eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thymic carcinoma | ||||
| Disease ID | 503 |
|---|---|
| Disease | thymic carcinoma |
| Definition | A thymoma that has an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. Although any morphologic subtype of thymoma may eventually have a malignant clinical course, this term is most often associated with thymoma types B3 and C. |
| Synonym | carcinoma, thymic carcinomas, thymic malignant thymoma malignant thymoma (disorder) thymic carcinomas thymoma and thymic carcinoma thymoma, malignant thymoma, malignant (morphologic abnormality) |
| Orphanet | |
| DOID | |
| UMLS | C0205969 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0026896 | myasthenia gravis | 3 C1522378 | large granular lymphocytosis | 1 C0152013 | lung adenocarcinoma | 1 C0001418 | adenocarcinoma | 1 C0040100 | thymomas | 1 C0040053 | thrombus | 1 C0040100 | thymoma | 1 C0221027 | good syndrome | 1 C0031039 | pericardial effusion | 1 C1527336 | sjogren's syndrome | 1 C0085292 | stiff man syndrome | 1 C0153676 | lung metastases | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:40) 273 | AMPH | 2.095 | DISEASES 551 | AVP | 1.581 | DISEASES 796 | CALCA | 1.732 | DISEASES 29126 | CD274 | 2.028 | DISEASES 921 | CD5 | 5.141 | DISEASES 1043 | CD52 | 1.549 | DISEASES 4267 | CD99 | 1.911 | DISEASES 1029 | CDKN2A | 1.539 | DISEASES 1045 | CDX2 | 2.367 | DISEASES 26047 | CNTNAP2 | 1.942 | DISEASES 23373 | CRTC1 | 1.452 | DISEASES 1500 | CTNND1 | 1.162 | DISEASES 4921 | DDR2 | 1.368 | DISEASES 1791 | DNTT | 2.7 | DISEASES 54556 | ING3 | 2.222 | DISEASES 3875 | KRT18 | 1.407 | DISEASES 3880 | KRT19 | 2.206 | DISEASES 3855 | KRT7 | 2.118 | DISEASES 4065 | LY75 | 1.916 | DISEASES 84441 | MAML2 | 2.412 | DISEASES 4221 | MEN1 | 1.785 | DISEASES 10232 | MSLN | 2.613 | DISEASES 4582 | MUC1 | 1.114 | DISEASES 727897 | MUC5B | 1.329 | DISEASES 7080 | NKX2-1 | 2.874 | DISEASES 7849 | PAX8 | 2.479 | DISEASES 9260 | PDLIM7 | 1.19 | DISEASES 30849 | PIK3R4 | 2.55 | DISEASES 5493 | PPL | 1.134 | DISEASES 122706 | PSMB11 | 4.381 | DISEASES 5744 | PTHLH | 1.438 | DISEASES 5757 | PTMA | 1.539 | DISEASES 5788 | PTPRC | 1.783 | DISEASES 6098 | ROS1 | 1.715 | DISEASES 29072 | SETD2 | 1.341 | DISEASES 6513 | SLC2A1 | 1.807 | DISEASES 23583 | SMUG1 | 3.311 | DISEASES 6949 | TCOF1 | 3.284 | DISEASES 7114 | TMSB4X | 2.167 | DISEASES 7422 | VEGFA | 1.504 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 503 |
|---|---|
| Disease | thymic carcinoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0005345 | Abnormality of the vena cava HP:0003473 | Fatigable weakness HP:0000975 | Hyperhidrosis HP:0002094 | Dyspnea HP:0100521 | Neoplasm of the thymus HP:0012378 | Fatigue HP:0100721 | Mediastinal lymphadenopathy HP:0100749 | Chest pain HP:0001824 | Weight loss HP:0006597 | Diaphragmatic paralysis HP:0012735 | Cough HP:0100540 | Palpebral edema HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0003473 | Fatigable weakness | 3 HP:0100522 | Thymoma | 2 HP:0001698 | Pericardial effusions | 1 HP:0002202 | Pleural effusion | 1 HP:0001708 | Impaired right ventricular function | 1 HP:0002835 | Aspiration | 1 HP:0002721 | Immunodeficiency | 1 HP:0030078 | Lung adenocarcinoma | 1 HP:0002664 | Neoplasia | 1 HP:0100827 | Lymphocytosis | 1 HP:0012531 | Pain | 1 HP:0030834 | Shoulder pain | 1 HP:0012579 | Minimal change glomerulonephritis | 1 |
| Disease ID | 503 |
|---|---|
| Disease | thymic carcinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894226 | 19861435 | 3845 | KRAS | umls:C0205969 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000542884 | 2009 | HRAS;LRRC56 | 11 | 534285 | C | T,A |
| rs104894230 | 19861435 | 3845 | KRAS | umls:C0205969 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000542884 | 2009 | HRAS;LRRC56 | 11 | 534288 | C | T,G,A |
| rs112445441 | 19861435 | 3845 | KRAS | umls:C0205969 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000542884 | 2009 | KRAS | 12 | 25245347 | C | A,G,T |
| rs121913529 | 19861435 | 3845 | KRAS | umls:C0205969 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000542884 | 2009 | KRAS | 12 | 25245350 | C | T,G,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100540 | Palpebral edema | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0003473 | Fatigable weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0006597 | Diaphragmatic paralysis | MP:0000755 | hindlimb paralysis | loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003473 | Fatigable weakness | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000975 | Hyperhidrosis | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002094 | Dyspnea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0006597 | Diaphragmatic paralysis | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0100540 | Palpebral edema | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| Disease ID | 503 |
|---|---|
| Disease | thymic carcinoma |
| Case | (Waiting for update.) |