coronary heart disease in Pakistani subjects and their comparison with Northwick Park Heart Study II. 27112212 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE Aim was to estimate the genotypic distribution and risk allele frequencies of 13 Coronary Artery Disease (CAD) risk Single Nucleotide Polymorphisms in loci identified by the CARDIoGRAMplusC4D consortium namely MIA3 rs17465637; 9p21 rs10757274; CXCL12 rs1746048; APOA5 rs662799; APOB rs1042031; LPA rs3798220; LPA 10455872; MRAS rs9818870; LPL rs328; SORT1 rs646776; PCSK9 rs11591147; APOE rs429358; APOE rs7412 in Pakistani PCAD patients and controls. 28705542 2019
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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs662799 (p=0.0014), LDLR rs1433099 (p=2.1 × 10(-7)), and APOE rs7412 (p=6.1 × 10(-13)). 23050023 2012
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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE CAD association was replicated for three GWAS-identified loci (1p13.3/SORT1 (rs599839), 9p21.3/CDKN2A/2B (rs4977574), and 11q22.3/ PDGFD (rs974819)) in Koreans. 23364394 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 GeneticVariation disease BEFREE No association was found between the SNPs of rs599839, rs464218 and rs6698843 at the CELSR2-PSRC1-SORT1 and the risk of CAD or IS. 26464717 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 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 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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE No association of SORT1 gene polymorphism with sporadic Alzheimer's disease in the Chinese Han population. 23660633 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE The gene encoding sortilin receptor 1 (SORL1) has been associated with Alzheimer's disease risk. 23318115 2013
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.100 GeneticVariation disease BEFREE We analyzed the relationship between rs599839 and rs646776 single nucleotide polymorphisms (SNPs) present in the CELSR2-PSRC1-SORT1 gene cluster, candidate gene expression, and their association with CAD and circulating lipid levels in a representative cohort of Asian Indians selected from the Indian Atherosclerosis Research Study. 24674750 2014
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.100 GeneticVariation disease BEFREE Interrogation of the Atherosclerosis-Associated <i>SORT1</i> (Sortilin 1) Locus With Primary Human Hepatocytes, Induced Pluripotent Stem Cell-Hepatocytes, and Locus-Humanized Mice. 29097363 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 GeneticVariation disease BEFREE Interrogation of the Atherosclerosis-Associated <i>SORT1</i> (Sortilin 1) Locus With Primary Human Hepatocytes, Induced Pluripotent Stem Cell-Hepatocytes, and Locus-Humanized Mice. 29097363 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.100 GeneticVariation disease BEFREE We analyzed the relationship between rs599839 and rs646776 single nucleotide polymorphisms (SNPs) present in the CELSR2-PSRC1-SORT1 gene cluster, candidate gene expression, and their association with CAD and circulating lipid levels in a representative cohort of Asian Indians selected from the Indian Atherosclerosis Research Study. 24674750 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.100 GeneticVariation disease BEFREE Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-PSRC1-SORT1), rs2259816 (HNF1A), and rs11206510 (PCSK9) showed directionally consistent associations with CHD in the 3 studies, with combined odds ratios (ORs) ranging from 1.17 to 1.25 (p = 0.03 to 0.0002). 22152955 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.100 GeneticVariation disease BEFREE Compelling evidence linking the SORT1 gene to both LDL cholesterol (LDL-C) levels and the risk of coronary artery disease emerged from the data, prompting the search for the molecules and mechanisms responsible for this association. 24500115 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.100 GeneticVariation disease BEFREE Effect of SORT1, APOB and APOE polymorphisms on LDL-C and coronary heart disease in Pakistani subjects and their comparison with Northwick Park Heart Study II. 27112212 2016
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