PedAM
Pediatric Disease Annotations & Medicines
| mitral valve stenosis | ||||
| Disease ID | 1256 |
|---|---|
| Disease | mitral valve stenosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0002092 | Pulmonary artery hypertension | 1 HP:0000969 | Dropsy | 1 HP:0001631 | Atria septal defect | 1 HP:0000822 | Hypertension | 1 HP:0001650 | Valvular aortic stenosis | 1 HP:0002094 | Dyspnea | 1 HP:0001651 | Thoracic situs inversus | 1 HP:0001907 | Thromboembolic disease | 1 HP:0001635 | Congestive heart failure | 1 HP:0005317 | Increased pulmonary vascular resistance | 1 HP:0003774 | End-stage renal failure | 1 HP:0100598 | Pulmonary oedema | 1 |
| Disease ID | 1256 |
|---|---|
| Disease | mitral valve stenosis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0018801 | heart failure | 1 C0018802 | congestive heart failure | 1 C0020542 | pulmonary hypertension | 1 C0040053 | thrombus | 1 C0741299 | atrial thrombus | 1 C0013404 | dyspnea | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10492972 | 21680216 | 23095 | KIF1B | umls:C0026269 | BeFree | We studied the association of the polymorphic locus rs10492972 present in the KIF1B gene with genetic predisposition and its occurrence in clinical presentations of MS patients resident in western Siberia and the Sakha Republic (Yakutia), Russia. | 0.000271442 | 2011 | KIF1B | 1 | 10293054 | T | C |
| rs17000900 | 17126411 | 3456 | IFNB1 | umls:C0026269 | BeFree | The objective of this study was to evaluate the associations between two MXA promoter region single nucleotide polymorphisms (rs2071430 and rs17000900) and the gene expression responses, clinical and MRI phenotypes in IFN-beta treated MS patients. | 0.007328931 | 2007 | MX1 | 21 | 41426103 | C | A |
| rs1800566 | 24755231 | 1728 | NQO1 | umls:C0026269 | BeFree | Our results indicate that NQO1 rs1800566 does not have an effect on MS disease risk. | 0.000542884 | 2014 | NQO1 | 16 | 69711242 | G | A |
| rs2071430 | 17126411 | 3456 | IFNB1 | umls:C0026269 | BeFree | The objective of this study was to evaluate the associations between two MXA promoter region single nucleotide polymorphisms (rs2071430 and rs17000900) and the gene expression responses, clinical and MRI phenotypes in IFN-beta treated MS patients. | 0.007328931 | 2007 | MX1 | 21 | 41426138 | G | T |
| rs2228570 | 22805623 | 7421 | VDR | umls:C0026269 | BeFree | The aim of this study is to measure plasma levels of OPG and RANKL as well as to analyze VDR FokI polymorphism (rs2228570) in MS patients and healthy individuals to detect any potential correlation. | 0.000542884 | 2012 | VDR | 12 | 47879112 | A | T,G,C |
| rs4774 | 19659749 | 4261 | CIITA | umls:C0026269 | BeFree | The objectives of this study were: (i) to reappraise the association that was found in the previous study; (ii) to evaluate if MS patients with minor allele C and HHV-6A active infection had different clinical behavior; and (iii) to analyze the possible association of MHC2TA rs4774C with Epstein-Barr virus (EBV). | 0.000814326 | 2010 | CIITA | 16 | 10906991 | G | C |
| rs731236 | 21664963 | 4155 | MBP | umls:C0026269 | BeFree | Analyses performed on HLA-DRB1*15-positive MS patients and HC alone confirmed the protective role of rs731236 TT VDR genotype (p(y)=0.004; OR: 0.53; 95% CI: 0.33-0.83); notably, FACS, PCR, and confocal microscopy analyses showed that rs731236 TT genotype is associated with an augmented VDR expression in MBP-stimulated PBMC from patients. | 0.006786047 | 2011 | VDR;LOC105369749 | 12 | 47844974 | A | G |
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:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0026269 | methysergide | D008784 | 361-37-5 | mitral valve stenosis | MESH:D008946 | marker/mechanism | 17099974 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |