PedAM
Pediatric Disease Annotations & Medicines
| chondrosarcoma | ||||
| Disease ID | 94 |
|---|---|
| Disease | chondrosarcoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0006765 | Chondrosarcoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:24) HP:0002664 | Neoplasia | 12 HP:0030431 | Osteochondromas | 4 HP:0030038 | Enchondroma | 2 HP:0012032 | Lipoma | 1 HP:0100242 | Sarcoma | 1 HP:0002277 | Horner's syndrome | 1 HP:0030731 | Carcinoma | 1 HP:0012062 | Bone cysts | 1 HP:0030883 | Femoroacetabular Impingement | 1 HP:0002762 | Multiple exostoses | 1 HP:0030432 | Chondroblastoma | 1 HP:0000726 | Dementia | 1 HP:0002885 | Medulloblastoma | 1 HP:0002835 | Aspiration | 1 HP:0001289 | Confusion | 1 HP:0012531 | Pain | 1 HP:0100843 | Glioblastoma | 1 HP:0003002 | Breast carcinoma | 1 HP:0002669 | Osteosarcoma | 1 HP:0012254 | Ewing's sarcoma | 1 HP:0012315 | Histiocytoma | 1 HP:0002204 | Pulmonary embolism | 1 HP:0012063 | Aneurysmal bone cyst | 1 HP:0100576 | Amaurosis fugax | 1 |
| Disease ID | 94 |
|---|---|
| Disease | chondrosarcoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913105 | 24324705 | 3141 | HLCS | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.001628651 | 2013 | FGFR3 | 4 | 1806163 | A | C,T |
| rs121913105 | 24324705 | 2261 | FGFR3 | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.000271442 | 2013 | FGFR3 | 4 | 1806163 | A | C,T |
| rs121913105 | 24324705 | 54205 | CYCS | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.001628651 | 2013 | FGFR3 | 4 | 1806163 | A | C,T |
| rs28931614 | 24324705 | 54205 | CYCS | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.001628651 | 2013 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28931614 | 24324705 | 3141 | HLCS | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.001628651 | 2013 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28931614 | 24324705 | 2261 | FGFR3 | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.000271442 | 2013 | FGFR3 | 4 | 1804392 | G | A,C |
| rs587776540 | NA | 2131 | EXT1 | umls:C0008479 | CLINVAR | NA | 0.489248887 | NA | EXT1 | 8 | 118110512 | GCACTTTG | - |
| rs78311289 | 24324705 | 3141 | HLCS | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.001628651 | 2013 | FGFR3 | 4 | 1806162 | A | C,G |
| rs78311289 | 24324705 | 54205 | CYCS | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.001628651 | 2013 | FGFR3 | 4 | 1806162 | A | C,G |
| rs78311289 | 24324705 | 2261 | FGFR3 | umls:C0008479 | BeFree | Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. | 0.000271442 | 2013 | FGFR3 | 4 | 1806162 | A | C,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0008479 | methotrexate | D008727 | 1959/5/2 | chondrosarcoma | MESH:D002813 | therapeutic | 666479 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |