PedAM
Pediatric Disease Annotations & Medicines
| intracranial aneurysm | ||||
| Disease ID | 269 |
|---|---|
| Disease | intracranial aneurysm |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2700478 | meningioma C2096315 | headache C1962958 | hematoma C0750974 | primary brain tumors C0342751 | acid maltase deficiency C0265110 | cerebral vasospasm C0042373 | vascular disease C0040053 | thrombosis C0038525 | subarachnoid hemorrhage C0037763 | spasm C0028866 | oculomotor nerve paralysis C0028866 | oculomotor nerve palsy C0018989 | hemiparesis C0014544 | epileptic seizure C0014544 | epilepsy C0014130 | endocrinopathy C0006118 | brain tumour C0005586 | bipolar disorder |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0038525 | subarachnoid hemorrhage | 32 C0040053 | thrombosis | 3 C0018681 | headache | 3 C0028866 | oculomotor nerve palsy | 1 C0265110 | cerebral vasospasm | 1 C0018944 | hematoma | 1 C0025286 | meningioma | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:60) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1072737 | 22961961 | 100048912 | CDKN2B-AS1 | umls:C0007766 | BeFree | However, the metaanalysis yielded genomewide significance for SNP on chromosome 9p (CDKN2BAS; rs6475606; P=3.6×10(-8)) and provided further evidence to support the previously reported association of IA with SNP in SOX17 on chromosome 8q (rs1072737; P=8.7×10(-5)). | 0.121357209 | 2012 | NA | 8 | 54501764 | T | G |
| rs10733376 | 25256182 | 100048912 | CDKN2B-AS1 | umls:C0007766 | BeFree | Genome-wide evidence of association was detected in the discovery sample on chromosome 9 (CDKN2BAS; rs10733376: P<1.0×10(-11)), in a gene previously associated with IA. | 0.121357209 | 2015 | CDKN2B-AS1 | 9 | 22114470 | G | C |
| rs10733376 | 25256182 | 100048912 | CDKN2B-AS1 | umls:C0007766 | GWASCAT | Genome-wide evidence of association was detected in the discovery sample on chromosome 9 (CDKN2BAS; rs10733376: P<1.0×10(-11)), in a gene previously associated with IA. | 0.121357209 | 2015 | CDKN2B-AS1 | 9 | 22114470 | G | C |
| rs10757272 | 22286173 | 100048912 | CDKN2B-AS1 | umls:C0007766 | GWASCAT | Additionally, we successfully replicated and validated rs10757272 on CDKN2BAS at chromosome 9p21.3 (combined P-value = 1.55 × 10(-7); odds ratio = 1.21) to be significantly associated with IA as previously reported. | 0.121357209 | 2012 | CDKN2B-AS1 | 9 | 22088261 | C | T |
| rs10757272 | 22286173 | 100048912 | CDKN2B-AS1 | umls:C0007766 | BeFree | Additionally, we successfully replicated and validated rs10757272 on CDKN2BAS at chromosome 9p21.3 (combined P-value = 1.55 × 10(-7); odds ratio = 1.21) to be significantly associated with IA as previously reported. | 0.121357209 | 2012 | CDKN2B-AS1 | 9 | 22088261 | C | T |
| rs10958409 | 18997786 | 64321 | SOX17 | umls:C0007766 | GAD | [Susceptibility loci for intracranial aneurysm in European and Japanese populations.] | 0.005276948 | 2008 | NA | 8 | 54414531 | G | A |
| rs12413409 | 20364137 | 54805 | CNNM2 | umls:C0007766 | GWASCAT | Genome-wide association study of intracranial aneurysm identifies three new risk loci. | 0.12 | 2010 | CNNM2 | 10 | 102959339 | G | A |
| rs1333040 | 20395613 | 1029 | CDKN2A | umls:C0007766 | GAD | [Sequencing of CDKN2A, CDKN2B, and CDKN2BAS revealed additional SNPs, and their associations with IA were also tested.] | 0.007372538 | 2010 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 18997786 | 1030 | CDKN2B | umls:C0007766 | GAD | [Susceptibility loci for intracranial aneurysm in European and Japanese populations.] | 0.007101096 | 2008 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 20364137 | 100048912 | CDKN2B-AS1 | umls:C0007766 | GWASCAT | Genome-wide association study of intracranial aneurysm identifies three new risk loci. | 0.121357209 | 2010 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 20395613 | 100048912 | CDKN2B-AS1 | umls:C0007766 | BeFree | A region between introns 7 and 15 of CDKN2BAS carrying the rs1333040-T allele may confer risk for IA. | 0.121357209 | 2010 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 20395613 | 1030 | CDKN2B | umls:C0007766 | GAD | [Sequencing of CDKN2A, CDKN2B, and CDKN2BAS revealed additional SNPs, and their associations with IA were also tested.] | 0.007101096 | 2010 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 18997786 | 100048912 | CDKN2B-AS1 | umls:C0007766 | GWASCAT | Susceptibility loci for intracranial aneurysm in European and Japanese populations. | 0.121357209 | 2008 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1333040 | 18997786 | 1029 | CDKN2A | umls:C0007766 | GAD | [Susceptibility loci for intracranial aneurysm in European and Japanese populations.] | 0.007372538 | 2008 | CDKN2B-AS1 | 9 | 22083405 | C | T |
| rs1799983 | 18046500 | 4846 | NOS3 | umls:C0007766 | BeFree | Polymorphism in exon 7 of the endothelial nitric oxide synthase gene G894T seems to be a possible risk factor for intracranial aneurysm rupture. | 0.097445682 | 2008 | NOS3 | 7 | 150999023 | T | G |
| rs1930095 | 20613766 | 3984 | LIMK1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.001085767 | 2010 | NA | 9 | 108592638 | T | C |
| rs1930095 | 20613766 | 2006 | ELN | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.008706003 | 2010 | NA | 9 | 108592638 | T | C |
| rs1930095 | 20613766 | 392636 | AGMO | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.000271442 | 2010 | NA | 9 | 108592638 | T | C |
| rs1930095 | 20613766 | 9922 | IQSEC1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | NA | 9 | 108592638 | T | C |
| rs1930095 | 20613766 | 9826 | ARHGEF11 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | NA | 9 | 108592638 | T | C |
| rs2280543 | 22286173 | 51272 | BET1L | umls:C0007766 | GAD | [Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.] | 0.002367032 | 2012 | BET1L | 11 | 203788 | C | T |
| rs41322052 | 15658098 | 4846 | NOS3 | umls:C0007766 | BeFree | Among patients with aneurysms, those with heterozygous (T/C) endothelial nitric oxide synthase (eNOS) T-786C single nucleotide polymorphism (SNP), a mutation reducing endothelial nitric oxide synthesis, are reported to have larger ruptured intracranial aneurysms (IAs) than those with homozygous (C/C or T/T) genotype. | 0.097445682 | 2005 | NOS3 | 7 | 150993018 | C | T |
| rs41322052 | 15091109 | 4846 | NOS3 | umls:C0007766 | BeFree | In this prospective clinical study involving 141 participants, we used gene microarray technology to demonstrate that the eNOS gene intron-4 27-base pair variable number tandem repeat polymorphism (eNOS 27 VNTR) predicts susceptibility to intracranial aneurysm rupture, while the eNOS gene promoter T-786C single nucleotide polymorphism (eNOS T-786C SNP) predicts susceptibility to post-subarachnoid hemorrhage vasospasm. | 0.097445682 | 2004 | NOS3 | 7 | 150993018 | C | T |
| rs41322052 | 14576373 | 4846 | NOS3 | umls:C0007766 | BeFree | Endothelial nitric oxide synthase T-786C single nucleotide polymorphism: a putative genetic marker differentiating small versus large ruptured intracranial aneurysms. | 0.097445682 | 2003 | NOS3 | 7 | 150993018 | C | T |
| rs42524 | 19426706 | 1278 | COL1A2 | umls:C0007766 | BeFree | A coding polymorphism (rs42524) in COL1A2 has previously been associated with intracranial aneurysms. | 0.014178448 | 2009 | COL1A2 | 7 | 94413927 | C | A,G,T |
| rs42524 | 22815632 | 1278 | COL1A2 | umls:C0007766 | BeFree | In this study, we investigated the association of rs42524 in the alpha-2 type I collagen (COL1A2) gene, which has been identified as a risk variant for intracranial aneurysm, with nAMD and PCV in a Han Chinese population. | 0.014178448 | 2012 | COL1A2 | 7 | 94413927 | C | A,G,T |
| rs42524 | 19035720 | 1278 | COL1A2 | umls:C0007766 | GAD | [Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population.] | 0.014178448 | 2008 | COL1A2 | 7 | 94413927 | C | A,G,T |
| rs42524 | 19035720 | 1278 | COL1A2 | umls:C0007766 | BeFree | Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. | 0.014178448 | 2008 | COL1A2 | 7 | 94413927 | C | A,G,T |
| rs4628172 | 20613766 | 392636 | AGMO | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.000271442 | 2010 | AGMO | 7 | 15455525 | T | G |
| rs4628172 | 20613766 | 9922 | IQSEC1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | AGMO | 7 | 15455525 | T | G |
| rs4628172 | 20613766 | 3984 | LIMK1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.001085767 | 2010 | AGMO | 7 | 15455525 | T | G |
| rs4628172 | 20613766 | 2006 | ELN | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.008706003 | 2010 | AGMO | 7 | 15455525 | T | G |
| rs4628172 | 20613766 | 9826 | ARHGEF11 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | AGMO | 7 | 15455525 | T | G |
| rs4934 | 19907165 | 12 | SERPINA3 | umls:C0007766 | BeFree | Polymorphism rs4934 of SERPINA3 and sporadic intracranial aneurysms in the Chinese population. | 0.002909916 | 2010 | SERPINA3 | 14 | 94614466 | G | A |
| rs6475606 | 22961961 | 100048912 | CDKN2B-AS1 | umls:C0007766 | GWASCAT | However, the metaanalysis yielded genomewide significance for SNP on chromosome 9p (CDKN2BAS; rs6475606; P=3.6×10(-8)) and provided further evidence to support the previously reported association of IA with SNP in SOX17 on chromosome 8q (rs1072737; P=8.7×10(-5)). | 0.121357209 | 2012 | CDKN2B-AS1 | 9 | 22081851 | C | T |
| rs6475606 | 22961961 | 100048912 | CDKN2B-AS1 | umls:C0007766 | BeFree | However, the metaanalysis yielded genomewide significance for SNP on chromosome 9p (CDKN2BAS; rs6475606; P=3.6×10(-8)) and provided further evidence to support the previously reported association of IA with SNP in SOX17 on chromosome 8q (rs1072737; P=8.7×10(-5)). | 0.121357209 | 2012 | CDKN2B-AS1 | 9 | 22081851 | C | T |
| rs671 | 22286173 | 217 | ALDH2 | umls:C0007766 | GAD | [Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.] | 0.002367032 | 2012 | ALDH2 | 12 | 111803962 | G | A |
| rs6842241 | 22286173 | 1909 | EDNRA | umls:C0007766 | GAD | [Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.] | 0.122909916 | 2012 | EDNRA | 4 | 147479667 | C | A |
| rs6842241 | 22286173 | 1909 | EDNRA | umls:C0007766 | GWASCAT | Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. | 0.122909916 | 2012 | EDNRA | 4 | 147479667 | C | A |
| rs700651 | 18997786 | 5334 | PLCL1 | umls:C0007766 | GAD | [Susceptibility loci for intracranial aneurysm in European and Japanese populations.] | 0.002367032 | 2008 | BOLL | 2 | 197766990 | G | A |
| rs700651 | 18997786 | 66037 | BOLL | umls:C0007766 | GAD | [Susceptibility loci for intracranial aneurysm in European and Japanese populations.] | 0.122367032 | 2008 | BOLL | 2 | 197766990 | G | A |
| rs700651 | 18997786 | 66037 | BOLL | umls:C0007766 | GWASCAT | Susceptibility loci for intracranial aneurysm in European and Japanese populations. | 0.122367032 | 2008 | BOLL | 2 | 197766990 | G | A |
| rs7550260 | 20613766 | 9826 | ARHGEF11 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | ARHGEF11 | 1 | 157031869 | C | A |
| rs7550260 | 20613766 | 9922 | IQSEC1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | ARHGEF11 | 1 | 157031869 | C | A |
| rs7550260 | 20613766 | 2006 | ELN | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.008706003 | 2010 | ARHGEF11 | 1 | 157031869 | C | A |
| rs7550260 | 20613766 | 3984 | LIMK1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.001085767 | 2010 | ARHGEF11 | 1 | 157031869 | C | A |
| rs7550260 | 20613766 | 392636 | AGMO | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.000271442 | 2010 | ARHGEF11 | 1 | 157031869 | C | A |
| rs7781293 | 20613766 | 2006 | ELN | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.008706003 | 2010 | AGMO | 7 | 15451358 | C | A |
| rs7781293 | 20613766 | 3984 | LIMK1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.001085767 | 2010 | AGMO | 7 | 15451358 | C | A |
| rs7781293 | 20613766 | 9922 | IQSEC1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | AGMO | 7 | 15451358 | C | A |
| rs7781293 | 20613766 | 9826 | ARHGEF11 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | AGMO | 7 | 15451358 | C | A |
| rs7781293 | 20613766 | 392636 | AGMO | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.000271442 | 2010 | AGMO | 7 | 15451358 | C | A |
| rs9298506 | 18997786 | 64321 | SOX17 | umls:C0007766 | GAD | [Susceptibility loci for intracranial aneurysm in European and Japanese populations.] | 0.005276948 | 2008 | NA | 8 | 54524964 | A | G |
| rs9315204 | 20364137 | 90627 | STARD13 | umls:C0007766 | GAD | [We identified three new loci showing strong evidence for association with intracranial aneurysms in the combined dataset, including intervals near RBBP8 on 18q11.2 (odds ratio (OR) = 1.22, P = 1.1 x 10(-12)), STARD13-KL on 13q13.1 (OR = 1.20, P = 2.5 x 10(-9)) and a gene-rich region on 10q24.32 (OR = 1.29, P = 1.2 x 10(-9)).] | 0.122638474 | 2010 | STARD13 | 13 | 33119700 | C | T |
| rs9315204 | 20364137 | 90627 | STARD13 | umls:C0007766 | GWASCAT | We identified three new loci showing strong evidence for association with intracranial aneurysms in the combined dataset, including intervals near RBBP8 on 18q11.2 (odds ratio (OR) = 1.22, P = 1.1 x 10(-12)), STARD13-KL on 13q13.1 (OR = 1.20, P = 2.5 x 10(-9)) and a gene-rich region on 10q24.32 (OR = 1.29, P = 1.2 x 10(-9)). | 0.122638474 | 2010 | STARD13 | 13 | 33119700 | C | T |
| rs9864101 | 20613766 | 2006 | ELN | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.008706003 | 2010 | IQSEC1 | 3 | 13148884 | C | T |
| rs9864101 | 20613766 | 392636 | AGMO | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.000271442 | 2010 | IQSEC1 | 3 | 13148884 | C | T |
| rs9864101 | 20613766 | 9922 | IQSEC1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | IQSEC1 | 3 | 13148884 | C | T |
| rs9864101 | 20613766 | 3984 | LIMK1 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.001085767 | 2010 | IQSEC1 | 3 | 13148884 | C | T |
| rs9864101 | 20613766 | 9826 | ARHGEF11 | umls:C0007766 | BeFree | Consequently, five SNPs (P=1.31 × 10(-5) for rs1930095 of intergenic region; P=1.32 × 10(-5) for rs4628172 of TMEM195; P=2.78 × 10(-5) for rs7781293 of TMEM195; P=4.93 × 10(-5) for rs7550260 of ARHGEF11; and P=3.63 × 10(-5) for rs9864101 of IQSEC1) with probabilities of being false positives <0.5 were associated with IA in Japanese population, and the susceptibility genes could have a role in actin remodeling in the ELN/LIMK pathway. | 0.002638474 | 2010 | IQSEC1 | 3 | 13148884 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:3) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0007766 | amphetamine | D000661 | 300-62-9 | intracranial aneurysm | MESH:D002532 | marker/mechanism | 12604995 | ||
| C0007766 | nimodipine | D009553 | 66085-59-4 | intracranial aneurysm | MESH:D002532 | therapeutic | 3054619 | ||
| C0007766 | tranexamic acid | D014148 | 1197-18-8 | intracranial aneurysm | MESH:D002532 | therapeutic | 7000850 | ||
FDA approved drug and dosage information(Total Drugs:1) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D002532 | lysteda | tranexamic acid | 650MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
FDA labeling changes(Total Drugs:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D002532 | 08/21/2013 | lysteda | tranexamic acid | Treatment of cyclic heavy menstrual bleeding | Indicated for women of reproductive age. It is not intended for use in premenarcheal girls Information on PK studyPostmarketing study | - | P | - | - | Ferring | - | FALSE' | - |