eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thymoma | ||||
| Disease ID | 511 |
|---|---|
| Disease | thymoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:86) C2707258 | infections C2700513 | aplastic anemia C2242624 | pure white cell aplasia C1963198 | pancreatitis C1963091 | diarrhea C1868690 | addison disease C1608408 | malignant transformation C1415107 | stiff person syndrome C1368107 | bone marrow aplasia C1290344 | nonspecific interstitial pneumonia C1112570 | paraneoplastic pemphigus C1000483 | anemia C0877221 | erythroblastopenia C0876973 | pulmonary infections C0865240 | red cell aplasia C0836924 | thrombocytosis C0702094 | agranulocytosis C0585186 | cutaneous hypersensitivity C0521173 | granulomatosis C0497327 | dementia C0494165 | liver metastasis C0494165 | hepatic metastasis C0442874 | neuropathy C0398581 | t-cell lymphocytosis C0343192 | microscopic polyangiitis C0340161 | mediastinal hematoma C0338430 | limbic encephalitis C0334415 | chromaffinoma C0279706 | thymic lymphoepithelioma-like carcinoma C0276253 | cytomegalovirus pneumonia C0271844 | parathyroid hyperplasia C0263313 | pemphigus foliaceus C0263312 | pemphigus erythematosus C0242287 | continuous muscle fiber activity C0238097 | cytomegalovirus encephalitis C0234131 | motor dysfunction C0153678 | pleural metastases C0153676 | pulmonary metastases C0153676 | lung metastasis C0152902 | esophageal tuberculosis C0151773 | marrow hypoplasia C0086438 | hypogammaglobulinemia C0086438 | hypogammaglobulinaemia C0085655 | polymyositis C0085292 | stiff-person syndrome C0038454 | stroke C0037274 | skin diseases C0037274 | dermatologic disorders C0034902 | pure red cell aplasia C0033975 | psychosis C0032305 | pneumocystis carinii pneumonia C0031511 | phaeochromocytoma C0030805 | pemphigoid C0030472 | paraneoplastic syndromes C0030472 | paraneoplastic syndrome C0030312 | pancytopenia C0030196 | limb pain C0027726 | nephrotic syndrome C0027126 | myotonic dystrophy C0027126 | dystrophia myotonica C0027121 | myositis C0026896 | myasthenia gravis C0024282 | lymphocytosis C0023968 | loa loa infection C0023646 | lichen planus C0022658 | renal disease C0022658 | nephropathies C0021847 | intestinal pseudo-obstruction C0021051 | immunodeficiency C0019348 | herpes simplex C0018939 | hematologic disorders C0018023 | nodular goiter C0014038 | encephalitis C0009450 | infectious diseases C0009447 | common variable hypogammaglobulinaemia C0009447 | acquired hypogammaglobulinaemia C0009447 | acquired agammaglobulinemia C0008311 | cholangitis C0005747 | blepharospasm C0004364 | autoimmune diseases C0004364 | autoimmune disease C0002881 | hereditary hemolytic anemia C0002880 | autoimmune haemolytic anaemia C0002878 | hemolytic anemia C0002874 | aplastic anaemia C0001824 | granulocytopenia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:25) C0026896 | myasthenia gravis | 55 C0021051 | immunodeficiency | 10 C0034902 | pure red cell aplasia | 8 C0281963 | red cell aplasia | 8 C0004364 | autoimmune disease | 5 C0014038 | encephalitis | 4 C0338430 | limbic encephalitis | 4 C0086438 | hypogammaglobulinemia | 3 C0030472 | paraneoplastic syndrome | 3 C0398581 | t-cell lymphocytosis | 2 C0085292 | stiff-person syndrome | 2 C0021311 | infections | 2 C0024282 | lymphocytosis | 2 C0030472 | paraneoplastic syndromes | 1 C0002871 | anemia | 1 C0002878 | hemolytic anemia | 1 C0027126 | myotonic dystrophy | 1 C0086438 | hypogammaglobulinaemia | 1 C0030312 | pancytopenia | 1 C0027121 | myositis | 1 C0004364 | autoimmune diseases | 1 C0263313 | pemphigus foliaceus | 1 C0002874 | aplastic anemia | 1 C0023646 | lichen planus | 1 C0027726 | nephrotic syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:19) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894226 | 19861435 | 3265 | HRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | HRAS;LRRC56 | 11 | 534285 | C | T,A |
| rs104894226 | 19861435 | 3845 | KRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | HRAS;LRRC56 | 11 | 534285 | C | T,A |
| rs104894230 | 19861435 | 3265 | HRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | HRAS;LRRC56 | 11 | 534288 | C | T,G,A |
| rs104894230 | 19861435 | 3845 | KRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | HRAS;LRRC56 | 11 | 534288 | C | T,G,A |
| rs112445441 | 19861435 | 3845 | KRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | KRAS | 12 | 25245347 | C | A,G,T |
| rs112445441 | 19861435 | 3265 | HRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | KRAS | 12 | 25245347 | C | A,G,T |
| rs121434569 | 24698130 | 5291 | PIK3CB | umls:C0040100 | BeFree | The PC-9-derived NSCLC cell lines PC-9ER and PC-9ZD, resistant to EGFR-TKI due to v-crk avian sarcoma virus CT10 oncogene homolog-like (CRKL) amplification-induced phosphatidylinositol 3-kinase (PI3K)/v-akt murine thymoma viral oncogene homolog (AKT) activation and an EGFR T790M mutation, respectively, were used. | 0.002171535 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24698130 | 5294 | PIK3CG | umls:C0040100 | BeFree | The PC-9-derived NSCLC cell lines PC-9ER and PC-9ZD, resistant to EGFR-TKI due to v-crk avian sarcoma virus CT10 oncogene homolog-like (CRKL) amplification-induced phosphatidylinositol 3-kinase (PI3K)/v-akt murine thymoma viral oncogene homolog (AKT) activation and an EGFR T790M mutation, respectively, were used. | 0.002171535 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24698130 | 5290 | PIK3CA | umls:C0040100 | BeFree | The PC-9-derived NSCLC cell lines PC-9ER and PC-9ZD, resistant to EGFR-TKI due to v-crk avian sarcoma virus CT10 oncogene homolog-like (CRKL) amplification-induced phosphatidylinositol 3-kinase (PI3K)/v-akt murine thymoma viral oncogene homolog (AKT) activation and an EGFR T790M mutation, respectively, were used. | 0.002442977 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24698130 | 5293 | PIK3CD | umls:C0040100 | BeFree | The PC-9-derived NSCLC cell lines PC-9ER and PC-9ZD, resistant to EGFR-TKI due to v-crk avian sarcoma virus CT10 oncogene homolog-like (CRKL) amplification-induced phosphatidylinositol 3-kinase (PI3K)/v-akt murine thymoma viral oncogene homolog (AKT) activation and an EGFR T790M mutation, respectively, were used. | 0.002171535 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24698130 | 1956 | EGFR | umls:C0040100 | BeFree | The PC-9-derived NSCLC cell lines PC-9ER and PC-9ZD, resistant to EGFR-TKI due to v-crk avian sarcoma virus CT10 oncogene homolog-like (CRKL) amplification-induced phosphatidylinositol 3-kinase (PI3K)/v-akt murine thymoma viral oncogene homolog (AKT) activation and an EGFR T790M mutation, respectively, were used. | 0.006253095 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24698130 | 1399 | CRKL | umls:C0040100 | BeFree | The PC-9-derived NSCLC cell lines PC-9ER and PC-9ZD, resistant to EGFR-TKI due to v-crk avian sarcoma virus CT10 oncogene homolog-like (CRKL) amplification-induced phosphatidylinositol 3-kinase (PI3K)/v-akt murine thymoma viral oncogene homolog (AKT) activation and an EGFR T790M mutation, respectively, were used. | 0.000271442 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121913529 | 19861435 | 3265 | HRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 19861435 | 3845 | KRAS | umls:C0040100 | BeFree | One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. | 0.000814326 | 2009 | KRAS | 12 | 25245350 | C | T,G,A |
| rs1863800 | 25003519 | 1493 | CTLA4 | umls:C0040100 | BeFree | A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene to general risk of MG in Chinese was demonstrated for the first time, which was likely derived from EOMG, SPMG, MG without thymoma and the female patients. | 0.004624443 | 2014 | NA | 2 | 203837937 | C | T |
| rs231775 | 25003519 | 1493 | CTLA4 | umls:C0040100 | BeFree | A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene to general risk of MG in Chinese was demonstrated for the first time, which was likely derived from EOMG, SPMG, MG without thymoma and the female patients. | 0.004624443 | 2014 | CTLA4 | 2 | 203867991 | A | G,T |
| rs2476601 | 25119822 | 26191 | PTPN22 | umls:C0040100 | BeFree | DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholine receptor, AChR-MG), 53 with Abs to muscle-specific kinase (MuSK-MG), 55 patients with no detectable Abs (SN-MG), 77 patients with thymoma (TAMG) and 293 healthy controls (HC) were genotyped for the SNP (PTPN22 R620W, C1858T, rs2476601). | 0.005905708 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 25119822 | 27335 | EIF3K | umls:C0040100 | BeFree | DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholine receptor, AChR-MG), 53 with Abs to muscle-specific kinase (MuSK-MG), 55 patients with no detectable Abs (SN-MG), 77 patients with thymoma (TAMG) and 293 healthy controls (HC) were genotyped for the SNP (PTPN22 R620W, C1858T, rs2476601). | 0.000271442 | 2014 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs733618 | 25003519 | 1493 | CTLA4 | umls:C0040100 | BeFree | A predisposing effect of rs1863800*C, rs733618*C, and rs231775*G of CTLA4 gene to general risk of MG in Chinese was demonstrated for the first time, which was likely derived from EOMG, SPMG, MG without thymoma and the female patients. | 0.004624443 | 2014 | CTLA4 | 2 | 203866221 | T | C |
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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002585 | Abnormality of the peritoneum | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0002103 | Abnormality of the pleura | MP:0008151 | increased diameter of long bones | increased width of the cross-sectional distance that extends from one lateral edge of a long bone, through its center and to the opposite lateral edge |
| HP:0006530 | Interstitial pulmonary disease | MP:0002295 | abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
| HP:0004313 | Decreased antibody level in blood | MP:0011460 | decreased urine chloride ion level | abnormally low amounts of chloride ion in the urine |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
| HP:0003473 | Fatigable weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0010976 | B lymphocytopenia | MP:0010229 | increased transitional stage T3 B cell number | greater number of a type of a transitional stage B cell that expresses surface IgM and IgD, and CD62L; it is an anergic B cell that does not proliferate upon BCR signaling, is found in the spleen and lymph nodes, and has the phenotype surface IgM-positive |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001876 | Pancytopenia | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002585 | Abnormality of the peritoneum | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0045026 | Abnormality of the mediastinum | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0002103 | Abnormality of the pleura | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010976 | B lymphocytopenia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001097 | Keratoconjunctivitis sicca | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| 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:0001701 | Pericarditis | MP:0011405 | tubulointerstitial nephritis | diffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease |
| HP:0100646 | Thyroiditis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0000651 | Diplopia | 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: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 |
| 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:0100614 | Myositis | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0006530 | Interstitial pulmonary disease | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| HP:0004313 | Decreased antibody level in blood | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000100 | Nephrotic syndrome | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| 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:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000217 | Xerostomia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001596 | Alopecia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 511 |
|---|---|
| Disease | thymoma |
| Case | (Waiting for update.) |