PedAM
Pediatric Disease Annotations & Medicines
| hemangioma | ||||
| Disease ID | 1061 |
|---|---|
| Disease | hemangioma |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:8) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs118101777 | 22057234 | 3417 | IDH1 | umls:C0018916 | BeFree | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 0.120542884 | 2011 | IDH2 | 15 | 90087472 | C | T |
| rs118101777 | 22057234 | 3418 | IDH2 | umls:C0018916 | BeFree | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 0.120271442 | 2011 | IDH2 | 15 | 90087472 | C | T |
| rs121913499 | 22057234 | 3418 | IDH2 | umls:C0018916 | BeFree | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 0.120271442 | 2011 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913499 | 22057234 | 3417 | IDH1 | umls:C0018916 | BeFree | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 0.120542884 | 2011 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913499 | 23485734 | 3417 | IDH1 | umls:C0018916 | BeFree | R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations. | 0.120542884 | 2013 | IDH1 | 2 | 208248389 | G | T,A |
| rs121913500 | 22057234 | 3417 | IDH1 | umls:C0018916 | BeFree | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 0.120542884 | 2011 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 22057234 | 3418 | IDH2 | umls:C0018916 | BeFree | We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). | 0.120271442 | 2011 | IDH1 | 2 | 208248388 | C | T |
| rs121917766 | 11807987 | 3791 | KDR | umls:C0018916 | BeFree | Mutations were found in two of the 15 hemangioma specimens: a missense mutation (P1147S) in the kinase domain of the VEGFR2 (FLK1/KDR) gene in one specimen and a missense mutation (P954S) in the kinase insert of the VEGFR3 (FLT4) gene in another specimen. | 0.001085767 | 2002 | KDR | 4 | 55088939 | 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:3) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0018916 | betamethasone | D001623 | 378-44-9 | hemangioma | MESH:D006391 | therapeutic | 15107744 | ||
| C0018916 | propranolol | D011433 | 525-66-6 | hemangioma | MESH:D006391 | therapeutic | 19743301 | ||
| C0018916 | valproic acid | D014635 | 99-66-1 | hemangioma | MESH:D006391 | marker/mechanism | 1729766 | ||
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.) | |