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 Biomarker disease BEFREE Higher circulating sortilin concentration has been found in patients with coronary atherosclerosis compared to control subjects. 30634965 2019
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 Biomarker disease BEFREE Genome-wide association studies (GWAS) revealed an association between sortilin and reduced plasma LDL-cholesterol (LDL-C) as well as reduced coronary artery disease (CAD). 30946050 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Circulating sortilin level as a potential biomarker for coronary atherosclerosis and diabetes mellitus. 28728579 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Increased sortilin and its independent effect on circulating proprotein convertase subtilisin/kexin type 9 (PCSK9) in statin-naive patients with coronary artery disease. 27846466 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 AlteredExpression disease BEFREE In addition, the receiver operating characteristic curve analysis showed that plasma sortilin levels could identify the presence of CAD or diabetes mellitus. 28728579 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 Biomarker disease BEFREE Circulating sortilin tended to be higher in CAD patients than in non-CAD subjects, yet the difference is significant only between the statin-naive CAD patients and controls [4.96(4.38,6.57) vs 4.28(2.96,5.03) ng/ml, P=0.032]. 27846466 2017
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: 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 Biomarker disease BEFREE Examples include a role for NO signaling in myocardial repolarization and sudden cardiac death and a role for the protein sortilin in lipid metabolism and coronary artery disease. 25870159 2015
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 AlteredExpression disease BEFREE The genetic loci for ATP-binding cassette transporters G5 and G8, Niemann-Pick C1-Like protein 1, sortilin-1, ABO blood-group glycosyltransferases, myosin regulatory light chain-interacting protein and cholesterol 7α-hydroxylase have all consistently been associated with LDL cholesterol levels and/or coronary artery disease in GWAS. 25887678 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 AlteredExpression disease BEFREE The genetic loci for ATP-binding cassette transporters G5 and G8, Niemann-Pick C1-Like protein 1, sortilin-1, ABO blood-group glycosyltransferases, myosin regulatory light chain-interacting protein and cholesterol 7α-hydroxylase have all consistently been associated with LDL cholesterol levels and/or coronary artery disease in GWAS. 25887678 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.400 Biomarker disease BEFREE Examples include a role for NO signaling in myocardial repolarization and sudden cardiac death and a role for the protein sortilin in lipid metabolism and coronary artery disease. 25870159 2015
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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.400 AlteredExpression disease BEFREE CELSR2-PSRC1-SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort. 24674750 2014
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 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 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 AlteredExpression disease BEFREE Expression levels of SORT1 are negatively correlated with an intergenic risk allele on chromosome 1p13.3 that was previously associated with CAD. 22476029 2012
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: 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 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