PedAM

Pediatric Disease Annotations & Medicines


	thymoma

Disease ID	223
Disease	thymoma
Definition	A neoplasm originating from thymic tissue, usually benign, and frequently encapsulated. Although it is occasionally invasive, metastases are extremely rare. It consists of any type of thymic epithelial cell as well as lymphocytes that are usually abundant. Malignant lymphomas that involve the thymus, e.g., lymphosarcoma, Hodgkin's disease (previously termed granulomatous thymoma), should not be regarded as thymoma. (From Stedman, 25th ed)
Synonym	[m]thymoma nos [m]thymoma nos (morphologic abnormality) thymoma (disorder) thymoma (morphologic abnormality) thymoma [disease/finding] thymoma, no icd-o subtype thymoma, no icd-o subtype (morphologic abnormality) thymoma, no international classification of diseases for oncology subtype thymoma, no international classification of diseases for oncology subtype (morphologic abnormality) thymomas
Orphanet	ORPHANET:99867
DOID	DOID:3275
UMLS	C0040100
MeSH	D013945
SNOMED-CT	SNOMEDCT_US_2016_09_01:444231005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:66) C0026896 \| myasthenia gravis \| 61 C0281963 \| red cell aplasia \| 8 C0034902 \| pure red cell aplasia \| 8 C0021053 \| immune disease \| 6 C0021053 \| immune disorder \| 6 C0021053 \| immune disorders \| 5 C0014038 \| encephalitis \| 5 C0027059 \| myocarditis \| 4 C0040053 \| thrombus \| 3 C0205969 \| thymic carcinoma \| 3 C0151468 \| thyroid adenoma \| 3 C0153676 \| pulmonary metastasis \| 3 C0030807 \| pemphigus \| 3 C0262587 \| parathyroid adenoma \| 3 C0031039 \| pericardial effusion \| 2 C0241910 \| autoimmune hepatitis \| 2 C0011603 \| dermatitis \| 2 C0022972 \| myasthenic syndrome \| 2 C0019158 \| hepatitis \| 2 C0022972 \| lambert-eaton myasthenic syndrome \| 2 C0031048 \| constrictive pericarditis \| 2 C0409974 \| lupus erythematosus \| 2 C0001430 \| adenoma \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0002170 \| alopecia \| 2 C0085292 \| stiff-person syndrome \| 2 C0751552 \| thymic cancer \| 1 C0023646 \| lichen planus \| 1 C0206754 \| neuroendocrine tumor \| 1 C0018801 \| heart failure \| 1 C0008370 \| cholestasis \| 1 C0002878 \| hemolytic anemia \| 1 C0027121 \| myositis \| 1 C0242287 \| isaac's syndrome \| 1 C0035309 \| retinopathy \| 1 C0007137 \| squamous cell carcinoma \| 1 C0242379 \| lung cancer \| 1 C0221027 \| good's syndrome \| 1 C0027726 \| nephrotic syndrome \| 1 C0030312 \| pancytopenia \| 1 C0040034 \| thrombocytopenia \| 1 C1333375 \| ectopic thymus \| 1 C0007177 \| cardiac tamponade \| 1 C0041296 \| tuberculosis \| 1 C0494165 \| liver metastases \| 1 C0549473 \| thyroid carcinoma \| 1 C0024299 \| lymphoma \| 1 C0153676 \| lung metastases \| 1 C0021831 \| enteropathy \| 1 C0002171 \| alopecia areata \| 1 C0040100 \| thymoma \| 1 C0040188 \| tic disorders \| 1 C0007115 \| thyroid ca \| 1 C0220650 \| brain metastasis \| 1 C0014742 \| erythema multiforme \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0205642 \| oncocytic carcinoma \| 1 C0221027 \| good syndrome \| 1 C0085084 \| motor neuron disease \| 1 C0175695 \| sotos syndrome \| 1 C0002871 \| anemia \| 1 C0002874 \| aplastic anemia \| 1 C0024312 \| lymphocytopenia \| 1 C0032285 \| pneumonia \| 1 C0020550 \| hyperthyroidism \| 1 C0030421 \| paraganglioma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) BAP1 \| 8314 \| CTD_human TP53 \| 7157 \| CTD_human PBRM1 \| 55193 \| CTD_human CDKN2A \| 1029 \| CTD_human CYLD \| 1540 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:317) 400500 \| BCAR4 \| DISEASES 920 \| CD4 \| DISEASES 2767 \| GNA11 \| DISEASES 7145 \| TNS1 \| DISEASES 4335 \| MNT \| DISEASES 10081 \| PDCD7 \| DISEASES 1943 \| EFNA2 \| DISEASES 4320 \| MMP11 \| DISEASES 5594 \| MAPK1 \| DISEASES 25776 \| CBY1 \| DISEASES 10454 \| TAB1 \| DISEASES 1113 \| CHGA \| DISEASES 57167 \| SALL4 \| DISEASES 1917 \| EEF1A2 \| DISEASES 57761 \| TRIB3 \| DISEASES 2553 \| GABPB1 \| DISEASES 7038 \| TG \| DISEASES 27294 \| DHDH \| DISEASES 973 \| CD79A \| DISEASES 1048 \| CEACAM5 \| DISEASES 5296 \| PIK3R2 \| DISEASES 6119 \| RPA3 \| DISEASES 1440 \| CSF3 \| DISEASES 6198 \| RPS6KB1 \| DISEASES 51225 \| ABI3 \| DISEASES 8456 \| FOXN1 \| DISEASES 952 \| CD38 \| DISEASES 3558 \| IL2 \| DISEASES 595 \| CCND1 \| DISEASES 969 \| CD69 \| DISEASES 4633 \| MYL2 \| DISEASES 4256 \| MGP \| DISEASES 3458 \| IFNG \| DISEASES 2597 \| GAPDH \| DISEASES 2026 \| ENO2 \| DISEASES 3945 \| LDHB \| DISEASES 10279 \| PRSS16 \| DISEASES 3003 \| GZMK \| DISEASES 3565 \| IL4 \| DISEASES 3567 \| IL5 \| DISEASES 2908 \| NR3C1 \| DISEASES 7841 \| MOGS \| DISEASES 3554 \| IL1R1 \| DISEASES 5341 \| PLEK \| DISEASES 6402 \| SELL \| DISEASES 2703 \| GJA8 \| DISEASES 6745 \| SSR1 \| DISEASES 11034 \| DSTN \| DISEASES 3860 \| KRT13 \| DISEASES 4974 \| OMG \| DISEASES 3630 \| INS \| DISEASES 3852 \| KRT5 \| DISEASES 83483 \| PLVAP \| DISEASES 23473 \| CAPN7 \| DISEASES 3845 \| KRAS \| DISEASES 1830 \| DSG3 \| DISEASES 1828 \| DSG1 \| DISEASES 10677 \| AVIL \| DISEASES 1144 \| CHRND \| DISEASES 4836 \| NMT1 \| DISEASES 5998 \| RGS3 \| DISEASES 255488 \| RNF144B \| DISEASES 51050 \| PI15 \| DISEASES 2660 \| MSTN \| DISEASES 6857 \| SYT1 \| DISEASES 23216 \| TBC1D1 \| DISEASES 23678 \| SGK3 \| DISEASES 4025 \| LPO \| DISEASES 64788 \| LMF1 \| DISEASES 2769 \| GNA15 \| DISEASES 5595 \| MAPK3 \| DISEASES 5264 \| PHYH \| DISEASES 6855 \| SYP \| DISEASES 3552 \| IL1A \| DISEASES 3553 \| IL1B \| DISEASES 7301 \| TYRO3 \| DISEASES 10000 \| AKT3 \| DISEASES 943 \| TNFRSF8 \| DISEASES 5290 \| PIK3CA \| DISEASES 941 \| CD80 \| DISEASES 590 \| BCHE \| DISEASES 5593 \| PRKG2 \| DISEASES 6774 \| STAT3 \| DISEASES 5443 \| POMC \| DISEASES 10891 \| PPARGC1A \| DISEASES 1950 \| EGF \| DISEASES 29999 \| FSCN3 \| DISEASES 5286 \| PIK3C2A \| DISEASES 23598 \| PATZ1 \| DISEASES 55089 \| SLC38A4 \| DISEASES 2065 \| ERBB3 \| DISEASES 3480 \| IGF1R \| DISEASES 28987 \| NOB1 \| DISEASES 10140 \| TOB1 \| DISEASES 7157 \| TP53 \| DISEASES 2064 \| ERBB2 \| DISEASES 207 \| AKT1 \| DISEASES 83442 \| SH3BGRL3 \| DISEASES 2840 \| GPR17 \| DISEASES 1956 \| EGFR \| DISEASES 3439 \| IFNA1 \| DISEASES 4851 \| NOTCH1 \| DISEASES 9219 \| MTA2 \| DISEASES 932 \| MS4A3 \| DISEASES 4319 \| MMP10 \| DISEASES 5805 \| PTS \| DISEASES 3742 \| KCNA6 \| DISEASES 7292 \| TNFSF4 \| DISEASES 925 \| CD8A \| DISEASES 7070 \| THY1 \| DISEASES 25890 \| ABI3BP \| DISEASES 9601 \| PDIA4 \| DISEASES 10563 \| CXCL13 \| DISEASES 6750 \| SST \| DISEASES 5468 \| PPARG \| DISEASES 3815 \| KIT \| DISEASES 673 \| BRAF \| DISEASES 56896 \| DPYSL5 \| DISEASES 56683 \| C21orf59 \| DISEASES 326 \| AIRE \| DISEASES 643 \| CXCR5 \| DISEASES 51043 \| ZBTB7B \| DISEASES 10630 \| PDPN \| DISEASES 251 \| ALPPL2 \| DISEASES 94234 \| FOXQ1 \| DISEASES 1437 \| CSF2 \| DISEASES 5913 \| RAPSN \| DISEASES 6786 \| STIM1 \| DISEASES 55720 \| TSR1 \| DISEASES 2125 \| EVPL \| DISEASES 133418 \| EMB \| DISEASES 5604 \| MAP2K1 \| DISEASES 3479 \| IGF1 \| DISEASES 1493 \| CTLA4 \| DISEASES 3667 \| IRS1 \| DISEASES 4086 \| SMAD1 \| DISEASES 3575 \| IL7R \| DISEASES 2353 \| FOS \| DISEASES 23261 \| CAMTA1 \| DISEASES 3037 \| HAS2 \| DISEASES 9451 \| EIF2AK3 \| DISEASES 794 \| CALB2 \| DISEASES 27087 \| B3GAT1 \| DISEASES 1938 \| EEF2 \| DISEASES 27289 \| RND1 \| DISEASES 25992 \| SNED1 \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 8061 \| FOSL1 \| DISEASES 84868 \| HAVCR2 \| DISEASES 924 \| CD7 \| DISEASES 10009 \| ZBTB33 \| DISEASES 3556 \| IL1RAP \| DISEASES 4261 \| CIITA \| DISEASES 1604 \| CD55 \| DISEASES 6517 \| SLC2A4 \| DISEASES 9242 \| MSC \| DISEASES 1400 \| CRMP1 \| DISEASES 8875 \| VNN2 \| DISEASES 940 \| CD28 \| DISEASES 222256 \| CDHR3 \| DISEASES 10250 \| SRRM1 \| DISEASES 22801 \| ITGA11 \| DISEASES 3739 \| KCNA4 \| DISEASES 3855 \| KRT7 \| DISEASES 596 \| BCL2 \| DISEASES 6656 \| SOX1 \| DISEASES 796 \| CALCA \| DISEASES 942 \| CD86 \| DISEASES 113179 \| ADAT3 \| DISEASES 90249 \| UNC5A \| DISEASES 256933 \| NPB \| DISEASES 5787 \| PTPRB \| DISEASES 957 \| ENTPD5 \| DISEASES 4221 \| MEN1 \| DISEASES 327657 \| SERPINA9 \| DISEASES 112744 \| IL17F \| DISEASES 3932 \| LCK \| DISEASES 23583 \| SMUG1 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 10570 \| DPYSL4 \| DISEASES 4602 \| MYB \| DISEASES 5493 \| PPL \| DISEASES 1978 \| EIF4EBP1 \| DISEASES 5764 \| PTN \| DISEASES 7818 \| DAP3 \| DISEASES 921 \| CD5 \| DISEASES 7273 \| TTN \| DISEASES 3605 \| IL17A \| DISEASES 5170 \| PDPK1 \| DISEASES 285489 \| DOK7 \| DISEASES 1499 \| CTNNB1 \| DISEASES 5757 \| PTMA \| DISEASES 92737 \| DNER \| DISEASES 80142 \| PTGES2 \| DISEASES 1798 \| DPAGT1 \| DISEASES 1399 \| CRKL \| DISEASES 2534 \| FYN \| DISEASES 7080 \| NKX2-1 \| DISEASES 2202 \| EFEMP1 \| DISEASES 5879 \| RAC1 \| DISEASES 10146 \| G3BP1 \| DISEASES 273 \| AMPH \| DISEASES 23035 \| PHLPP2 \| DISEASES 11148 \| HHLA2 \| DISEASES 6714 \| SRC \| DISEASES 2526 \| FUT4 \| DISEASES 5294 \| PIK3CG \| DISEASES 6261 \| RYR1 \| DISEASES 26191 \| PTPN22 \| DISEASES 4151 \| MB \| DISEASES 7037 \| TFRC \| DISEASES 6693 \| SPN \| DISEASES 5599 \| MAPK8 \| DISEASES 4311 \| MME \| DISEASES 26580 \| BSCL2 \| DISEASES 2475 \| MTOR \| DISEASES 26047 \| CNTNAP2 \| DISEASES 919 \| CD247 \| DISEASES 51603 \| METTL13 \| DISEASES 3880 \| KRT19 \| DISEASES 1380 \| CR2 \| DISEASES 6993 \| DYNLT1 \| DISEASES 4194 \| MDM4 \| DISEASES 127833 \| SYT2 \| DISEASES 5788 \| PTPRC \| DISEASES 8876 \| VNN1 \| DISEASES 962 \| CD48 \| DISEASES 7062 \| TCHH \| DISEASES 4942 \| OAT \| DISEASES 84816 \| RTN4IP1 \| DISEASES 8349 \| HIST2H2BE \| DISEASES 914 \| CD2 \| DISEASES 965 \| CD58 \| DISEASES 4893 \| NRAS \| DISEASES 1137 \| CHRNA4 \| DISEASES 959 \| CD40LG \| DISEASES 128602 \| C20orf85 \| DISEASES 1791 \| DNTT \| DISEASES 4774 \| NFIA \| DISEASES 3725 \| JUN \| DISEASES 5563 \| PRKAA2 \| DISEASES 9211 \| LGI1 \| DISEASES 10555 \| AGPAT2 \| DISEASES 51727 \| CMPK1 \| DISEASES 5728 \| PTEN \| DISEASES 7422 \| VEGFA \| DISEASES 958 \| CD40 \| DISEASES 29935 \| RPA4 \| DISEASES 23787 \| MTCH1 \| DISEASES 4593 \| MUSK \| DISEASES 8660 \| IRS2 \| DISEASES 50943 \| FOXP3 \| DISEASES 8428 \| STK24 \| DISEASES 3133 \| HLA-E \| DISEASES 3105 \| HLA-A \| DISEASES 29914 \| UBIAD1 \| DISEASES 1325 \| CORT \| DISEASES 9882 \| TBC1D4 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 4609 \| MYC \| DISEASES 79026 \| AHNAK \| DISEASES 4038 \| LRP4 \| DISEASES 64225 \| ATL2 \| DISEASES 7293 \| TNFRSF4 \| DISEASES 375790 \| AGRN \| DISEASES 2308 \| FOXO1 \| DISEASES 7222 \| TRPC3 \| DISEASES 9912 \| ARHGAP44 \| DISEASES 3559 \| IL2RA \| DISEASES 54790 \| TET2 \| DISEASES 551 \| AVP \| DISEASES 5786 \| PTPRA \| DISEASES 7114 \| TMSB4X \| DISEASES 5884 \| RAD17 \| DISEASES 4267 \| CD99 \| DISEASES 29126 \| CD274 \| DISEASES 192668 \| CYS1 \| DISEASES 752014 \| CEMP1 \| DISEASES 10232 \| MSLN \| DISEASES 361 \| AQP4 \| DISEASES 8292 \| COLQ \| DISEASES 1146 \| CHRNG \| DISEASES 57634 \| EP400 \| DISEASES 208 \| AKT2 \| DISEASES 2113 \| ETS1 \| DISEASES 5803 \| PTPRZ1 \| DISEASES 517 \| ATP5G2 \| DISEASES 831 \| CAST \| DISEASES 4773 \| NFATC2 \| DISEASES 8576 \| STK16 \| DISEASES 100134934 \| TEN1 \| DISEASES 346562 \| GNAT3 \| DISEASES 54826 \| GIN1 \| DISEASES 122706 \| PSMB11 \| DISEASES 81542 \| TMX1 \| DISEASES 7849 \| PAX8 \| DISEASES 50863 \| NTM \| DISEASES 960 \| CD44 \| DISEASES 7124 \| TNF \| DISEASES 9351 \| SLC9A3R2 \| DISEASES 3586 \| IL10 \| DISEASES 6513 \| SLC2A1 \| DISEASES 143662 \| MUC15 \| DISEASES 5890 \| RAD51B \| DISEASES 257144 \| GCSAM \| DISEASES 30816 \| ERVW-1 \| DISEASES 6949 \| TCOF1 \| DISEASES 51428 \| DDX41 \| DISEASES 23303 \| KIF13B \| DISEASES 10687 \| PNMA2 \| DISEASES 57451 \| TENM2 \| DISEASES 727897 \| MUC5B \| DISEASES 930 \| CD19 \| DISEASES 57119 \| EPPIN \| DISEASES 820 \| CAMP \| DISEASES 103164619 \| PCAT2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	223
Disease	thymoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:30) HP:0012735 \| Cough HP:0000988 \| Skin rash HP:0002015 \| Dysphagia HP:0003473 \| Fatigable weakness HP:0002103 \| Abnormality of the pleura HP:0045026 \| Abnormality of the mediastinum HP:0006530 \| Interstitial pulmonary disease HP:0002716 \| Lymphadenopathy HP:0010976 \| B lymphocytopenia HP:0001878 \| Hemolytic anemia HP:0001596 \| Alopecia HP:0100646 \| Thyroiditis HP:0004313 \| Decreased antibody level in blood HP:0004332 \| Abnormality of lymphocytes HP:0100614 \| Myositis HP:0001876 \| Pancytopenia HP:0000508 \| Ptosis HP:0002094 \| Dyspnea HP:0100749 \| Chest pain HP:0000217 \| Xerostomia HP:0000100 \| Nephrotic syndrome HP:0012378 \| Fatigue HP:0001376 \| Limitation of joint mobility HP:0001369 \| Arthritis HP:0001701 \| Pericarditis HP:0000651 \| Diplopia HP:0100521 \| Neoplasm of the thymus HP:0012819 \| Myocarditis HP:0001097 \| Keratoconjunctivitis sicca HP:0002585 \| Abnormality of the peritoneum
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:59) HP:0003473 \| Fatigable weakness \| 60 HP:0002960 \| Autoimmune condition \| 13 HP:0002664 \| Neoplasia \| 11 HP:0002721 \| Immunodeficiency \| 10 HP:0012410 \| Pure red cell aplasia \| 8 HP:0030731 \| Carcinoma \| 5 HP:0002383 \| Encephalitis \| 5 HP:0012819 \| Myocarditis \| 4 HP:0004313 \| Decreased immunoglobulin level \| 4 HP:0002897 \| Parathyroid adenoma \| 3 HP:0000854 \| Thyroid adenoma \| 3 HP:0100749 \| Thoracic pain \| 3 HP:0001698 \| Pericardial effusions \| 2 HP:0100033 \| Tic disorder \| 2 HP:0030210 \| Anti-MUSK antibodies \| 2 HP:0012531 \| Pain \| 2 HP:0001596 \| Hair loss \| 2 HP:0002835 \| Aspiration \| 2 HP:0002563 \| Constrictive pericarditis \| 2 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0012115 \| Liver inflammation \| 2 HP:0100827 \| Lymphocytosis \| 2 HP:0010783 \| Erythema \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0001888 \| Lymphocytopenia \| 1 HP:0002229 \| Alopecia areata \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0002375 \| Decreased spontaneous movement \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0012020 \| Right aortic arch \| 1 HP:0001289 \| Confusion \| 1 HP:0002665 \| Lymphoma \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0001904 \| Autoimmune neutropenia \| 1 HP:0005387 \| Combined immunodeficiency \| 1 HP:0002890 \| Thyroid carcinoma \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0012735 \| Coughing \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0000836 \| Overactive thyroid \| 1 HP:0002090 \| Pneumonia \| 1 HP:0000100 \| Nephrosis \| 1 HP:0001903 \| Anemia \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0002063 \| Muscle rigidity \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0001945 \| Fever \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0003470 \| Inability to move \| 1 HP:0002719 \| infections, recurrent \| 1 HP:0002242 \| Enteropathy \| 1 HP:0001396 \| Cholestasis \| 1 HP:0100522 \| Thymoma \| 1 HP:0100614 \| Muscle inflammation \| 1

Disease ID	223
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 \| 56 C0021051 \| immunodeficiency \| 10 C0034902 \| pure red cell aplasia \| 8 C0281963 \| red cell aplasia \| 8 C0004364 \| autoimmune disease \| 5 C0014038 \| encephalitis \| 5 C0338430 \| limbic encephalitis \| 4 C0086438 \| hypogammaglobulinemia \| 4 C0030472 \| paraneoplastic syndrome \| 3 C0021311 \| infections \| 2 C0030472 \| paraneoplastic syndromes \| 2 C0085292 \| stiff-person syndrome \| 2 C0024282 \| lymphocytosis \| 2 C0398581 \| t-cell lymphocytosis \| 2 C0027126 \| myotonic dystrophy \| 1 C0086438 \| hypogammaglobulinaemia \| 1 C0002878 \| hemolytic anemia \| 1 C0263313 \| pemphigus foliaceus \| 1 C0004364 \| autoimmune diseases \| 1 C0027121 \| myositis \| 1 C0030312 \| pancytopenia \| 1 C0027726 \| nephrotic syndrome \| 1 C0023646 \| lichen planus \| 1 C0002871 \| anemia \| 1 C0002874 \| aplastic anemia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(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 rs1863800C, rs733618C, 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 rs1863800C, rs733618C, 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 rs1863800C, rs733618C, 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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0040100	octreotide	D015282	83150-76-9	thymoma	MESH:D013945	therapeutic	10509161

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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