PedAM
Pediatric Disease Annotations & Medicines
| vascular disease | ||||
| Disease ID | 668 |
|---|---|
| Disease | vascular disease |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:26) C0011847 | diabetes | 526 C0011849 | diabetes mellitus | 137 C0856169 | endothelial dysfunction | 96 C0011570 | depression | 81 C0038454 | stroke | 76 C0009450 | infection | 33 C0497327 | dementia | 33 C0598608 | hyperhomocysteinemia | 20 C0040053 | thrombosis | 19 C0020473 | hyperlipidemia | 16 C0021311 | infections | 16 C0730345 | microalbuminuria | 9 C0030193 | pain | 8 C0025517 | metabolic disorders | 8 C0032285 | pneumoniae | 5 C0018681 | headache | 2 C0598608 | hyperhomocysteinaemia | 2 C0042396 | vasospasm | 2 C0022660 | acute renal failure | 2 C0398623 | hypercoagulability | 2 C0026650 | movement disorders | 1 C0021888 | intraocular pressure | 1 C0497327 | dementias | 1 C0242422 | parkinsonism | 1 C0030567 | parkinson's disease | 1 C0743496 | end organ damage | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:69) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10935838 | 17707382 | 64805 | P2RY12 | umls:C0042373 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151340459 | A | G |
| rs11070795 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50561175 | T | C |
| rs11206510 | 24251769 | 255738 | PCSK9 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000542884 | 2013 | NA | 1 | 55030366 | T | C |
| rs11206510 | 24251769 | 6272 | SORT1 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000271442 | 2013 | NA | 1 | 55030366 | T | C |
| rs1122608 | 24251769 | 6272 | SORT1 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000271442 | 2013 | SMARCA4 | 19 | 11052925 | G | T |
| rs1122608 | 24251769 | 255738 | PCSK9 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000542884 | 2013 | SMARCA4 | 19 | 11052925 | G | T |
| rs11635825 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50662750 | T | C |
| rs11854949 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50686144 | T | G |
| rs12905120 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50642146 | T | C |
| rs1333049 | 19664850 | 348 | APOE | umls:C0042373 | BeFree | Altogether, our data indicate for the first time that the C allele of rs1333049 in the vascular disease susceptibility locus is associated with VaD and LOAD, independent of traditional risk factors and the APOE ε4 genotype. | 0.024245541 | 2011 | NA | 9 | 22125504 | G | C |
| rs1501299 | 16990411 | 9370 | ADIPOQ | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed the presence of 5 ADIPOQ genetic variants (rs266729, rs182052, rs822396, rs2241766, and rs1501299) in samples from 600 Caucasian men who subsequently suffered an atherothrombotic event (incident myocardial infarction or ischemic stroke) and from 600 age- and smoking-matched Caucasian men who remained free of reported vascular disease during follow-up (controls). | 0.010811525 | 2006 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853334 | G | T |
| rs16973487 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50636712 | T | A |
| rs17520350 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50605476 | T | C |
| rs17520378 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50608409 | G | C |
| rs17645523 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50590448 | T | C |
| rs1799983 | 23512673 | 4846 | NOS3 | umls:C0042373 | BeFree | The 894TT genotype of 894G>T (Glu298Asp, rs1799983), a polymorphic variant of eNOS, has been associated with several vascular diseases. | 0.018631138 | 2013 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 11298374 | 4846 | NOS3 | umls:C0042373 | BeFree | The Glu298Asp (G894T) polymorphic variant of eNOS has been associated with vascular disease, but functional data are lacking. | 0.018631138 | 2001 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 18827745 | 4846 | NOS3 | umls:C0042373 | BeFree | The eNOS gene polymorphism at position 894 (G>T, Glu298Asp) resulting in T allele has been studied in the context of vascular diseases, but its role in sepsis has not yet been explored. | 0.018631138 | 2009 | NOS3 | 7 | 150999023 | T | G |
| rs1799983 | 22004707 | 4846 | NOS3 | umls:C0042373 | BeFree | Endothelial nitric oxide synthase (eNOS) G894T polymorphism has been previously associated with vascular diseases including stroke, but often with conflicting results. | 0.018631138 | 2011 | NOS3 | 7 | 150999023 | T | G |
| rs1801394 | 19348062 | 4552 | MTRR | umls:C0042373 | BeFree | Methionine synthase reductase (MTRR) A66G polymorphism is not related to plasma homocysteine concentration and the risk for vascular disease. | 0.002638474 | 2009 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs182052 | 16990411 | 9370 | ADIPOQ | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed the presence of 5 ADIPOQ genetic variants (rs266729, rs182052, rs822396, rs2241766, and rs1501299) in samples from 600 Caucasian men who subsequently suffered an atherothrombotic event (incident myocardial infarction or ischemic stroke) and from 600 age- and smoking-matched Caucasian men who remained free of reported vascular disease during follow-up (controls). | 0.010811525 | 2006 | ADIPOQ | 3 | 186842993 | G | A |
| rs1902341 | 20610895 | 114884 | OSBPL10 | umls:C0042373 | GAD | [Our genome-wide exploration identified suggestive evidence of PAD association at the OSBPL10 locus. Because the association has not reached a genome-wide significant level, further replication study is warranted for verification in the Japanese population] | 0.002367032 | 2010 | OSBPL10 | 3 | 31754078 | C | T |
| rs2046934 | 17707382 | 64805 | P2RY12 | umls:C0042373 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151339854 | G | A |
| rs2144151 | 20596041 | 51378 | ANGPT4 | umls:C0042373 | BeFree | The multipoint linkage peak was located at marker rs2144151 in the ANGPT4 gene, which is a strong candidate gene for vascular disease because of its involvement in angiogenesis. | 0.000271442 | 2010 | ANGPT4 | 20 | 903001 | T | G |
| rs2227721 | 23041018 | 790 | CAD | umls:C0042373 | BeFree | The rs2227721 was associated with susceptibility of vascular disease; the odds ratios among subjects carrying rs2227721-T allele were 1.298 (95% Confidence Interval-CI, 1.033-1.631) for non-MI CAD (P<0.05), 1.346 (95% CI, 1.068-1.695) for chronic MI (P<0.05), 1.486 (95% CI, 1.145-1.928) for acute MI (P<0.001), and 1.619 (95% CI, 1.108-2.366) for deep venous thrombosis (P<0.05). | 0.000542884 | 2012 | VTN;SARM1 | 17 | 28370430 | C | A |
| rs2241766 | 16990411 | 9370 | ADIPOQ | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed the presence of 5 ADIPOQ genetic variants (rs266729, rs182052, rs822396, rs2241766, and rs1501299) in samples from 600 Caucasian men who subsequently suffered an atherothrombotic event (incident myocardial infarction or ischemic stroke) and from 600 age- and smoking-matched Caucasian men who remained free of reported vascular disease during follow-up (controls). | 0.010811525 | 2006 | ADIPOQ;ADIPOQ-AS1 | 3 | 186853103 | T | G |
| rs2359536 | 20610895 | 84898 | PLXDC2 | umls:C0042373 | GAD | [Our genome-wide exploration identified suggestive evidence of PAD association at the OSBPL10 locus. Because the association has not reached a genome-wide significant level, further replication study is warranted for verification in the Japanese population] | 0.002367032 | 2010 | LOC105376442 | 10 | 20610679 | T | C |
| rs266729 | 16990411 | 9370 | ADIPOQ | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed the presence of 5 ADIPOQ genetic variants (rs266729, rs182052, rs822396, rs2241766, and rs1501299) in samples from 600 Caucasian men who subsequently suffered an atherothrombotic event (incident myocardial infarction or ischemic stroke) and from 600 age- and smoking-matched Caucasian men who remained free of reported vascular disease during follow-up (controls). | 0.010811525 | 2006 | ADIPOQ | 3 | 186841685 | C | G |
| rs267606743 | 25228067 | 1282 | COL4A1 | umls:C0042373 | BeFree | Interestingly, the COL4A1 p.Gly510Arg mutation has been previously identified in a family with HANAC (Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps), a multisystemic disease featuring retinal arteriolar tortuosity. | 0.000542884 | 2014 | COL4A1 | 13 | 110192222 | C | T |
| rs2968915 | 21157371 | 10159 | ATP6AP2 | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.000271442 | 2011 | ATP6AP2 | X | 40580182 | G | A |
| rs2968915 | 21157371 | 183 | AGT | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.004538567 | 2011 | ATP6AP2 | X | 40580182 | G | A |
| rs3109894 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50586377 | G | A |
| rs313158 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | NA | 6 | 85334045 | A | T |
| rs34203073 | 16443853 | 55109 | AGGF1 | umls:C0042373 | BeFree | It has been reported that the activating mutation, E133K, in the angiogenic factor VG5Q (formally named AGGF1) causes Klippel-Trenaunay Syndrome (KTS), a rare vascular disease associated with asymmetric overgrowth. | 0.000542884 | 2006 | AGGF1 | 5 | 77035624 | G | A |
| rs344781 | 20967855 | 5329 | PLAUR | umls:C0042373 | GAD | [The UPAR rs344781 gene variant is associated with the SSc vascular phenotype.] | 0.002367032 | 2011 | PLAUR | 19 | 43670636 | C | T |
| rs386545618 | 15576298 | 4524 | MTHFR | umls:C0042373 | BeFree | The 5,10-methylenetetrahydrofolate reductase ( MTHFR ) gene 677C --> T polymorphism causes an A222V amino acid change which affects MTHFR enzyme activity and can increase homocysteine, a vascular disease risk factor. | 0.155222768 | 2004 | NA | NA | NA | NA | NA |
| rs386572987 | 20185929 | 2739 | GLO1 | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.002638474 | 2010 | NA | NA | NA | NA | NA |
| rs386572987 | 20185929 | 101669765 | LINC00914 | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
| rs386572987 | 20185929 | 5891 | MOK | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
| rs386572987 | 20185929 | 177 | AGER | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.001357209 | 2010 | NA | NA | NA | NA | NA |
| rs387906592 | 22831780 | 59 | ACTA2 | umls:C0042373 | BeFree | Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to global smooth muscle dysfunction. | 0.001900093 | 2012 | ACTA2 | 10 | 88941309 | C | T |
| rs397507444 | 11274015 | 4524 | MTHFR | umls:C0042373 | BeFree | C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease. | 0.155222768 | 2001 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17966140 | 4524 | MTHFR | umls:C0042373 | BeFree | Mutations or polymorphisms in the gene of the enzyme methylenetetrahydrofolate reductase (MTHFR), as C677T, A1298C and G1793A, are associated with hyperhomocysteinemia and possibly with elevated risk for vascular diseases. | 0.155222768 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 11451544 | 4524 | MTHFR | umls:C0042373 | BeFree | This study was undertaken to investigate the involvement of MTHFR gene mutations C677T and A1298C implicated in vascular disease, in patients with abruptio placentae and intrauterine growth restriction (IUGR). | 0.155222768 | 2001 | MTHFR | 1 | 11794407 | T | G |
| rs4291 | 21157371 | 10159 | ATP6AP2 | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.000271442 | 2011 | ACE | 17 | 63476833 | T | A |
| rs4291 | 21157371 | 183 | AGT | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.004538567 | 2011 | ACE | 17 | 63476833 | T | A |
| rs4746 | 20185929 | 177 | AGER | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.001357209 | 2010 | GLO1 | 6 | 38682852 | T | G |
| rs4746 | 20185929 | 101669765 | LINC00914 | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.001085767 | 2010 | GLO1 | 6 | 38682852 | T | G |
| rs4746 | 20185929 | 5891 | MOK | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.001085767 | 2010 | GLO1 | 6 | 38682852 | T | G |
| rs4746 | 20185929 | 2739 | GLO1 | umls:C0042373 | BeFree | The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. | 0.002638474 | 2010 | GLO1 | 6 | 38682852 | T | G |
| rs4775892 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50600917 | G | T |
| rs4775899 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50675526 | T | C |
| rs5049 | 21157371 | 183 | AGT | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.004538567 | 2011 | AGT | 1 | 230714337 | C | T |
| rs5049 | 21157371 | 10159 | ATP6AP2 | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.000271442 | 2011 | AGT | 1 | 230714337 | C | T |
| rs5443 | 18783529 | 2784 | GNB3 | umls:C0042373 | BeFree | Published studies have reported the associations of GNB3 C825T polymorphism with many vascular diseases. | 0.000271442 | 2008 | GNB3;CDCA3 | 12 | 6845711 | C | T |
| rs579459 | 24251769 | 255738 | PCSK9 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000542884 | 2013 | NA | 9 | 133278724 | C | T |
| rs579459 | 24251769 | 6272 | SORT1 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000271442 | 2013 | NA | 9 | 133278724 | C | T |
| rs5853517 | 17707382 | 64805 | P2RY12 | umls:C0042373 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151339797 | T | - |
| rs5981008 | 21157371 | 10159 | ATP6AP2 | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.000271442 | 2011 | NA | NA | NA | NA | NA |
| rs5981008 | 21157371 | 183 | AGT | umls:C0042373 | BeFree | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571). | 0.004538567 | 2011 | NA | NA | NA | NA | NA |
| rs599839 | 24251769 | 255738 | PCSK9 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000542884 | 2013 | PSRC1 | 1 | 109279544 | G | A |
| rs599839 | 24251769 | 6272 | SORT1 | umls:C0042373 | BeFree | Single-nucleotide polymorphisms associated with plasma LDL-c and vascular risk in the general population (rs11206510 (PCSK9), rs1122608 (LDLR), rs579459 (ABO) and rs599839 (SORT1)) were genotyped in a prospective cohort study of 5482 patients with vascular disease. | 0.000271442 | 2013 | PSRC1 | 1 | 109279544 | G | A |
| rs616256 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50561374 | A | G |
| rs6809699 | 17707382 | 64805 | P2RY12 | umls:C0042373 | BeFree | Using DNA samples collected at baseline in a prospective cohort of 14,916 initially healthy American men, we examined the possible association of P2RY12 genetic variants, in particular a haplotype H2 (constituted by dbSNP rs10935838, rs2046934, rs5853517, and rs6809699) amongst 708 white males who subsequently developed a thromboembolic event (incident myocardial infarction (MI), ischemic stroke, or deep venous thromboembolism/pulmonary embolism (DVT/PE)) and amongst an equal number of age- and smoking-matched white males who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2008 | P2RY12;MED12L | 3 | 151338810 | A | C |
| rs7163283 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50623901 | A | G |
| rs7173321 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50630403 | C | G |
| rs7174839 | 19644062 | 54822 | TRPM7 | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed 16 TRPM7 tag-single-nucleotide polymorphisms (SNPs) (dbSNP: rs11854949, rs4775899, rs11635825, rs12905120, rs16973487, rs7173321, rs7163283, rs17520378, rs17520350, rs4775892, rs7174839, rs17645523, rs3109894, rs616256, rs11070795, and rs313158) from 245 white men who subsequently had an incident ischemic stroke and from 245 age- and smoking habit-matched white men who remained free of reported vascular disease during follow-up (controls). | 0.000542884 | 2009 | TRPM7 | 15 | 50597427 | G | C |
| rs80356814 | 16117820 | 4000 | LMNA | umls:C0042373 | BeFree | Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in Japanese men with type 2 diabetes. | 0.000271442 | 2005 | LMNA | 1 | 156138697 | C | T |
| rs822396 | 16990411 | 9370 | ADIPOQ | umls:C0042373 | BeFree | From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially healthy American men, we assessed the presence of 5 ADIPOQ genetic variants (rs266729, rs182052, rs822396, rs2241766, and rs1501299) in samples from 600 Caucasian men who subsequently suffered an atherothrombotic event (incident myocardial infarction or ischemic stroke) and from 600 age- and smoking-matched Caucasian men who remained free of reported vascular disease during follow-up (controls). | 0.010811525 | 2006 | ADIPOQ | 3 | 186849088 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:10) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 1 | 165365379 | rs17469292 | A | G | rs17469292 | 17505501 | 7.30E-05 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | A | NA |
| 2 | 21231524 | rs676210 | G | A | rs676210 | 17505501 | 4.40E-04 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | G | APOB |
| 3 | 13889848 | rs1368576 | G | A | rs1368576 | 17505501 | 2.50E-04 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | T | WNT7A |
| 6 | 31731014 | rs707937 | C | G | rs707937 | 17505501 | 1.95E-04 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | G | SAPCD1 |
| 6 | 32572666 | rs2858869 | A | G | rs2858869 | 17505501 | 6.00E-06 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | T | LOC100507709 |
| 6 | 32651117 | rs9275141 | T | G | rs9275141 | 17505501 | 2.00E-07 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | G | NA |
| 7 | 29332233 | rs4722897 | T | C | rs4722897 | 17505501 | 5.10E-05 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | C | CHN2 |
| 7 | 94942765 | rs2299257 | A | C | rs2299257 | 17505501 | 1.10E-05 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | C | PON1 |
| 12 | 111592380 | rs2157876 | G | T | rs2157876 | 17505501 | 1.90E-04 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | G | CUX2 |
| 21 | 43674859 | rs7281093 | G | A | rs7281093 | 17505501 | 8.70E-05 | NA | NA | NA | 74 cases; 130 controls | NOPOP(204) | ALL(204) | NOPOP(204) | ALL(204) | Response to ximelagatran treatment | HPOID:0100738 | Abnormal eating behavior | DOID:178 | vascular disease | NA | NA | NA | NA | Vascular disease | NA | NA | G | ABCG1 |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:43) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0042373 | acetaminophen | D000082 | 103-90-2 | vascular diseases | MESH:D014652 | marker/mechanism | 3971888 | ||
| C0042373 | alpha-linolenic acid | D017962 | 463-40-1 | vascular diseases | MESH:D014652 | marker/mechanism | 25482063 | ||
| C0042373 | alprazolam | D000525 | 28981-97-7 | vascular diseases | MESH:D014652 | marker/mechanism | 10464538 | ||
| C0042373 | amitriptyline | D000639 | 50-48-6 | vascular diseases | MESH:D014652 | marker/mechanism | 12212966 | ||
| C0042373 | bleomycin | D001761 | 11056-06-7 | vascular diseases | MESH:D014652 | marker/mechanism | 6173125 | ||
| C0042373 | capsaicin | D002211 | 404-86-4 | vascular diseases | MESH:D014652 | marker/mechanism | 15298541 | ||
| C0042373 | carbamazepine | D002220 | 298-46-4 | vascular diseases | MESH:D014652 | marker/mechanism | 10464538 | ||
| C0042373 | chloramphenicol | D002701 | 56-75-7 | vascular diseases | MESH:D014652 | marker/mechanism | 4825630 | ||
| C0042373 | ciprofloxacin | D002939 | 85721-33-1 | vascular diseases | MESH:D014652 | marker/mechanism | 7667064 | ||
| C0042373 | cyclophosphamide | D003520 | 50-18-0 | vascular diseases | MESH:D014652 | marker/mechanism | 17164692 | ||
| C0042373 | cyclosporine | D016572 | 59865-13-3 | vascular diseases | MESH:D014652 | marker/mechanism | 11092348 | ||
| C0042373 | defibrotide | C036901 | 83712-60-1 | vascular diseases | MESH:D014652 | therapeutic | 12750969 | ||
| C0042373 | desogestrel | D017135 | 54024-22-5 | vascular diseases | MESH:D014652 | marker/mechanism | 15019538 | ||
| C0042373 | cisplatin | D002945 | 15663-27-1 | vascular diseases | MESH:D014652 | marker/mechanism | 16301596 | ||
| C0042373 | diethylstilbestrol | D004054 | 56-53-1 | vascular diseases | MESH:D014652 | marker/mechanism | 4073162 | ||
| C0042373 | dihydroergotamine | D004087 | 511-12-6 | vascular diseases | MESH:D014652 | therapeutic | 4601018 | ||
| C0042373 | etomidate | D005045 | 33125-97-2 | vascular diseases | MESH:D014652 | marker/mechanism | 10655920 | ||
| C0042373 | everolimus | D000068338 | - | vascular diseases | MESH:D014652 | marker/mechanism | 19135948 | ||
| C0042373 | fenfluramine | D005277 | 458-24-2 | vascular diseases | MESH:D014652 | marker/mechanism | 10383810 | ||
| C0042373 | hydroxyurea | D006918 | 127-07-1 | vascular diseases | MESH:D014652 | therapeutic | 14965870 | ||
| C0042373 | lisuride | D008090 | 18016-80-3 | vascular diseases | MESH:D014652 | marker/mechanism | 4050844 | ||
| C0042373 | methotrexate | D008727 | 1959/5/2 | vascular diseases | MESH:D014652 | marker/mechanism | 8164455 | ||
| C0042373 | methotrexate | D008727 | 1959/5/2 | vascular diseases | MESH:D014652 | therapeutic | 25575725 | ||
| C0042373 | methysergide | D008784 | 361-37-5 | vascular diseases | MESH:D014652 | marker/mechanism | 2944904 | ||
| C0042373 | metoprolol | D008790 | 37350-58-6 | vascular diseases | MESH:D014652 | marker/mechanism | 8554013 | ||
| C0042373 | mitomycin | D016685 | 1950/7/7 | vascular diseases | MESH:D014652 | marker/mechanism | 6796250 | ||
| C0042373 | nicotine | D009538 | - | vascular diseases | MESH:D014652 | marker/mechanism | 16378124 | ||
| C0042373 | nimodipine | D009553 | 66085-59-4 | vascular diseases | MESH:D014652 | therapeutic | 3603356 | ||
| C0042373 | olanzapine | C076029 | 132539-06-1 | vascular diseases | MESH:D014652 | marker/mechanism | 10464538 | ||
| C0042373 | phentermine | D010645 | 122-09-8 | vascular diseases | MESH:D014652 | marker/mechanism | 10383810 | ||
| C0042373 | propranolol | D011433 | 525-66-6 | vascular diseases | MESH:D014652 | marker/mechanism | 5819188 | ||
| C0042373 | ramipril | D017257 | 87333-19-5 | vascular diseases | MESH:D014652 | therapeutic | 18378520 | ||
| C0042373 | spironolactone | D013148 | 1952/1/7 | vascular diseases | MESH:D014652 | therapeutic | 15496307 | ||
| C0042373 | streptozocin | D013311 | 18883-66-4 | vascular diseases | MESH:D014652 | marker/mechanism | 20732820 | ||
| C0042373 | tacrolimus | D016559 | 109581-93-3 | vascular diseases | MESH:D014652 | marker/mechanism | 11092348 | ||
| C0042373 | thalidomide | D013792 | 50-35-1 | vascular diseases | MESH:D014652 | marker/mechanism | 15741222 | ||
| C0042373 | thiopental | D013874 | 76-75-5 | vascular diseases | MESH:D014652 | marker/mechanism | 16116121 | ||
| C0042373 | ticlopidine | D013988 | 55142-85-3 | vascular diseases | MESH:D014652 | marker/mechanism | 9592992 | ||
| C0042373 | ticlopidine | D013988 | 55142-85-3 | vascular diseases | MESH:D014652 | therapeutic | 11960063 | ||
| C0042373 | vinblastine | D014747 | 865-21-4 | vascular diseases | MESH:D014652 | marker/mechanism | 6173125 | ||
| C0042373 | vinorelbine | C030852 | 71486-22-1 | vascular diseases | MESH:D014652 | marker/mechanism | 12750969 | ||
| C0042373 | cholecalciferol | D002762 | 67-97-0 | vascular diseases | MESH:D014652 | marker/mechanism | 16378124 | ||
| C0042373 | zidovudine | D015215 | 30516-87-1 | vascular diseases | MESH:D014652 | marker/mechanism | 8745244 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |