PedAM
Pediatric Disease Annotations & Medicines
| ventricular septal defect | ||||
| Disease ID | 97 |
|---|---|
| Disease | ventricular septal defect |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:46) C2632116 | stenosis C2041143 | right bundle branch block C2004632 | aberrant right subclavian artery C1963244 | supraventricular tachycardia C1963220 | pulmonary hypertension C1962958 | hematoma C1956257 | pulmonic stenosis C1550639 | fistula C1541923 | infective endocarditis C1521999 | acute myocardial infarction C1421375 | congenital erythropoietic porphyria C1388247 | aortic valve endocarditis C1096458 | vascular obstruction C0878544 | cardiomyopathy C0741916 | cardiac defect C0700053 | muscular subaortic stenosis C0520767 | staphylococcal endocarditis C0345050 | annulo-aortic ectasia C0340375 | subaortic stenosis C0264351 | bronchial compression C0232258 | pansystolic murmur C0221060 | mobius syndrome C0220704 | velo-cardio-facial syndrome C0175703 | tar syndrome C0158619 | congenital mitral insufficiency C0155675 | pulmonary arteriovenous fistula C0152419 | interruption of aortic arch C0152419 | interrupted aortic arch C0042373 | vascular disease C0041295 | tuberculoma C0035619 | right ventricular outflow obstruction C0034065 | pulmonary embolism C0031154 | peritonitis C0026269 | mitral valve stenosis C0026269 | mitral stenosis C0026266 | mitral regurgitation C0018801 | heart failure C0018801 | cardiac insufficiency C0014122 | infectious endocarditis C0014118 | endocarditis C0012628 | discrete subaortic stenosis C0005411 | biliary atresia C0003505 | aortic valve prolapse C0003504 | aortic regurgitation C0003504 | aortic insufficiency C0002940 | aneurysm |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:20) C0009814 | stenosis | 16 C0002940 | aneurysm | 8 C0014118 | endocarditis | 6 C0003505 | aortic valve prolapse | 4 C0020542 | pulmonary hypertension | 4 C0016169 | fistula | 4 C0003504 | aortic insufficiency | 4 C0026266 | mitral regurgitation | 3 C0152419 | interrupted aortic arch | 3 C0014121 | infective endocarditis | 3 C0018801 | heart failure | 3 C0878544 | cardiomyopathy | 1 C0018944 | hematoma | 1 C0003504 | aortic regurgitation | 1 C0340375 | subaortic stenosis | 1 C0035619 | right ventricular outflow obstruction | 1 C0026269 | mitral stenosis | 1 C0041295 | tuberculoma | 1 C1956257 | pulmonic stenosis | 1 C0155626 | acute myocardial infarction | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894073 | 22589735 | 2626 | GATA4 | umls:C0018818 | BeFree | We previously reported that a heterozygous G296S missense mutation of GATA4 caused atrial and ventricular septal defects and pulmonary valve stenosis in humans. | 0.006710102 | 2012 | GATA4 | 8 | 11750213 | G | A,C,T |
| rs115099192 | 19302747 | 2626 | GATA4 | umls:C0018818 | BeFree | Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. | 0.006710102 | 2009 | GATA4 | 8 | 11758366 | C | A,G |
| rs121918466 | 17641779 | 5781 | PTPN11 | umls:C0018818 | BeFree | Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricular noncompaction, and ventricular septal defects, while, in the postnatal cardiomyocyte, Q79R SHP2 expression was completely benign. | 0.000271442 | 2007 | PTPN11 | 12 | 112450416 | A | G |
| rs2228638 | 24594544 | 4745 | NELL1 | umls:C0018818 | BeFree | We found that rs2228638 in NRP1 on 10p11 was significantly increased the risk of TOF (OR = 1.52, 95% CI = 1.13-2.04, P = 0.006), but not in other subgroups including ASD and VSD. | 0.000271442 | 2014 | NRP1 | 10 | 33186354 | C | T |
| rs387906776 | 20659440 | 1482 | NKX2-5 | umls:C0018818 | BeFree | In addition, we identified a non-synonymous variant in the NKX2-5 gene (P257A) associated with one congenital heart disease patient with VSD. | 0.016731045 | 2010 | NKX2-5 | 5 | 173232775 | G | C,A |
| rs56208331 | 19302747 | 2626 | GATA4 | umls:C0018818 | BeFree | Two heterozygous missense mutations of c.1220C > A and c.1273G > A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. | 0.006710102 | 2009 | GATA4 | 8 | 11758419 | G | A |
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) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0018818 | caffeine | D002110 | 1958/8/2 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 3130878 | ||
| C0018818 | carbamazepine | D002220 | 298-46-4 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 2492459 | ||
| C0018818 | diethylstilbestrol | D004054 | 56-53-1 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 830309 | ||
| C0018818 | medroxyprogesterone acetate | D017258 | 71-58-9 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 2934853 | ||
| C0018818 | phenytoin | D010672 | 57-41-0 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 2492459 | ||
| C0018818 | progesterone | D011374 | 57-83-0 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 830309 | ||
| C0018818 | trimethadione | D014293 | 127-48-0 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 15282739 | ||
| C0018818 | valproic acid | D014635 | 99-66-1 | heart septal defects, ventricular | MESH:D006345 | marker/mechanism | 1893664 | ||
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.) | |