PedAM

Pediatric Disease Annotations & Medicines


	myelodysplastic syndrome

Disease ID	54
Disease	myelodysplastic syndrome
Definition	Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
Synonym	[m]myelodysplastic syndrome [x]myelodysplastic syndrome, unspecified [x]myelodysplastic syndrome, unspecified (disorder) dysmyelopoiesis dysmyelopoietic syndrome dysmyelopoietic syndromes hematopoeitic - myelodysplastic syndrome (mds) mds - myelodysplastic syndrome myelodysplasia (disorder) myelodysplastic neoplasm myelodysplastic synd nos myelodysplastic syndrome (clinical) myelodysplastic syndrome (disorder) myelodysplastic syndrome (morphologic abnormality) myelodysplastic syndrome (morphology) myelodysplastic syndrome (morphology) -retired- myelodysplastic syndrome, nos myelodysplastic syndrome, unspecified myelodysplastic syndrome/neoplasm myelodysplastic syndromes myelodysplastic syndromes [disease/finding] oligoblastic leukemia preleukaemia preleukaemic syndrome preleukemic syndrome smouldering leukaemia syndrome, dysmyelopoietic syndrome, myelodysplastic syndromes, dysmyelopoietic syndromes, myelodysplastic
Orphanet	ORPHANET:52688
OMIM	OMIM:614286
DOID	DOID:0050908
ICD10	ICD10CM:D46.9
UMLS	C3463824
MeSH	D009190
SNOMED-CT	SNOMEDCT_US_2016_09_01:109995007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:128) C0002871 \| anemia \| 35 C0023418 \| leukemia \| 25 C0023467 \| acute myeloid leukemia \| 19 C0282193 \| iron overload \| 19 C0023470 \| myeloid leukemia \| 17 C0040034 \| thrombocytopenia \| 11 C0004943 \| behcet's disease \| 7 C0001815 \| myelofibrosis \| 6 C0027947 \| neutropenia \| 6 C0001815 \| bone marrow fibrosis \| 4 C0030312 \| bone marrow failure \| 4 C0002878 \| hemolytic anemia \| 3 C0042384 \| vasculitis \| 3 C0024299 \| lymphoma \| 3 C0034212 \| pyoderma \| 2 C0040053 \| thrombosis \| 2 C0281963 \| red cell aplasia \| 2 C0023473 \| chronic myelogenous leukemia \| 2 C0152276 \| myeloid sarcoma \| 2 C0034902 \| pure red cell aplasia \| 2 C0030312 \| pancytopenia \| 2 C0002880 \| autoimmune hemolytic anemia \| 2 C1261473 \| sarcoma \| 2 C0024623 \| gastric cancer \| 2 C0836924 \| thrombocytosis \| 2 C0085652 \| pyoderma gangrenosum \| 2 C0023473 \| chronic myeloid leukemia \| 2 C0015625 \| fanconi anemia \| 2 C0002871 \| anaemia \| 2 C0021053 \| immune disease \| 2 C1619734 \| pulmonary arterial hypertension \| 1 C1136085 \| monoclonal gammopathy \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0023473 \| chronic myelogenous leukemia (cml) \| 1 C0023470 \| myelogenous leukemia \| 1 C0032285 \| pneumonia \| 1 C0598894 \| monocytic leukemia \| 1 C0003864 \| arthritis \| 1 C0023524 \| progressive multifocal leukoencephalopathy \| 1 C0242379 \| lung cancer \| 1 C0007570 \| celiac disease \| 1 C0334579 \| anaplastic astrocytoma \| 1 C0085669 \| acute leukaemia \| 1 C0030305 \| pancreatitis \| 1 C0003507 \| aortic stenosis \| 1 C0018801 \| heart failure \| 1 C0009326 \| rheumatologic disorder \| 1 C0039730 \| thalassemia \| 1 C0206180 \| anaplastic large cell lymphoma \| 1 C1704214 \| xanthogranuloma \| 1 C0009319 \| colitis \| 1 C0009324 \| ulcerative colitis \| 1 C0039445 \| osler-weber-rendu disease \| 1 C0007134 \| renal cell carcinoma \| 1 C0013080 \| g trisomy \| 1 C0010068 \| coronary heart disease \| 1 C0409974 \| lupus erythematosus \| 1 C0026985 \| myelodysplasia \| 1 C0022572 \| keratoacanthomas \| 1 C0029134 \| optic neuritis \| 1 C0042769 \| viral infection \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria (pnh) \| 1 C0042769 \| virus infection \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0004114 \| astrocytoma \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0019048 \| hemoglobinuria \| 1 C0007642 \| cellulitis \| 1 C0079731 \| b-cell lymphoma \| 1 C0026718 \| mucormycosis \| 1 C0002895 \| sickle cell anemia \| 1 C0021053 \| immune disorders \| 1 C0009402 \| colorectal cancer \| 1 C0026986 \| myelodysplastic syndromes \| 1 C0021053 \| immune disorder \| 1 C0024299 \| lymphomas \| 1 C1704436 \| peripheral arterial disease \| 1 C0034050 \| pulmonary alveolar proteinosis \| 1 C0270612 \| leukoencephalopathy \| 1 C0001824 \| agranulocytosis \| 1 C0003864 \| inflammatory arthritis \| 1 C0027813 \| neuritis \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0019045 \| hemoglobin disorders \| 1 C0018995 \| hemochromatosis \| 1 C0023448 \| lymphocytic leukemia \| 1 C0019158 \| hepatitis \| 1 C0004096 \| asthma \| 1 C0085293 \| hepatitis e \| 1 C0010346 \| crohn's disease \| 1 C0002896 \| sideroblastic anemia \| 1 C0030326 \| panniculitis \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0014084 \| ollier's disease \| 1 C0034050 \| alveolar proteinosis \| 1 C0019069 \| hemophilia \| 1 C0001815 \| myeloid metaplasia \| 1 C0162568 \| protoporphyria \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 1 C0007113 \| rectal cancer \| 1 C0376545 \| hematologic malignancies \| 1 C0024302 \| large cell lymphoma \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0032285 \| pneumonitis \| 1 C0687720 \| central diabetes insipidus \| 1 C0042769 \| viral infections \| 1 C0036202 \| sarcoidosis \| 1 C0349530 \| early gastric cancer \| 1 C0011603 \| dermatitis \| 1 C0020538 \| hypertension \| 1 C0019621 \| langerhans cell histiocytosis \| 1 C0027022 \| myeloproliferative neoplasms \| 1 C0025309 \| meningoencephalitis \| 1 C0031046 \| pericarditis \| 1 C0376545 \| hematological malignancy \| 1 C0011848 \| diabetes insipidus \| 1 C0085576 \| microcytic anemia \| 1 C0006309 \| brucellosis \| 1 C0008354 \| vibrio cholerae \| 1 C0085669 \| acute leukemia \| 1 C0011847 \| diabetes \| 1 C0018799 \| heart disease \| 1 C0852949 \| arterial disease \| 1 C0008625 \| chromosomal abnormality \| 1 C0740302 \| 5q- syndrome \| 1 C0162568 \| erythropoietic protoporphyria \| 1 C0011633 \| dermatomyositis \| 1 C0079731 \| b-cell lymphomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:19) GATA2 \| 2624 \| CTD_human;ORPHANET;UNIPROT EZH2 \| 2146 \| CTD_human MYC \| 4609 \| CTD_human SETBP1 \| 26040 \| UNIPROT TET2 \| 54790 \| CTD_human HFE \| 3077 \| CTD_human U2AF1 \| 7307 \| CTD_human SMPD3 \| 55512 \| CTD_human EPO \| 2056 \| CTD_human ATRX \| 546 \| CTD_human PLCB1 \| 23236 \| CTD_human MECOM \| 2122 \| ORPHANET DLK1 \| 8788 \| CTD_human DAPK1 \| 1612 \| CTD_human CDKN2B \| 1030 \| CTD_human CFLAR \| 8837 \| CTD_human CTNNA1 \| 1495 \| CTD_human LYL1 \| 4066 \| CTD_human SPHK1 \| 8877 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:17) 1436 \| CSF1R \| infer 2944 \| GSTM1 \| infer 2952 \| GSTT1 \| infer 3123 \| HLA-DRB1 \| infer 4512 \| MT-CO1 \| infer 4513 \| MT-CO2 \| infer 1728 \| NQO1 \| infer 7157 \| TP53 \| infer 1557 \| CYP2C19 \| infer 1576 \| CYP3A4 \| infer 2068 \| ERCC2 \| infer 2938 \| GSTA1 \| infer 2950 \| GSTP1 \| infer 10456 \| HAX1 \| infer 5888 \| RAD51 \| infer 54790 \| TET2 \| infer 7517 \| XRCC3 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:434) 3475 \| IFRD1 \| DISEASES 4830 \| NME1 \| DISEASES 933 \| CD22 \| DISEASES 8621 \| CDK13 \| DISEASES 8550 \| MAPKAPK5 \| DISEASES 8079 \| MLF2 \| DISEASES 7066 \| THPO \| DISEASES 1053 \| CEBPE \| DISEASES 10291 \| SF3A1 \| DISEASES 638 \| BIK \| DISEASES 9978 \| RBX1 \| DISEASES 3002 \| GZMB \| DISEASES 6790 \| AURKA \| DISEASES 57167 \| SALL4 \| DISEASES 10735 \| STAG2 \| DISEASES 63035 \| BCORL1 \| DISEASES 55512 \| SMPD3 \| DISEASES 4833 \| NME4 \| DISEASES 10273 \| STUB1 \| DISEASES 11339 \| OIP5 \| DISEASES 973 \| CD79A \| DISEASES 2057 \| EPOR \| DISEASES 57817 \| HAMP \| DISEASES 4353 \| MPO \| DISEASES 1440 \| CSF3 \| DISEASES 51003 \| MED31 \| DISEASES 29098 \| RANGRF \| DISEASES 952 \| CD38 \| DISEASES 3558 \| IL2 \| DISEASES 6688 \| SPI1 \| DISEASES 4254 \| KITLG \| DISEASES 3458 \| IFNG \| DISEASES 6678 \| SPARC \| DISEASES 5917 \| RARS \| DISEASES 51185 \| CRBN \| DISEASES 84759 \| PCGF1 \| DISEASES 7799 \| PRDM2 \| DISEASES 134637 \| ADAT2 \| DISEASES 1958 \| EGR1 \| DISEASES 79887 \| PLBD1 \| DISEASES 2322 \| FLT3 \| DISEASES 3204 \| HOXA7 \| DISEASES 206358 \| SLC36A1 \| DISEASES 1088 \| CEACAM8 \| DISEASES 3659 \| IRF1 \| DISEASES 57187 \| THOC2 \| DISEASES 7389 \| UROD \| DISEASES 51119 \| SBDS \| DISEASES 2952 \| GSTT1 \| DISEASES 5880 \| RAC2 \| DISEASES 968 \| CD68 \| DISEASES 2056 \| EPO \| DISEASES 10095 \| ARPC1B \| DISEASES 22 \| ABCB7 \| DISEASES 5914 \| RARA \| DISEASES 23135 \| KDM6B \| DISEASES 28992 \| MACROD1 \| DISEASES 85004 \| RERG \| DISEASES 26519 \| TIMM10 \| DISEASES 5156 \| PDGFRA \| DISEASES 4907 \| NT5E \| DISEASES 3569 \| IL6 \| DISEASES 2995 \| GYPC \| DISEASES 8870 \| IER3 \| DISEASES 10017 \| BCL2L10 \| DISEASES 57520 \| HECW2 \| DISEASES 3417 \| IDH1 \| DISEASES 4069 \| LYZ \| DISEASES 5159 \| PDGFRB \| DISEASES 3690 \| ITGB3 \| DISEASES 9172 \| MYOM2 \| DISEASES 945 \| CD33 \| DISEASES 9088 \| PKMYT1 \| DISEASES 1387 \| CREBBP \| DISEASES 3674 \| ITGA2B \| DISEASES 23361 \| ZNF629 \| DISEASES 64377 \| CHST8 \| DISEASES 8178 \| ELL \| DISEASES 25939 \| SAMHD1 \| DISEASES 23523 \| CABIN1 \| DISEASES 3553 \| IL1B \| DISEASES 645 \| BLVRB \| DISEASES 1991 \| ELANE \| DISEASES 79968 \| WDR76 \| DISEASES 3791 \| KDR \| DISEASES 943 \| TNFRSF8 \| DISEASES 867 \| CBL \| DISEASES 4162 \| MCAM \| DISEASES 2208 \| FCER2 \| DISEASES 3589 \| IL11 \| DISEASES 6774 \| STAT3 \| DISEASES 2122 \| MECOM \| DISEASES 1788 \| DNMT3A \| DISEASES 4066 \| LYL1 \| DISEASES 80273 \| GRPEL1 \| DISEASES 10923 \| SUB1 \| DISEASES 7994 \| KAT6A \| DISEASES 11083 \| DIDO1 \| DISEASES 55647 \| RAB20 \| DISEASES 26277 \| TINF2 \| DISEASES 9321 \| TRIP11 \| DISEASES 3687 \| ITGAX \| DISEASES 92579 \| G6PC3 \| DISEASES 7157 \| TP53 \| DISEASES 207 \| AKT1 \| DISEASES 63976 \| PRDM16 \| DISEASES 10733 \| PLK4 \| DISEASES 6233 \| RPS27A \| DISEASES 4211 \| MEIS1 \| DISEASES 54977 \| SLC25A38 \| DISEASES 23092 \| ARHGAP26 \| DISEASES 1030 \| CDKN2B \| DISEASES 3439 \| IFNA1 \| DISEASES 472 \| ATM \| DISEASES 3176 \| HNMT \| DISEASES 23457 \| ABCB9 \| DISEASES 2241 \| FER \| DISEASES 26040 \| SETBP1 \| DISEASES 83734 \| ATG10 \| DISEASES 2321 \| FLT1 \| DISEASES 64946 \| CENPH \| DISEASES 10225 \| CD96 \| DISEASES 64422 \| ATG3 \| DISEASES 124540 \| MSI2 \| DISEASES 83539 \| CHST9 \| DISEASES 7070 \| THY1 \| DISEASES 1436 \| CSF1R \| DISEASES 1633 \| DCK \| DISEASES 27163 \| NAAA \| DISEASES 3815 \| KIT \| DISEASES 26060 \| APPL1 \| DISEASES 5909 \| RAP1GAP \| DISEASES 1487 \| CTBP1 \| DISEASES 7307 \| U2AF1 \| DISEASES 84449 \| ZNF333 \| DISEASES 6777 \| STAT5B \| DISEASES 6006 \| RHCE \| DISEASES 2672 \| GFI1 \| DISEASES 2215 \| FCGR3B \| DISEASES 27306 \| HPGDS \| DISEASES 56983 \| POGLUT1 \| DISEASES 6184 \| RPN1 \| DISEASES 308 \| ANXA5 \| DISEASES 3562 \| IL3 \| DISEASES 1437 \| CSF2 \| DISEASES 4869 \| NPM1 \| DISEASES 3313 \| HSPA9 \| DISEASES 5885 \| RAD21 \| DISEASES 5001 \| ORC5 \| DISEASES 25879 \| DCAF13 \| DISEASES 79698 \| ZMAT4 \| DISEASES 290 \| ANPEP \| DISEASES 5347 \| PLK1 \| DISEASES 861 \| RUNX1 \| DISEASES 1642 \| DDB1 \| DISEASES 598 \| BCL2L1 \| DISEASES 116844 \| LRG1 \| DISEASES 8233 \| ZRSR2 \| DISEASES 3688 \| ITGB1 \| DISEASES 613 \| BCR \| DISEASES 2815 \| GP9 \| DISEASES 51362 \| CDC40 \| DISEASES 171558 \| PTCRA \| DISEASES 1495 \| CTNNA1 \| DISEASES 4330 \| MN1 \| DISEASES 54205 \| CYCS \| DISEASES 11338 \| U2AF2 \| DISEASES 27087 \| B3GAT1 \| DISEASES 10855 \| HPSE \| DISEASES 695 \| BTK \| DISEASES 5778 \| PTPN7 \| DISEASES 7015 \| TERT \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 6208 \| RPS14 \| DISEASES 836 \| CASP3 \| DISEASES 29990 \| PILRB \| DISEASES 64393 \| ZMAT3 \| DISEASES 2944 \| GSTM1 \| DISEASES 84868 \| HAVCR2 \| DISEASES 924 \| CD7 \| DISEASES 8837 \| CFLAR \| DISEASES 80818 \| ZNF436 \| DISEASES 3090 \| HIC1 \| DISEASES 1662 \| DDX10 \| DISEASES 1384 \| CRAT \| DISEASES 4928 \| NUP98 \| DISEASES 1604 \| CD55 \| DISEASES 3291 \| HSD11B2 \| DISEASES 4684 \| NCAM1 \| DISEASES 23786 \| BCL2L13 \| DISEASES 818 \| CAMK2G \| DISEASES 1728 \| NQO1 \| DISEASES 56892 \| C8orf4 \| DISEASES 80381 \| CD276 \| DISEASES 2146 \| EZH2 \| DISEASES 811 \| CALR \| DISEASES 10782 \| ZNF274 \| DISEASES 9920 \| KBTBD11 \| DISEASES 995 \| CDC25C \| DISEASES 2274 \| FHL2 \| DISEASES 8243 \| SMC1A \| DISEASES 165829 \| GPR156 \| DISEASES 9235 \| IL32 \| DISEASES 148266 \| ZNF569 \| DISEASES 56984 \| PSMG2 \| DISEASES 55892 \| MYNN \| DISEASES 219285 \| SAMD9L \| DISEASES 51780 \| KDM3B \| DISEASES 1435 \| CSF1 \| DISEASES 3563 \| IL3RA \| DISEASES 1789 \| DNMT3B \| DISEASES 10456 \| HAX1 \| DISEASES 84295 \| PHF6 \| DISEASES 8651 \| SOCS1 \| DISEASES 7490 \| WT1 \| DISEASES 56001 \| NXF2 \| DISEASES 10320 \| IKZF1 \| DISEASES 6007 \| RHD \| DISEASES 3418 \| IDH2 \| DISEASES 9988 \| DMTF1 \| DISEASES 212 \| ALAS2 \| DISEASES 5813 \| PURA \| DISEASES 25901 \| CCDC28A \| DISEASES 6472 \| SHMT2 \| DISEASES 153201 \| SLC36A2 \| DISEASES 23451 \| SF3B1 \| DISEASES 3802 \| KIR2DL1 \| DISEASES 7095 \| SEC62 \| DISEASES 7189 \| TRAF6 \| DISEASES 7704 \| ZBTB16 \| DISEASES 23236 \| PLCB1 \| DISEASES 6622 \| SNCA \| DISEASES 203068 \| TUBB \| DISEASES 80829 \| ZFP91 \| DISEASES 966 \| CD59 \| DISEASES 8788 \| DLK1 \| DISEASES 5910 \| RAP1GDS1 \| DISEASES 5781 \| PTPN11 \| DISEASES 6776 \| STAT5A \| DISEASES 3720 \| JARID2 \| DISEASES 10383 \| TUBB4B \| DISEASES 4306 \| NR3C2 \| DISEASES 10827 \| FAM114A2 \| DISEASES 51513 \| ETV7 \| DISEASES 2272 \| FHIT \| DISEASES 6731 \| SRP72 \| DISEASES 3804 \| KIR2DL3 \| DISEASES 921 \| CD5 \| DISEASES 6919 \| TCEA2 \| DISEASES 3205 \| HOXA9 \| DISEASES 10634 \| GAS2L1 \| DISEASES 53827 \| FXYD5 \| DISEASES 22806 \| IKZF3 \| DISEASES 8328 \| GFI1B \| DISEASES 2624 \| GATA2 \| DISEASES 3767 \| KCNJ11 \| DISEASES 2879 \| GPX4 \| DISEASES 5562 \| PRKAA1 \| DISEASES 10533 \| ATG7 \| DISEASES 160364 \| CLEC12A \| DISEASES 355 \| FAS \| DISEASES 51710 \| ZNF44 \| DISEASES 6288 \| SAA1 \| DISEASES 55124 \| PIWIL2 \| DISEASES 3683 \| ITGAL \| DISEASES 3981 \| LIG4 \| DISEASES 5169 \| ENPP3 \| DISEASES 1612 \| DAPK1 \| DISEASES 4763 \| NF1 \| DISEASES 285527 \| FRYL \| DISEASES 841 \| CASP8 \| DISEASES 2526 \| FUT4 \| DISEASES 3821 \| KLRC1 \| DISEASES 8021 \| NUP214 \| DISEASES 1786 \| DNMT1 \| DISEASES 6427 \| SRSF2 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 7037 \| TFRC \| DISEASES 6693 \| SPN \| DISEASES 4311 \| MME \| DISEASES 2993 \| GYPA \| DISEASES 6533 \| SLC6A6 \| DISEASES 7150 \| TOP1 \| DISEASES 92610 \| TIFA \| DISEASES 1378 \| CR1 \| DISEASES 5788 \| PTPRC \| DISEASES 6045 \| RNF2 \| DISEASES 7371 \| UCK2 \| DISEASES 2214 \| FCGR3A \| DISEASES 962 \| CD48 \| DISEASES 93183 \| PIGM \| DISEASES 4332 \| MNDA \| DISEASES 7390 \| UROS \| DISEASES 388697 \| HRNR \| DISEASES 81609 \| SNX27 \| DISEASES 10962 \| MLLT11 \| DISEASES 55278 \| QRSL1 \| DISEASES 2209 \| FCGR1A \| DISEASES 914 \| CD2 \| DISEASES 4893 \| NRAS \| DISEASES 1736 \| DKC1 \| DISEASES 4791 \| NFKB2 \| DISEASES 51750 \| RTEL1 \| DISEASES 6125 \| RPL5 \| DISEASES 1147 \| CHUK \| DISEASES 5586 \| PKN2 \| DISEASES 959 \| CD40LG \| DISEASES 5688 \| PSMA7 \| DISEASES 5236 \| PGM1 \| DISEASES 1791 \| DNTT \| DISEASES 860 \| RUNX2 \| DISEASES 128553 \| TSHZ2 \| DISEASES 8813 \| DPM1 \| DISEASES 2030 \| SLC29A1 \| DISEASES 728489 \| DNLZ \| DISEASES 7422 \| VEGFA \| DISEASES 25 \| ABL1 \| DISEASES 4352 \| MPL \| DISEASES 728343 \| NXF2B \| DISEASES 54457 \| TAF7L \| DISEASES 310 \| ANXA7 \| DISEASES 1441 \| CSF3R \| DISEASES 2022 \| ENG \| DISEASES 546 \| ATRX \| DISEASES 2140 \| EYA3 \| DISEASES 9054 \| NFS1 \| DISEASES 1043 \| CD52 \| DISEASES 6135 \| RPL11 \| DISEASES 259283 \| MDS2 \| DISEASES 367 \| AR \| DISEASES 3014 \| H2AFX \| DISEASES 8451 \| CUL4A \| DISEASES 171023 \| ASXL1 \| DISEASES 6850 \| SYK \| DISEASES 22852 \| ANKRD26 \| DISEASES 50943 \| FOXP3 \| DISEASES 3107 \| HLA-C \| DISEASES 648 \| BMI1 \| DISEASES 2623 \| GATA1 \| DISEASES 6839 \| SUV39H1 \| DISEASES 3105 \| HLA-A \| DISEASES 285641 \| SLC36A3 \| DISEASES 7403 \| KDM6A \| DISEASES 4609 \| MYC \| DISEASES 54880 \| BCOR \| DISEASES 3400 \| ID4 \| DISEASES 3096 \| HIVEP1 \| DISEASES 3301 \| DNAJA1 \| DISEASES 54809 \| SAMD9 \| DISEASES 54790 \| TET2 \| DISEASES 10455 \| ECI2 \| DISEASES 25766 \| PRPF40B \| DISEASES 7280 \| TUBB2A \| DISEASES 6194 \| RPS6 \| DISEASES 284390 \| ZNF763 \| DISEASES 5277 \| PIGA \| DISEASES 8623 \| ASMTL \| DISEASES 7006 \| TEC \| DISEASES 10771 \| ZMYND11 \| DISEASES 3717 \| JAK2 \| DISEASES 3822 \| KLRC2 \| DISEASES 83650 \| SLC35G5 \| DISEASES 11200 \| CHEK2 \| DISEASES 5888 \| RAD51 \| DISEASES 2235 \| FECH \| DISEASES 2175 \| FANCA \| DISEASES 440193 \| CCDC88C \| DISEASES 11325 \| DDX42 \| DISEASES 3239 \| HOXD13 \| DISEASES 2113 \| ETS1 \| DISEASES 4291 \| MLF1 \| DISEASES 838 \| CASP5 \| DISEASES 3660 \| IRF2 \| DISEASES 3161 \| HMMR \| DISEASES 9349 \| RPL23 \| DISEASES 4145 \| MATK \| DISEASES 5814 \| PURB \| DISEASES 6387 \| CXCL12 \| DISEASES 115560 \| ZNF501 \| DISEASES 4629 \| MYH11 \| DISEASES 2120 \| ETV6 \| DISEASES 7913 \| DEK \| DISEASES 26292 \| MYCBP \| DISEASES 2950 \| GSTP1 \| DISEASES 23532 \| PRAME \| DISEASES 23243 \| ANKRD28 \| DISEASES 5927 \| KDM5A \| DISEASES 4626 \| MYH8 \| DISEASES 55120 \| FANCL \| DISEASES 7018 \| TF \| DISEASES 7852 \| CXCR4 \| DISEASES 1111 \| CHEK1 \| DISEASES 55252 \| ASXL2 \| DISEASES 2260 \| FGFR1 \| DISEASES 1438 \| CSF2RA \| DISEASES 1029 \| CDKN2A \| DISEASES 64324 \| NSD1 \| DISEASES 2935 \| GSPT1 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 862 \| RUNX1T1 \| DISEASES 2145 \| EZH1 \| DISEASES 6920 \| TCEA3 \| DISEASES 3115 \| HLA-DPB1 \| DISEASES 5985 \| RFC5 \| DISEASES 196527 \| ANO6 \| DISEASES 1028 \| CDKN1C \| DISEASES 80319 \| CXXC4 \| DISEASES 5682 \| PSMA1 \| DISEASES 8842 \| PROM1 \| DISEASES 4193 \| MDM2 \| DISEASES 3077 \| HFE \| DISEASES 23089 \| PEG10 \| DISEASES 85476 \| GFM1 \| DISEASES 10209 \| EIF1 \| DISEASES 1452 \| CSNK1A1 \| DISEASES 51428 \| DDX41 \| DISEASES 27071 \| DAPP1 \| DISEASES 1050 \| CEBPA \| DISEASES 2994 \| GYPB \| DISEASES 51312 \| SLC25A37 \| DISEASES 8111 \| GPR68 \| DISEASES 930 \| CD19 \| DISEASES 497189 \| TIFAB \| DISEASES 3684 \| ITGAM \| DISEASES 8284 \| KDM5D \| DISEASES 1649 \| DDIT3 \| DISEASES 567 \| B2M \| DISEASES 9212 \| AURKB \| DISEASES 115727 \| RASGRP4 \| DISEASES 6223 \| RPS19 \| DISEASES 100169750 \| PRINS \| DISEASES 7012 \| TERC \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) MECOM \| 3q26.2 GATA2 \| 3q21.3

Disease ID	54
Disease	myelodysplastic syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:81) HP:0001903 \| Anemia \| 36 HP:0001909 \| Leukemia \| 25 HP:0004808 \| Acute myelogenous leukemia \| 19 HP:0012324 \| Myeloid leukemia \| 17 HP:0005505 \| Refractory anemia \| 12 HP:0001873 \| Low platelet count \| 11 HP:0011974 \| Myelofibrosis \| 6 HP:0001875 \| Neutropenia \| 6 HP:0005528 \| Bone marrow hypoplasia \| 4 HP:0005506 \| Chronic myeloid leukemia \| 4 HP:0002664 \| Neoplasia \| 3 HP:0002633 \| Vasculitis \| 3 HP:0002960 \| Autoimmune condition \| 3 HP:0002665 \| Lymphoma \| 3 HP:0100242 \| Sarcoma \| 2 HP:0012132 \| Erythroid hyperplasia \| 2 HP:0012126 \| Gastric cancer \| 2 HP:0000999 \| Pyoderma \| 2 HP:0001894 \| Thrombocytosis \| 2 HP:0012410 \| Pure red cell aplasia \| 2 HP:0012133 \| Erythroid hypoplasia \| 2 HP:0002863 \| Myelodysplastic syndrome \| 2 HP:0001876 \| Low blood cell count \| 2 HP:0005310 \| Large vessel vasculitis \| 1 HP:0010783 \| Erythema \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0012325 \| Chronic myelomonocytic leukemia \| 1 HP:0001924 \| Hypersideremic anemia \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0003641 \| Hemoglobin in urine \| 1 HP:0004828 \| Myelodysplasia with sideroblastosis \| 1 HP:0001369 \| Arthritis \| 1 HP:0009592 \| Astrocytoma \| 1 HP:0012223 \| Ruptured spleen \| 1 HP:0001701 \| Pericarditis \| 1 HP:0002583 \| Colitis \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0012432 \| Chronic fatigue \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0002955 \| Granulomatosis \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0100653 \| Optic neuritis \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0001945 \| Fever \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0004950 \| Peripheral artery disease \| 1 HP:0002099 \| Asthma \| 1 HP:0012378 \| Fatigue \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0030731 \| Carcinoma \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0012531 \| Pain \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0008069 \| Neoplasm of the skin \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002835 \| Aspiration \| 1 HP:0005549 \| Low blood neutrophil level since birth \| 1 HP:0012490 \| Inflammation of fat tissue \| 1 HP:0012219 \| Erythema nodosum \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0006517 \| Alveolar proteinosis \| 1 HP:0012089 \| Arteritis \| 1 HP:0001935 \| Microcytic anemia \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0004444 \| Spherocytosis \| 1 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 1 HP:0100658 \| Bacterial infection of skin \| 1 HP:0012234 \| Agranulocytosis \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0001897 \| Normocytic anemia \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0002608 \| Celiac disease \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0001908 \| Hypoplastic anemia \| 1 HP:0000822 \| Hypertension \| 1 HP:0100279 \| Ulcerative colitis \| 1

Disease ID	54
Disease	myelodysplastic syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:127) C2707258 \| infections C2697391 \| rheumatoid arthritis C2613439 \| extramedullary hematopoiesis C2609129 \| autoimmune pancreatitis C2240374 \| eosinophilia C2108112 \| ventricular fibrillation C1963274 \| vasculitis C1963198 \| pancreatitis C1963148 \| iron overload C1963077 \| bone pain C1955861 \| t-cell large granular lymphocyte leukemia C1868810 \| neutrophilic panniculitis C1705714 \| warts C1516669 \| clonal evolution C1421374 \| porphyria cutanea tarda C1332607 \| sarcoma of the brain C1264613 \| gi infection C1264032 \| acquired thrombocytopathy C1142272 \| neutrophilic dermatosis C1136085 \| monoclonal gammopathy C1096441 \| trichosporon beigelii infection C1000483 \| anemia C0948976 \| leukemia cutis C0948976 \| leukaemia cutis C0877221 \| erythroblastopenia C0865240 \| red cell aplasia C0795851 \| trisomy 14 C0795800 \| trisomy 1q C0702100 \| pyoderma vegetans C0585216 \| acquired haemoglobin h disease C0581883 \| bilateral deafness C0575081 \| gait disturbance C0574960 \| sacroiliitis C0542035 \| erythroid hypoplasia C0524702 \| pulmonary thromboembolism C0497156 \| adenopathy C0432412 \| trisomy 8 C0427480 \| elliptocytosis C0424755 \| fever C0392439 \| acrodermatitis continua of hallopeau C0349532 \| gastric lymphoma C0343960 \| disseminated mucormycosis C0340708 \| deep vein thrombosis C0334660 \| angioendotheliomatosis C0333243 \| pitting oedema C0282207 \| cronkhite-canada syndrome C0272198 \| monocytic leukemoid reaction C0272137 \| tn syndrome C0264383 \| organizing pneumonia C0263664 \| generalized morphea C0263419 \| reactive perforating collagenosis C0263012 \| lobular panniculitis C0262988 \| cutaneous vasculitis C0238158 \| secondary hemochromatosis C0234906 \| annular erythema C0221023 \| cyclic hematopoiesis C0221013 \| systemic mastocytosis C0206061 \| interstitial pneumonitis C0206061 \| interstitial pneumonia C0162871 \| abdominal aortic aneurysm C0162839 \| porokeratosis C0152276 \| granulocytic sarcoma C0152276 \| extramedullary myeloid cell tumor C0151436 \| cutaneous leukocytoclastic vasculitis C0149678 \| epstein-barr virus infection C0149507 \| orbital cellulitis C0085669 \| acute leukemia C0085652 \| pyoderma gangrenosum C0085077 \| sweet's syndrome C0085077 \| sweet's disease C0085077 \| sweet syndrome C0043541 \| zygomycosis C0043541 \| mucormycosis C0040053 \| thrombosis C0040038 \| thromboembolism C0040034 \| thrombocytopenia C0038013 \| ankylosing spondylitis C0037285 \| skin manifestations C0037274 \| dermatosis C0037274 \| dermatoses C0036690 \| septicemia C0036421 \| systemic scleroderma C0034155 \| thrombotic thrombocytopenic purpura C0034150 \| purpura C0034150 \| peliosis C0034050 \| pulmonary alveolar proteinosis C0032453 \| relapsing polychondritis C0030328 \| weber-christian disease C0030312 \| pancytopenia C0030312 \| bone marrow failure C0029166 \| oral manifestations C0027947 \| neutropenia C0027019 \| myelomonocytic leukemia C0026987 \| myelofibrosis C0026986 \| myeloid dysplasia C0026946 \| fungal infection C0026916 \| mycobacterium avium-intracellulare infection C0025309 \| meningoencephalitis C0023479 \| acute myelomonocytic leukemia C0023467 \| acute myeloid leukemia C0023437 \| acute basophilic leukaemia C0023434 \| chronic lymphocytic leukemia C0023418 \| leukemia C0022660 \| acute renal failure C0021845 \| intestinal perforation C0019621 \| langerhans cell histiocytosis C0019114 \| hemosiderosis C0019080 \| hemorrhage C0019068 \| reactive hemophagocytic syndrome C0018133 \| graft-versus-host disease C0018133 \| graft vs. host disease C0017566 \| gingival hyperplasia C0015300 \| exophthalmos C0015230 \| skin rash C0014743 \| erythema nodosum C0014522 \| epidermodysplasia verruciformis C0008626 \| chromosomal abnormality C0007361 \| cat scratch disease C0006272 \| obliterative bronchiolitis C0005695 \| tumor of the urinary bladder C0004943 \| behcet's disease C0002893 \| refractory anemia (ra) C0002893 \| refractory anemia C0002880 \| autoimmune hemolytic anemia C0002878 \| hemolytic anemia C0002871 \| anaemia C0002312 \| alpha-thalassemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:47) C0002871 \| anemia \| 34 C0023418 \| leukemia \| 25 C0023467 \| acute myeloid leukemia \| 19 C0282193 \| iron overload \| 19 C0002893 \| refractory anemia \| 12 C0040034 \| thrombocytopenia \| 11 C0004943 \| behcet's disease \| 7 C0001815 \| myelofibrosis \| 6 C0027947 \| neutropenia \| 6 C0030312 \| bone marrow failure \| 4 C0432412 \| trisomy 8 \| 4 C0085077 \| sweet's syndrome \| 3 C0042384 \| vasculitis \| 3 C0018133 \| graft-versus-host disease \| 3 C0085077 \| sweet syndrome \| 3 C0085652 \| pyoderma gangrenosum \| 2 C0030312 \| pancytopenia \| 2 C0021311 \| infections \| 2 C0281963 \| red cell aplasia \| 2 C0542035 \| erythroid hypoplasia \| 2 C0002871 \| anaemia \| 2 C0030305 \| pancreatitis \| 1 C0149678 \| epstein-barr virus infection \| 1 C1868810 \| neutrophilic panniculitis \| 1 C0026718 \| mucormycosis \| 1 C0009450 \| infection \| 1 C0004364 \| autoimmune disorders \| 1 C0014457 \| eosinophilia \| 1 C1136085 \| monoclonal gammopathy \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C2609129 \| autoimmune pancreatitis \| 1 C0037285 \| skin manifestations \| 1 C0019080 \| hemorrhage \| 1 C0027019 \| myelomonocytic leukemia \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0034902 \| pure red cell aplasia \| 1 C0019621 \| langerhans cell histiocytosis \| 1 C1516669 \| clonal evolution \| 1 C0085669 \| acute leukemia \| 1 C0014743 \| erythema nodosum \| 1 C0040053 \| thrombosis \| 1 C0034050 \| pulmonary alveolar proteinosis \| 1 C0264383 \| organizing pneumonia \| 1 C0948976 \| leukemia cutis \| 1 C0015967 \| fever \| 1 C0008625 \| chromosomal abnormality \| 1 C0002878 \| hemolytic anemia \| 1

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	25768405	7157	TP53	umls:C3463824	BeFree	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes.	0.015687547	2015	TP53	17	7676154	G	T,C
rs1042522	22668018	7157	TP53	umls:C3463824	BeFree	Lack of association between MDM2 SNP309 and TP53 Arg72Pro polymorphisms with clinical outcomes in myelodysplastic syndrome.	0.015687547	2012	TP53	17	7676154	G	T,C
rs11540654	25768405	7157	TP53	umls:C3463824	BeFree	The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes.	0.015687547	2015	TP53	17	7676040	C	T,G,A
rs11540654	22668018	7157	TP53	umls:C3463824	BeFree	Lack of association between MDM2 SNP309 and TP53 Arg72Pro polymorphisms with clinical outcomes in myelodysplastic syndrome.	0.015687547	2012	TP53	17	7676040	C	T,G,A
rs121913615	18479730	4352	MPL	umls:C3463824	BeFree	We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation.	0.000542884	2008	MPL	1	43349338	G	T
rs386626619	20153505	3717	JAK2	umls:C3463824	BeFree	To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26).	0.020465218	2010	NA	NA	NA	NA	NA
rs386626619	18030353	3717	JAK2	umls:C3463824	BeFree	We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).	0.020465218	2007	NA	NA	NA	NA	NA
rs77375493	18030353	3717	JAK2	umls:C3463824	BeFree	We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML).	0.020465218	2007	JAK2;INSL6	9	5073770	G	A,T
rs77375493	20153505	3717	JAK2	umls:C3463824	BeFree	To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26).	0.020465218	2010	JAK2;INSL6	9	5073770	G	A,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:17)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C3463824	arsenic trioxide	C006632	1327-53-3	myelodysplastic syndromes	MESH:D009190	therapeutic	15203277
C3463824	azacitidine	D001374	320-67-2	myelodysplastic syndromes	MESH:D009190	therapeutic	17596541
C3463824	ciprofloxacin	D002939	85721-33-1	myelodysplastic syndromes	MESH:D009190	therapeutic	9809623
C3463824	clozapine	D003024	5786-21-0	myelodysplastic syndromes	MESH:D009190	marker/mechanism	16390912
C3463824	cyclophosphamide	D003520	50-18-0	myelodysplastic syndromes	MESH:D009190	marker/mechanism	7980211
C3463824	decitabine	C014347	2353-33-5	myelodysplastic syndromes	MESH:D009190	therapeutic	14604977
C3463824	everolimus	D000068338	-	myelodysplastic syndromes	MESH:D009190	therapeutic	16753882
C3463824	foscarnet	D017245	4428-95-9	myelodysplastic syndromes	MESH:D009190	therapeutic	18277595
C3463824	hydroxyurea	D006918	127-07-1	myelodysplastic syndromes	MESH:D009190	therapeutic	20231502
C3463824	ifosfamide	D007069	3778-73-2	myelodysplastic syndromes	MESH:D009190	marker/mechanism	16985182
C3463824	lenalidomide	C467567	-	myelodysplastic syndromes	MESH:D009190	therapeutic	17076650
C3463824	melphalan	D008558	148-82-3	myelodysplastic syndromes	MESH:D009190	marker/mechanism	17895401
C3463824	mitoxantrone	D008942	65271-80-9	myelodysplastic syndromes	MESH:D009190	therapeutic	9200991
C3463824	thalidomide	D013792	50-35-1	myelodysplastic syndromes	MESH:D009190	therapeutic	11840256
C3463824	tretinoin	D014212	302-79-4	myelodysplastic syndromes	MESH:D009190	therapeutic	10803936
C3463824	valproic acid	D014635	99-66-1	myelodysplastic syndromes	MESH:D009190	therapeutic	17596541
C3463824	zidovudine	D015215	30516-87-1	myelodysplastic syndromes	MESH:D009190	marker/mechanism	9209318

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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