PedAM
Pediatric Disease Annotations & Medicines
| aneurysm | ||||
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:10) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs17136627 | 23677057 | 3781 | KCNN2 | umls:C0002940 | BeFree | Of these, an SNP (rs17136627) in the potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2) at 5q22.3 was validated in 32 KD patients with large aneurysms (diameter>5 mm) and 191 KD patients without CALs (odds ratio (OR)=12.6, P(combined)=1.96 × 10(-8)). | 0.000271442 | 2013 | KCNN2;LOC101927078 | 5 | 114463289 | C | T |
| rs2276109 | 20827277 | 4321 | MMP12 | umls:C0002940 | BeFree | Analysis of the five MMP genes identified modest trends in allele and genotype frequencies for MMP-3 rs3025058 (-/T) and haplotypes containing MMP-3 rs3025058 (-/T) and MMP-12 rs2276109 (A/G) (nominal P=2 to 4 × 10(-5)) that conferred increased risk of aneurysm formation in US-UK subjects. | 0.002638474 | 2010 | MMP12 | 11 | 102875061 | T | C |
| rs2276109 | 20827277 | 4314 | MMP3 | umls:C0002940 | BeFree | Analysis of the five MMP genes identified modest trends in allele and genotype frequencies for MMP-3 rs3025058 (-/T) and haplotypes containing MMP-3 rs3025058 (-/T) and MMP-12 rs2276109 (A/G) (nominal P=2 to 4 × 10(-5)) that conferred increased risk of aneurysm formation in US-UK subjects. | 0.003995683 | 2010 | MMP12 | 11 | 102875061 | T | C |
| rs28493229 | 21533171 | 80271 | ITPKC | umls:C0002940 | BeFree | Taken together, our results indicated that C-allele of ITPKC SNP rs28493229 is associated with the susceptibility and aneurysm formation in KD patients in a Taiwanese population. | 0.000814326 | 2011 | ADCK4;ITPKC | 19 | 40718299 | G | C |
| rs3025058 | 20827277 | 4321 | MMP12 | umls:C0002940 | BeFree | Analysis of the five MMP genes identified modest trends in allele and genotype frequencies for MMP-3 rs3025058 (-/T) and haplotypes containing MMP-3 rs3025058 (-/T) and MMP-12 rs2276109 (A/G) (nominal P=2 to 4 × 10(-5)) that conferred increased risk of aneurysm formation in US-UK subjects. | 0.002638474 | 2010 | NA | NA | NA | NA | NA |
| rs3025058 | 20827277 | 4314 | MMP3 | umls:C0002940 | BeFree | Analysis of the five MMP genes identified modest trends in allele and genotype frequencies for MMP-3 rs3025058 (-/T) and haplotypes containing MMP-3 rs3025058 (-/T) and MMP-12 rs2276109 (A/G) (nominal P=2 to 4 × 10(-5)) that conferred increased risk of aneurysm formation in US-UK subjects. | 0.003995683 | 2010 | NA | NA | NA | NA | NA |
| rs41322052 | 15658098 | 4846 | NOS3 | umls:C0002940 | BeFree | Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size. | 0.004810009 | 2005 | NOS3 | 7 | 150993018 | C | T |
| rs41322052 | 22194275 | 1636 | ACE | umls:C0002940 | BeFree | More significant associations between single nucleotide polymorphisms (-786T/C endothelial nitric oxide synthase enzyme, D/I angiotensin-converting enzyme, -1562C/T metalloproteinase-9 and -735C/T metalloproteinase-2) and aneurysm risk were detected in BAV patients than in controls. | 0.001357209 | 2012 | NOS3 | 7 | 150993018 | C | T |
| rs41322052 | 22194275 | 4846 | NOS3 | umls:C0002940 | BeFree | More significant associations between single nucleotide polymorphisms (-786T/C endothelial nitric oxide synthase enzyme, D/I angiotensin-converting enzyme, -1562C/T metalloproteinase-9 and -735C/T metalloproteinase-2) and aneurysm risk were detected in BAV patients than in controls. | 0.004810009 | 2012 | NOS3 | 7 | 150993018 | C | T |
| rs41322052 | 14576373 | 4846 | NOS3 | umls:C0002940 | BeFree | Although not predictive of SAH in the population at large, our data suggest that among persons with known intracranial aneurysms, eNOS T-786C genotype may be a factor influencing the size at which an aneurysm ruptures, a finding that should be taken into consideration along with other anatomic features of the aneurysm. | 0.004810009 | 2003 | NOS3 | 7 | 150993018 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:8) | |||||||||
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| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0002940 | amphetamine | D000661 | 300-62-9 | aneurysm | MESH:D000783 | marker/mechanism | 17989327 | ||
| C0002940 | colchicine | D003078 | 64-86-8 | aneurysm | MESH:D000783 | marker/mechanism | 5760170 | ||
| C0002940 | cyclophosphamide | D003520 | 50-18-0 | aneurysm | MESH:D000783 | therapeutic | 10813312 | ||
| C0002940 | calcitriol | D002117 | 32222-06-3 | aneurysm | MESH:D000783 | marker/mechanism | 15834294 | ||
| C0002940 | doxycycline | D004318 | 564-25-0 | aneurysm | MESH:D000783 | therapeutic | 15741211 | ||
| C0002940 | everolimus | D000068338 | - | aneurysm | MESH:D000783 | marker/mechanism | 16302997 | ||
| C0002940 | indomethacin | D007213 | 53-86-1 | aneurysm | MESH:D000783 | therapeutic | 10189013 | ||
| C0002940 | propranolol | D011433 | 525-66-6 | aneurysm | MESH:D000783 | therapeutic | 8958985 | ||
FDA approved drug and dosage information(Total Drugs:2) | ||||||||
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| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D000783 | calcijex | calcitriol | 0.001MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | INJECTABLE;INJECTION | Discontinued | None | Yes | No |
| MESH:D000783 | afinitor | everolimus | 5MG | TABLET;ORAL | Prescription | None | Yes | No |
FDA labeling changes(Total Drugs:2) | |||||||||||||
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| 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:D000783 | 11/16/2001 | calcijex | calcitriol | Management of hypocalcemia in patients undergoing chronic renal dialysis | The safety and effectiveness of calcitriol was examined in a double-blind placebo-controlled trial of 35 pediatric patients (13-18 years of age) with end-stage renal disease and on dialysis. The primary efficacy endpoint favored the calcitriol-treated versus the placebo-treated patients Transient hypercalcemia was seen in 1 of 16 calcitriol-treated patients; 6 of 16 (38%) calcitriol-treated patients and 2 of 19 (11%) placebo-treated patients had Ca x P >75 | Labeling | B | - | - | - | Abbott | 02/16/2001 | FALSE' |
| MESH:D000783 | 10/29/2010 | afinitor | everolimus | Treatment of patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis | Approved for treatment of patients with SEGA associated with TS An open-label, single-arm safety and efficacy trial was conducted in 28 patients 3-34 years with SEGA associated with TS Afinitor has not been studied in patients with SEGA < 3 years of ageMost common adverse reactions (incidence e30%) were stomatitis, upper respiratory tract infection, sinusitis, otitis media, and pyrexiaDose reduction and/or treatment interruption may be needed to manage adverse drug reactions Information on starting dose, therapeutic drug monitoring, clinical trial, and adverse reactions New indication | Labeling | B | - | - | - | Novartis | - | FALSE' |