PedAM

Pediatric Disease Annotations & Medicines


	aplastic anemia

Disease ID	144
Disease	aplastic anemia
Definition	A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.
Synonym	anaemia - aplastic anaemia aplastic anemia - aplastic anemia aplastic anemia, aplastic anemia, aplastic [disease/finding] anemias, aplastic aplastic anaemia aplastic anaemia (disorder) aplastic anaemia [ambiguous] aplastic anaemia nos aplastic anemia (disorder) aplastic anemia (disorder) [ambiguous] aplastic anemia [dup] (disorder) aplastic anemia nos aplastic anemia nos (disorder) aplastic anemia, nos aplastic anemia, unspecified aplastic anemias bone marrow aplasia erythroid aplasia haematopoietic aplasia hematopoietic aplasia hematopoietic aplasia (disorder)
OMIM	OMIM:609135
DOID	DOID:12449
ICD10	ICD10CM:D61.9
UMLS	C0002874
MeSH	D000741
SNOMED-CT	SNOMEDCT_US_2016_09_01:306058006;SNOMEDCT_US_2016_09_01:304132006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:68) C0409974 \| lupus erythematosus \| 5 C0024141 \| systemic lupus erythematosus \| 5 C0030312 \| pancytopenia \| 5 C0019158 \| hepatitis \| 4 C0019048 \| hemoglobinuria \| 3 C0026718 \| mucormycosis \| 3 C0040034 \| thrombocytopenia \| 3 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 3 C0042721 \| viral hepatitis \| 2 C0041296 \| tuberculosis \| 2 C0002871 \| anemia \| 2 C0024291 \| hemophagocytic lymphohistiocytosis \| 2 C0085273 \| parvovirus b19 infection \| 2 C0015645 \| fasciitis \| 2 C0041327 \| pulmonary tuberculosis \| 2 C0009324 \| ulcerative colitis \| 2 C0024141 \| systemic lupus erythematosis \| 2 C0035078 \| renal failure \| 2 C0007570 \| celiac disease \| 2 C0030312 \| bone marrow failure \| 2 C0011570 \| depression \| 2 C0282193 \| iron overload \| 2 C0019196 \| hepatitis c \| 2 C0281963 \| red cell aplasia \| 1 C0265965 \| dyskeratosis congenita \| 1 C0004030 \| aspergillosis \| 1 C0085110 \| severe combined immunodeficiency \| 1 C0019045 \| hemoglobinopathies \| 1 C0085110 \| severe combined immunodefic \| 1 C0015625 \| fanconi anemia \| 1 C0023467 \| acute myelocytic leukemia \| 1 C0014038 \| encephalitis \| 1 C0009319 \| colitis \| 1 C0007113 \| rectal cancer \| 1 C0016470 \| food allergies \| 1 C0007102 \| colon cancer \| 1 C1368107 \| bone marrow aplasia \| 1 C0008049 \| varicella \| 1 C0040100 \| thymoma \| 1 C0019655 \| histoplasmosis \| 1 C0022735 \| klinefelter syndrome \| 1 C0948201 \| alloimmunization \| 1 C0155765 \| microangiopathy \| 1 C0026769 \| multiple sclerosis \| 1 C0023470 \| myelocytic leukemia \| 1 C0023467 \| acute myelogenous leukemia (aml) \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria (pnh) \| 1 C0021053 \| immune disorder \| 1 C0023465 \| acute monocytic leukemia \| 1 C0024299 \| lymphoma \| 1 C0027947 \| neutropenia \| 1 C0238124 \| necrotizing fasciitis \| 1 C0021053 \| immune disease \| 1 C0019196 \| viral hepatitis c \| 1 C0042769 \| virus infection \| 1 C0040558 \| toxoplasmosis \| 1 C0027051 \| myocardial infarction \| 1 C0040053 \| thrombosis \| 1 C0009402 \| colorectal cancer \| 1 C0002886 \| macrocytic anemia \| 1 C0085278 \| antiphospholipid syndrome \| 1 C0023470 \| myeloid leukemia \| 1 C0027051 \| myocardial infarct \| 1 C0018784 \| sensorineural hearing loss \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0039730 \| thalassemia \| 1 C0023418 \| leukemia \| 1 C0024623 \| gastric cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:47) ABCB7 \| 22 \| GHR BRCA2 \| 675 \| UniProtKB-KW;GHR IFNG \| 3458 \| CTD_human HFE \| 3077 \| GHR BRIP1 \| 83990 \| UniProtKB-KW;GHR TINF2 \| 26277 \| CLINVAR CSF2 \| 1437 \| CTD_human TSR2 \| 90121 \| UniProtKB-KW RPS7 \| 6201 \| UniProtKB-KW;GHR FANCE \| 2178 \| UniProtKB-KW;GHR FANCC \| 2176 \| UniProtKB-KW;GHR RPL35A \| 6165 \| UniProtKB-KW;GHR TERT \| 7015 \| CLINVAR;CTD_human NBN \| 4683 \| CLINVAR CSF3 \| 1440 \| CTD_human MAD2L2 \| 10459 \| UniProtKB-KW ALAS2 \| 212 \| GHR FANCG \| 2189 \| UniProtKB-KW;GHR FANCD2 \| 2177 \| UniProtKB-KW;GHR UBE2T \| 29089 \| UniProtKB-KW RAD51C \| 5889 \| UniProtKB-KW;GHR RPL27 \| 6155 \| UniProtKB-KW RPS24 \| 6229 \| UniProtKB-KW;GHR RPS27 \| 6232 \| UniProtKB-KW PALB2 \| 79728 \| UniProtKB-KW;GHR FANCI \| 55215 \| UniProtKB-KW;GHR RPS19 \| 6223 \| UniProtKB-KW;GHR ERCC4 \| 2072 \| UniProtKB-KW RPS10 \| 6204 \| UniProtKB-KW;GHR SLX4 \| 84464 \| UniProtKB-KW;GHR RAD51 \| 5888 \| UniProtKB-KW PRF1 \| 5551 \| CLINVAR RPS26 \| 6231 \| UniProtKB-KW;GHR RPS29 \| 6235 \| UniProtKB-KW RPS28 \| 6234 \| UniProtKB-KW RPL5 \| 6125 \| UniProtKB-KW;GHR XRCC2 \| 7516 \| UniProtKB-KW RPL15 \| 6138 \| UniProtKB-KW RPL11 \| 6135 \| UniProtKB-KW;GHR TERC \| 7012 \| CLINVAR;CTD_human RPS17 \| 6218 \| UniProtKB-KW;GHR FANCL \| 55120 \| UniProtKB-KW;GHR FANCM \| 57697 \| GHR FANCB \| 2187 \| UniProtKB-KW;GHR FANCA \| 2175 \| UniProtKB-KW;GHR FANCF \| 2188 \| UniProtKB-KW;GHR RPL26 \| 6154 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 3105 \| HLA-A \| infer 3106 \| HLA-B \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 7012 \| TERC \| infer 7013 \| TERF1 \| infer 7014 \| TERF2 \| infer 7015 \| TERT \| infer 3077 \| HFE \| infer 3458 \| IFNG \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:448) 100506492 \| DSCAM-AS1 \| DISEASES 920 \| CD4 \| DISEASES 2067 \| ERCC1 \| DISEASES 259282 \| BOD1L1 \| DISEASES 30009 \| TBX21 \| DISEASES 4680 \| CEACAM6 \| DISEASES 6128 \| RPL6 \| DISEASES 7066 \| THPO \| DISEASES 2802 \| GOLGA3 \| DISEASES 150274 \| HSCB \| DISEASES 25807 \| RHBDD3 \| DISEASES 3002 \| GZMB \| DISEASES 5427 \| POLE2 \| DISEASES 10735 \| STAG2 \| DISEASES 63035 \| BCORL1 \| DISEASES 8237 \| USP11 \| DISEASES 10916 \| MAGED2 \| DISEASES 1666 \| DECR1 \| DISEASES 268 \| AMH \| DISEASES 973 \| CD79A \| DISEASES 2057 \| EPOR \| DISEASES 57817 \| HAMP \| DISEASES 7036 \| TFR2 \| DISEASES 6348 \| CCL3 \| DISEASES 5691 \| PSMB3 \| DISEASES 6143 \| RPL19 \| DISEASES 1440 \| CSF3 \| DISEASES 218 \| ALDH3A1 \| DISEASES 29098 \| RANGRF \| DISEASES 952 \| CD38 \| DISEASES 3558 \| IL2 \| DISEASES 54433 \| GAR1 \| DISEASES 6688 \| SPI1 \| DISEASES 4254 \| KITLG \| DISEASES 10635 \| RAD51AP1 \| DISEASES 3458 \| IFNG \| DISEASES 2178 \| FANCE \| DISEASES 7265 \| TTC1 \| DISEASES 3565 \| IL4 \| DISEASES 5917 \| RARS \| DISEASES 4292 \| MLH1 \| DISEASES 4436 \| MSH2 \| DISEASES 2956 \| MSH6 \| DISEASES 10459 \| MAD2L2 \| DISEASES 11126 \| CD160 \| DISEASES 10965 \| ACOT2 \| DISEASES 84272 \| YIPF4 \| DISEASES 92 \| ACVR2A \| DISEASES 2322 \| FLT3 \| DISEASES 9111 \| NMI \| DISEASES 206358 \| SLC36A1 \| DISEASES 1088 \| CEACAM8 \| DISEASES 3659 \| IRF1 \| DISEASES 718 \| C3 \| DISEASES 51119 \| SBDS \| DISEASES 2952 \| GSTT1 \| DISEASES 3976 \| LIF \| DISEASES 8554 \| PIAS1 \| DISEASES 43849 \| KLK12 \| DISEASES 6192 \| RPS4Y1 \| DISEASES 548593 \| SLX1A \| DISEASES 6217 \| RPS16 \| DISEASES 51095 \| TRNT1 \| DISEASES 4695 \| NDUFA2 \| DISEASES 25873 \| RPL36 \| DISEASES 2056 \| EPO \| DISEASES 1571 \| CYP2E1 \| DISEASES 22 \| ABCB7 \| DISEASES 6155 \| RPL27 \| DISEASES 56154 \| TEX15 \| DISEASES 51455 \| REV1 \| DISEASES 3569 \| IL6 \| DISEASES 83990 \| BRIP1 \| DISEASES 11224 \| RPL35 \| DISEASES 255488 \| RNF144B \| DISEASES 51187 \| RSL24D1 \| DISEASES 11073 \| TOPBP1 \| DISEASES 30061 \| SLC40A1 \| DISEASES 5700 \| PSMC1 \| DISEASES 79728 \| PALB2 \| DISEASES 217 \| ALDH2 \| DISEASES 9172 \| MYOM2 \| DISEASES 945 \| CD33 \| DISEASES 9894 \| TELO2 \| DISEASES 3674 \| ITGA2B \| DISEASES 27033 \| ZBTB32 \| DISEASES 5050 \| PAFAH1B3 \| DISEASES 23523 \| CABIN1 \| DISEASES 4924 \| NUCB1 \| DISEASES 3552 \| IL1A \| DISEASES 3553 \| IL1B \| DISEASES 941 \| CD80 \| DISEASES 3589 \| IL11 \| DISEASES 6774 \| STAT3 \| DISEASES 1788 \| DNMT3A \| DISEASES 56852 \| RAD18 \| DISEASES 1161 \| ERCC8 \| DISEASES 4437 \| MSH3 \| DISEASES 5395 \| PMS2 \| DISEASES 55647 \| RAB20 \| DISEASES 26277 \| TINF2 \| DISEASES 57697 \| FANCM \| DISEASES 80119 \| PIF1 \| DISEASES 7157 \| TP53 \| DISEASES 127829 \| ARL8A \| DISEASES 6233 \| RPS27A \| DISEASES 54977 \| SLC25A38 \| DISEASES 6167 \| RPL37 \| DISEASES 55651 \| NHP2 \| DISEASES 64434 \| NOM1 \| DISEASES 7013 \| TERF1 \| DISEASES 472 \| ATM \| DISEASES 80224 \| NUBPL \| DISEASES 83734 \| ATG10 \| DISEASES 219333 \| USP12 \| DISEASES 678 \| ZFP36L2 \| DISEASES 55781 \| RIOK2 \| DISEASES 64422 \| ATG3 \| DISEASES 5205 \| ATP8B1 \| DISEASES 2071 \| ERCC3 \| DISEASES 27163 \| NAAA \| DISEASES 6156 \| RPL30 \| DISEASES 2177 \| FANCD2 \| DISEASES 3815 \| KIT \| DISEASES 375748 \| ERCC6L2 \| DISEASES 2176 \| FANCC \| DISEASES 9437 \| NCR1 \| DISEASES 114757 \| CYGB \| DISEASES 6777 \| STAT5B \| DISEASES 3889 \| KRT83 \| DISEASES 6154 \| RPL26 \| DISEASES 84464 \| SLX4 \| DISEASES 6886 \| TAL1 \| DISEASES 2672 \| GFI1 \| DISEASES 2215 \| FCGR3B \| DISEASES 27306 \| HPGDS \| DISEASES 113510 \| HELQ \| DISEASES 213 \| ALB \| DISEASES 327 \| APEH \| DISEASES 308 \| ANXA5 \| DISEASES 56979 \| PRDM9 \| DISEASES 3562 \| IL3 \| DISEASES 1437 \| CSF2 \| DISEASES 4869 \| NPM1 \| DISEASES 7486 \| WRN \| DISEASES 3251 \| HPRT1 \| DISEASES 290 \| ANPEP \| DISEASES 5347 \| PLK1 \| DISEASES 861 \| RUNX1 \| DISEASES 10036 \| CHAF1A \| DISEASES 55720 \| TSR1 \| DISEASES 332 \| BIRC5 \| DISEASES 133418 \| EMB \| DISEASES 699 \| BUB1 \| DISEASES 23440 \| OTP \| DISEASES 23244 \| PDS5A \| DISEASES 53343 \| NUDT9 \| DISEASES 7314 \| UBB \| DISEASES 2237 \| FEN1 \| DISEASES 3575 \| IL7R \| DISEASES 6504 \| SLAMF1 \| DISEASES 57599 \| WDR48 \| DISEASES 80198 \| MUS81 \| DISEASES 27087 \| B3GAT1 \| DISEASES 10238 \| DCAF7 \| DISEASES 211 \| ALAS1 \| DISEASES 6138 \| RPL15 \| DISEASES 48 \| ACO1 \| DISEASES 7015 \| TERT \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 116028 \| RMI2 \| DISEASES 2072 \| ERCC4 \| DISEASES 23479 \| ISCU \| DISEASES 55215 \| FANCI \| DISEASES 6208 \| RPS14 \| DISEASES 836 \| CASP3 \| DISEASES 29990 \| PILRB \| DISEASES 64393 \| ZMAT3 \| DISEASES 5883 \| RAD9A \| DISEASES 6124 \| RPL4 \| DISEASES 2944 \| GSTM1 \| DISEASES 9156 \| EXO1 \| DISEASES 924 \| CD7 \| DISEASES 91607 \| SLFN11 \| DISEASES 55218 \| EXD2 \| DISEASES 79915 \| ATAD5 \| DISEASES 5591 \| PRKDC \| DISEASES 80169 \| CTC1 \| DISEASES 254394 \| MCM9 \| DISEASES 6047 \| RNF4 \| DISEASES 8208 \| CHAF1B \| DISEASES 7334 \| UBE2N \| DISEASES 1604 \| CD55 \| DISEASES 8239 \| USP9X \| DISEASES 94081 \| SFXN1 \| DISEASES 80010 \| RMI1 \| DISEASES 9400 \| RECQL5 \| DISEASES 4684 \| NCAM1 \| DISEASES 65123 \| INTS3 \| DISEASES 6210 \| RPS15A \| DISEASES 818 \| CAMK2G \| DISEASES 10938 \| EHD1 \| DISEASES 51067 \| YARS2 \| DISEASES 165918 \| RNF168 \| DISEASES 7156 \| TOP3A \| DISEASES 6181 \| RPLP2 \| DISEASES 5932 \| RBBP8 \| DISEASES 84126 \| ATRIP \| DISEASES 165829 \| GPR156 \| DISEASES 2187 \| FANCB \| DISEASES 49855 \| SCAPER \| DISEASES 4094 \| MAF \| DISEASES 4191 \| MDH2 \| DISEASES 1435 \| CSF1 \| DISEASES 51218 \| GLRX5 \| DISEASES 29933 \| GPR132 \| DISEASES 3214 \| HOXB4 \| DISEASES 79008 \| SLX1B \| DISEASES 2188 \| FANCF \| DISEASES 6938 \| TCF12 \| DISEASES 10933 \| MORF4L1 \| DISEASES 7490 \| WT1 \| DISEASES 10196 \| PRMT3 \| DISEASES 55505 \| NOP10 \| DISEASES 23545 \| ATP6V0A2 \| DISEASES 212 \| ALAS2 \| DISEASES 9939 \| RBM8A \| DISEASES 91582 \| RPS19BP1 \| DISEASES 3043 \| HBB \| DISEASES 199720 \| GGN \| DISEASES 5889 \| RAD51C \| DISEASES 148738 \| HFE2 \| DISEASES 140823 \| ROMO1 \| DISEASES 51337 \| THEM6 \| DISEASES 6201 \| RPS7 \| DISEASES 56978 \| PRDM8 \| DISEASES 6129 \| RPL7 \| DISEASES 966 \| CD59 \| DISEASES 10524 \| KAT5 \| DISEASES 5781 \| PTPN11 \| DISEASES 6776 \| STAT5A \| DISEASES 51513 \| ETV7 \| DISEASES 6187 \| RPS2 \| DISEASES 7518 \| XRCC4 \| DISEASES 6731 \| SRP72 \| DISEASES 921 \| CD5 \| DISEASES 2770 \| GNAI1 \| DISEASES 7517 \| XRCC3 \| DISEASES 7398 \| USP1 \| DISEASES 3605 \| IL17A \| DISEASES 53827 \| FXYD5 \| DISEASES 55972 \| SLC25A40 \| DISEASES 9045 \| RPL14 \| DISEASES 2624 \| GATA2 \| DISEASES 3767 \| KCNJ11 \| DISEASES 6166 \| RPL36AL \| DISEASES 6157 \| RPL27A \| DISEASES 6133 \| RPL9 \| DISEASES 6144 \| RPL21 \| DISEASES 6176 \| RPLP1 \| DISEASES 6218 \| RPS17 \| DISEASES 6189 \| RPS3A \| DISEASES 79711 \| IPO4 \| DISEASES 79661 \| NEIL1 \| DISEASES 641 \| BLM \| DISEASES 6204 \| RPS10 \| DISEASES 55107 \| ANO1 \| DISEASES 5143 \| PDE4C \| DISEASES 355 \| FAS \| DISEASES 3240 \| HP \| DISEASES 6231 \| RPS26 \| DISEASES 6288 \| SAA1 \| DISEASES 6711 \| SPTBN1 \| DISEASES 3981 \| LIG4 \| DISEASES 5169 \| ENPP3 \| DISEASES 6597 \| SMARCA4 \| DISEASES 6775 \| STAT4 \| DISEASES 5893 \| RAD52 \| DISEASES 2526 \| FUT4 \| DISEASES 5980 \| REV3L \| DISEASES 57162 \| PELI1 \| DISEASES 1995 \| ELAVL3 \| DISEASES 2547 \| XRCC6 \| DISEASES 7516 \| XRCC2 \| DISEASES 29086 \| BABAM1 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 7037 \| TFRC \| DISEASES 4478 \| MSN \| DISEASES 2993 \| GYPA \| DISEASES 55159 \| RFWD3 \| DISEASES 6772 \| STAT1 \| DISEASES 22909 \| FAN1 \| DISEASES 4519 \| MT-CYB \| DISEASES 6136 \| RPL12 \| DISEASES 9867 \| PJA2 \| DISEASES 64219 \| PJA1 \| DISEASES 9937 \| DCLRE1A \| DISEASES 6170 \| RPL39 \| DISEASES 10638 \| SPHAR \| DISEASES 142 \| PARP1 \| DISEASES 28982 \| FLVCR1 \| DISEASES 25896 \| INTS7 \| DISEASES 1378 \| CR1 \| DISEASES 9261 \| MAPKAPK2 \| DISEASES 29089 \| UBE2T \| DISEASES 5788 \| PTPRC \| DISEASES 356 \| FASLG \| DISEASES 2214 \| FCGR3A \| DISEASES 962 \| CD48 \| DISEASES 93183 \| PIGM \| DISEASES 6708 \| SPTA1 \| DISEASES 6232 \| RPS27 \| DISEASES 84504 \| NKX6-2 \| DISEASES 7062 \| TCHH \| DISEASES 79184 \| BRCC3 \| DISEASES 914 \| CD2 \| DISEASES 4893 \| NRAS \| DISEASES 1736 \| DKC1 \| DISEASES 64858 \| DCLRE1B \| DISEASES 7272 \| TTK \| DISEASES 118980 \| SFXN2 \| DISEASES 51750 \| RTEL1 \| DISEASES 6125 \| RPL5 \| DISEASES 959 \| CD40LG \| DISEASES 5688 \| PSMA7 \| DISEASES 4068 \| SH2D1A \| DISEASES 6130 \| RPL7A \| DISEASES 5429 \| POLH \| DISEASES 25 \| ABL1 \| DISEASES 4352 \| MPL \| DISEASES 6709 \| SPTAN1 \| DISEASES 100 \| ADA \| DISEASES 1441 \| CSF3R \| DISEASES 5230 \| PGK1 \| DISEASES 546 \| ATRX \| DISEASES 9025 \| RNF8 \| DISEASES 6191 \| RPS4X \| DISEASES 4736 \| RPL10A \| DISEASES 6118 \| RPA2 \| DISEASES 1043 \| CD52 \| DISEASES 449520 \| GGNBP1 \| DISEASES 6135 \| RPL11 \| DISEASES 7507 \| XPA \| DISEASES 90121 \| TSR2 \| DISEASES 3014 \| H2AFX \| DISEASES 171023 \| ASXL1 \| DISEASES 58530 \| LY6G6D \| DISEASES 22852 \| ANKRD26 \| DISEASES 50943 \| FOXP3 \| DISEASES 9656 \| MDC1 \| DISEASES 414328 \| IDNK \| DISEASES 80324 \| PUS1 \| DISEASES 2623 \| GATA1 \| DISEASES 3105 \| HLA-A \| DISEASES 22803 \| XRN2 \| DISEASES 51720 \| UIMC1 \| DISEASES 2395 \| FXN \| DISEASES 27131 \| SNX5 \| DISEASES 64421 \| DCLRE1C \| DISEASES 54880 \| BCOR \| DISEASES 2189 \| FANCG \| DISEASES 8803 \| SUCLA2 \| DISEASES 3400 \| ID4 \| DISEASES 84515 \| MCM8 \| DISEASES 2625 \| GATA3 \| DISEASES 84893 \| FBXO18 \| DISEASES 54790 \| TET2 \| DISEASES 10455 \| ECI2 \| DISEASES 675 \| BRCA2 \| DISEASES 6194 \| RPS6 \| DISEASES 5277 \| PIGA \| DISEASES 84142 \| FAM175A \| DISEASES 5884 \| RAD17 \| DISEASES 105 \| ADARB2 \| DISEASES 3717 \| JAK2 \| DISEASES 7158 \| TP53BP1 \| DISEASES 83650 \| SLC35G5 \| DISEASES 11200 \| CHEK2 \| DISEASES 5888 \| RAD51 \| DISEASES 353497 \| POLN \| DISEASES 2235 \| FECH \| DISEASES 7862 \| BRPF1 \| DISEASES 2175 \| FANCA \| DISEASES 146956 \| EME1 \| DISEASES 4145 \| MATK \| DISEASES 4773 \| NFATC2 \| DISEASES 6235 \| RPS29 \| DISEASES 3676 \| ITGA4 \| DISEASES 5119 \| CHMP1A \| DISEASES 1763 \| DNA2 \| DISEASES 1663 \| DDX11 \| DISEASES 55120 \| FANCL \| DISEASES 7018 \| TF \| DISEASES 10213 \| PSMD14 \| DISEASES 6160 \| RPL31 \| DISEASES 7311 \| UBA52 \| DISEASES 1111 \| CHEK1 \| DISEASES 6147 \| RPL23A \| DISEASES 3800 \| KIF5C \| DISEASES 6165 \| RPL35A \| DISEASES 5965 \| RECQL \| DISEASES 3430 \| IFI35 \| DISEASES 1719 \| DHFR \| DISEASES 55284 \| UBE2W \| DISEASES 86 \| ACTL6A \| DISEASES 64864 \| RFX7 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 4049 \| LTA \| DISEASES 8315 \| BRAP \| DISEASES 6173 \| RPL36A \| DISEASES 55898 \| UNC45A \| DISEASES 7812 \| CSDE1 \| DISEASES 64854 \| USP46 \| DISEASES 5985 \| RFC5 \| DISEASES 54993 \| ZSCAN2 \| DISEASES 7153 \| TOP2A \| DISEASES 6229 \| RPS24 \| DISEASES 92822 \| ZNF276 \| DISEASES 51686 \| OAZ3 \| DISEASES 3077 \| HFE \| DISEASES 4700 \| NDUFA6 \| DISEASES 672 \| BRCA1 \| DISEASES 26137 \| ZBTB20 \| DISEASES 51428 \| DDX41 \| DISEASES 2994 \| GYPB \| DISEASES 51312 \| SLC25A37 \| DISEASES 6224 \| RPS20 \| DISEASES 56943 \| ENY2 \| DISEASES 55656 \| INTS8 \| DISEASES 6188 \| RPS3 \| DISEASES 6230 \| RPS25 \| DISEASES 930 \| CD19 \| DISEASES 23601 \| CLEC5A \| DISEASES 567 \| B2M \| DISEASES 11245 \| GPR176 \| DISEASES 5892 \| RAD51D \| DISEASES 7138 \| TNNT1 \| DISEASES 6209 \| RPS15 \| DISEASES 2323 \| FLT3LG \| DISEASES 6223 \| RPS19 \| DISEASES 6234 \| RPS28 \| DISEASES 4556 \| MT-TE \| DISEASES 4563 \| MT-TG \| DISEASES 677825 \| SNORA44 \| DISEASES 732253 \| TDRG1 \| DISEASES 7012 \| TERC \| DISEASES
Locus	(Waiting for update.)

Disease ID	144
Disease	aplastic anemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:48) HP:0002725 \| Systemic lupus erythematosus \| 5 HP:0001876 \| Low blood cell count \| 5 HP:0012115 \| Liver inflammation \| 4 HP:0003641 \| Hemoglobin in urine \| 3 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 3 HP:0001873 \| Low platelet count \| 3 HP:0006562 \| Viral hepatitis \| 2 HP:0000716 \| Depression \| 2 HP:0100537 \| Inflammation of the fascia \| 2 HP:0002608 \| Celiac disease \| 2 HP:0001903 \| Anemia \| 2 HP:0005528 \| Bone marrow hypoplasia \| 2 HP:0100279 \| Ulcerative colitis \| 2 HP:0006554 \| Acute hepatic failure \| 1 HP:0005506 \| Chronic myeloid leukemia \| 1 HP:0003003 \| Colon cancer \| 1 HP:0005305 \| Cerebral vein thrombosis \| 1 HP:0006349 \| Agenesis of permanent dentition \| 1 HP:0001250 \| Seizures \| 1 HP:0004845 \| Acute monoblastic leukemia \| 1 HP:0012378 \| Fatigue \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0001909 \| Leukemia \| 1 HP:0001972 \| Macrocytic anemia \| 1 HP:0100522 \| Thymoma \| 1 HP:0001875 \| Neutropenia \| 1 HP:0002665 \| Lymphoma \| 1 HP:0004430 \| Severe combined immunodeficiency \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0002583 \| Colitis \| 1 HP:0002835 \| Aspiration \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0012410 \| Pure red cell aplasia \| 1 HP:0002745 \| Oral idiopathic leukoplakia \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0045029 \| Eosinophilic fasciitis \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0030150 \| Plasmacytosis \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0000132 \| Hypermenorrhea \| 1 HP:0002383 \| Encephalitis \| 1 HP:0001399 \| Liver failure \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0005387 \| Combined immunodeficiency \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0012190 \| T cell lymphoma \| 1

Disease ID	144
Disease	aplastic anemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:74) C2707258 \| infections C2609073 \| splenic peliosis C2364133 \| infection C2030274 \| metrorrhagia C2004480 \| macrocytosis C1963229 \| retinal detachment C1963198 \| pancreatitis C1963123 \| valvular heart disease C1959635 \| parvovirus b19 C1521999 \| acute myocardial infarction C1516669 \| clonal evolution C1420725 \| thymoma C1418558 \| paroxysmal nocturnal hemoglobinuria C1384665 \| hemochromatosis C1373218 \| immunosuppression C1274377 \| vibrio vulnificus infection C1090821 \| sepsis C0948691 \| cerebral aspergillosis C0867389 \| chronic graft-versus-host disease C0701818 \| choledocholithiasis C0677598 \| stomatocytosis C0600336 \| subcorneal pustular dermatosis C0585216 \| acquired hemoglobin h disease C0409979 \| neonatal lupus erythematosus C0409979 \| neonatal lupus C0400823 \| neutropenic colitis C0343884 \| acute disseminated candidiasis C0341335 \| cytomegalovirus colitis C0338575 \| superior sagittal sinus thrombosis C0302809 \| fulminant hepatitis C0276085 \| ecthyma gangrenosum C0220847 \| hepatitis c C0162557 \| acute hepatic failure C0155842 \| parapharyngeal abscess C0155288 \| papilledema C0152439 \| retinoschisis C0151942 \| arterial thrombosis C0151773 \| hypocellular bone marrow C0151773 \| bone marrow depression C0085669 \| acute leukemia C0085655 \| polymyositis C0043541 \| zygomycosis C0042769 \| viral infections C0040053 \| thrombosis C0040034 \| thrombocytopenia C0038525 \| subarachnoid hemorrhage C0037199 \| sinusitis C0033845 \| pseudotumor cerebri C0031090 \| periodontal disease C0030312 \| pancytopenias C0030312 \| pancytopenia C0030312 \| bone marrow failure C0030167 \| pachymeningitis C0029463 \| osteogenic sarcoma C0029410 \| osteoarthritis of the hip C0029166 \| oral manifestations C0027013 \| myeloid metaplasia C0026986 \| myelodysplastic syndrome C0026764 \| multiple myeloma C0024790 \| paroxysmal nocturnal hemoglobinuria (pnh) C0024141 \| systemic lupus erythematosus C0022667 \| renal papillary necrosis C0022660 \| acute renal failure C0019158 \| hepatitis C0019156 \| veno-occlusive disease of the liver C0019080 \| hemorrhage C0017668 \| focal segmental glomerulosclerosis C0012739 \| disseminated intravascular coagulation C0012715 \| iron metabolism disorder C0009324 \| ulcerative colitis C0008626 \| chromosomal abnormality C0004623 \| bacterial infections C0004610 \| bacteremia C0004030 \| aspergillosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:18) C0009450 \| infection \| 6 C0024141 \| systemic lupus erythematosus \| 5 C0030312 \| pancytopenia \| 5 C0019158 \| hepatitis \| 4 C0040034 \| thrombocytopenia \| 3 C1516669 \| clonal evolution \| 3 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 3 C0021311 \| infections \| 3 C0085274 \| parvovirus b19 \| 3 C0019080 \| hemorrhage \| 3 C0021079 \| immunosuppression \| 2 C0019196 \| hepatitis c \| 2 C0030312 \| bone marrow failure \| 2 C0009324 \| ulcerative colitis \| 2 C0004030 \| aspergillosis \| 1 C0040053 \| thrombosis \| 1 C0040100 \| thymoma \| 1 C0151773 \| bone marrow depression \| 1

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

All Snps(Total Genotypes:32)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10818488	25500258	7185	TRAF1	umls:C0002874	BeFree	Our results indicated that TRAF1/C5 rs10818488 polymorphism might not contribute to susceptibility to AA in a Chinese population.	0.000271442	2014	NA	9	120942809	A	G
rs113487931	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169765003	C	T
rs121918661	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1294282	C	T
rs121918662	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1279341	C	T
rs121918663	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1272252	T	C
rs121918664	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT;LOC105374613	5	1254395	C	T
rs1800470	20953611	7040	TGFB1	umls:C0002874	BeFree	Concerning TGFB1, although its polymorphisms are not related to AA susceptibility, P10L T allele (recessive model, OR = 0.18, p = .038) and CT haplotype (dominant model, OR = 5.68, p = .038) were associated with response to IST.	0.000542884	2011	TGFB1	19	41353016	G	C,A
rs193302875	NA	5551	PRF1	umls:C0002874	CLINVAR	NA	0.12	NA	PRF1	10	70598558	C	A
rs199422259	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169765027	CCACCAC	-
rs199422265	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764989	G	C,A
rs199422270	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764948	AGTC	-
rs199422273	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764944	T	G
rs199422275	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764883	C	T
rs199422276	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764881	G	A
rs199422279	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764756	C	T
rs199422280	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764739	C	T
rs199422281	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764738	G	A
rs199422283	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764669	GG	-
rs199422287	NA	7012	TERC	umls:C0002874	CLINVAR	NA	0.256988674	NA	TERC	3	169764611	C	T
rs199422298	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1278780	G	A
rs199422302	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1268565	T	C
rs199422303	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1266490	G	C
rs199422305	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1260509	G	A
rs199422307	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT;LOC105374613	5	1255401	A	G
rs199422317	NA	26277	TINF2	umls:C0002874	CLINVAR	NA	0.120271442	NA	TINF2	14	24240618	A	G
rs34094720	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1293652	G	A
rs35418374	NA	5551	PRF1	umls:C0002874	CLINVAR	NA	0.12	NA	PRF1	10	70600892	C	T
rs35719940	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT;LOC105374613	5	1254479	C	T
rs61748181	NA	7015	TERT	umls:C0002874	CLINVAR	NA	0.247534359	NA	TERT	5	1294051	C	T
rs61754966	24830725	4683	NBN	umls:C0002874	BeFree	In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability.	0.120542884	2014	NBN	8	89978293	T	C
rs61754966	NA	4683	NBN	umls:C0002874	CLINVAR	NA	0.120542884	NA	NBN	8	89978293	T	C
rs61754966	15338273	4683	NBN	umls:C0002874	BeFree	First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.	0.120542884	2004	NBN	8	89978293	T	C

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:43)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0002874	albendazole	D015766	54965-21-8	anemia, aplastic	MESH:D000741	marker/mechanism	8813106
C0002874	aminosalicylic acid	D010131	65-49-6	anemia, aplastic	MESH:D000741	marker/mechanism	6184934
C0002874	busulfan	D002066	55-98-1	anemia, aplastic	MESH:D000741	marker/mechanism	11877074
C0002874	carbamazepine	D002220	298-46-4	anemia, aplastic	MESH:D000741	marker/mechanism	12389151
C0002874	carbimazole	D002231	22232-54-8	anemia, aplastic	MESH:D000741	marker/mechanism	18816182
C0002874	chloramphenicol	D002701	56-75-7	anemia, aplastic	MESH:D000741	marker/mechanism	1166296
C0002874	cladribine	D017338	4291-63-8	anemia, aplastic	MESH:D000741	marker/mechanism	9684936
C0002874	chloroquine	D002738	1954/5/7	anemia, aplastic	MESH:D000741	marker/mechanism	273209
C0002874	cimetidine	D002927	51481-61-9	anemia, aplastic	MESH:D000741	marker/mechanism	3055188
C0002874	clofazimine	D002991	2030-63-9	anemia, aplastic	MESH:D000741	marker/mechanism	16038251
C0002874	clozapine	D003024	5786-21-0	anemia, aplastic	MESH:D000741	marker/mechanism	12866349
C0002874	cyclophosphamide	D003520	50-18-0	anemia, aplastic	MESH:D000741	therapeutic	3377871
C0002874	cyclosporine	D016572	59865-13-3	anemia, aplastic	MESH:D000741	marker/mechanism	15493589
C0002874	cyclosporine	D016572	59865-13-3	anemia, aplastic	MESH:D000741	therapeutic	10342591
C0002874	dapsone	D003622	80-08-0	anemia, aplastic	MESH:D000741	marker/mechanism	16038251
C0002874	diclofenac	D004008	15307-86-5	anemia, aplastic	MESH:D000741	marker/mechanism	2606642
C0002874	ethosuximide	D005013	77-67-8	anemia, aplastic	MESH:D000741	marker/mechanism	6424403
C0002874	fenoprofen	D005279	31879-05-7	anemia, aplastic	MESH:D000741	marker/mechanism	6803950
C0002874	fluorouracil	D005472	51-21-8	anemia, aplastic	MESH:D000741	marker/mechanism	11877074
C0002874	fluoxetine	D005473	54910-89-3	anemia, aplastic	MESH:D000741	marker/mechanism	9546514
C0002874	folic acid	D005492	59-30-3	anemia, aplastic	MESH:D000741	therapeutic	12028229
C0002874	indomethacin	D007213	53-86-1	anemia, aplastic	MESH:D000741	marker/mechanism	122219
C0002874	lenalidomide	C467567	-	anemia, aplastic	MESH:D000741	marker/mechanism	19018868
C0002874	lidocaine	D008012	137-58-6	anemia, aplastic	MESH:D000741	marker/mechanism	4043136
C0002874	lindane	D001556	58-89-9	anemia, aplastic	MESH:D000741	marker/mechanism	1700687
C0002874	mefloquine	D015767	53230-10-7	anemia, aplastic	MESH:D000741	marker/mechanism	8161647
C0002874	mephenytoin	D008617	1950/12/4	anemia, aplastic	MESH:D000741	marker/mechanism	1001284
C0002874	meprobamate	D008620	57-53-4	anemia, aplastic	MESH:D000741	marker/mechanism	5092569
C0002874	methotrexate	D008727	1959/5/2	anemia, aplastic	MESH:D000741	marker/mechanism	10592889
C0002874	metolazone	D008788	17560-51-9	anemia, aplastic	MESH:D000741	marker/mechanism	448877
C0002874	mitomycin	D016685	1950/7/7	anemia, aplastic	MESH:D000741	marker/mechanism	6010939
C0002874	nizatidine	D016567	76963-41-2	anemia, aplastic	MESH:D000741	marker/mechanism	15235935
C0002874	phenytoin	D010672	57-41-0	anemia, aplastic	MESH:D000741	marker/mechanism	12028229
C0002874	pipobroman	D010885	54-91-1	anemia, aplastic	MESH:D000741	marker/mechanism	10342591
C0002874	piroxicam	D010894	36322-90-4	anemia, aplastic	MESH:D000741	marker/mechanism	2004031
C0002874	propylthiouracil	D011441	51-52-5	anemia, aplastic	MESH:D000741	marker/mechanism	18816182
C0002874	pyrimethamine	D011739	58-14-0	anemia, aplastic	MESH:D000741	marker/mechanism	6523315
C0002874	remoxipride	D017330	80125-14-0	anemia, aplastic	MESH:D000741	marker/mechanism	10462057
C0002874	rifampin	D012293	13292-46-1	anemia, aplastic	MESH:D000741	marker/mechanism	16038251
C0002874	sulindac	D013467	38194-50-2	anemia, aplastic	MESH:D000741	marker/mechanism	2383708
C0002874	temozolomide	C047246	85622-93-1	anemia, aplastic	MESH:D000741	marker/mechanism	16648049
C0002874	ticlopidine	D013988	55142-85-3	anemia, aplastic	MESH:D000741	marker/mechanism	10629575
C0002874	valproic acid	D014635	99-66-1	anemia, aplastic	MESH:D000741	marker/mechanism	16886988

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