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	aplastic anemia

Disease ID	376
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:77) C0030312 \| pancytopenia \| 7 C0409974 \| lupus erythematosus \| 6 C0026718 \| mucormycosis \| 5 C0024141 \| systemic lupus erythematosus \| 5 C0019158 \| hepatitis \| 4 C0002871 \| anemia \| 4 C0030312 \| bone marrow failure \| 3 C0040034 \| thrombocytopenia \| 3 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 3 C0019048 \| hemoglobinuria \| 3 C0041327 \| pulmonary tuberculosis \| 2 C0042721 \| viral hepatitis \| 2 C0009324 \| ulcerative colitis \| 2 C0282193 \| iron overload \| 2 C0007570 \| celiac disease \| 2 C0015645 \| fasciitis \| 2 C0041296 \| tuberculosis \| 2 C0024299 \| lymphoma \| 2 C0019196 \| hepatitis c \| 2 C0024141 \| systemic lupus erythematosis \| 2 C0024790 \| paroxysmal nocturnal haemoglobinuria \| 2 C0023418 \| leukemia \| 2 C0085273 \| parvovirus b19 infection \| 2 C0008049 \| varicella \| 1 C0009319 \| colitis \| 1 C0040558 \| toxoplasmosis \| 1 C0001815 \| myelofibrosis \| 1 C0004030 \| aspergillosis \| 1 C0018418 \| gynaecomastia \| 1 C0007102 \| colon cancer \| 1 C0023470 \| myeloid leukemia \| 1 C0024623 \| gastric cancer \| 1 C0026769 \| multiple sclerosis \| 1 C0007570 \| coeliac disease \| 1 C0023465 \| acute monocytic leukemia \| 1 C0272170 \| shwachman-diamond syndrome \| 1 C0155765 \| microangiopathy \| 1 C0021053 \| immune disorder \| 1 C0040100 \| thymoma \| 1 C0019196 \| viral hepatitis c \| 1 C0015625 \| fanconi anemia \| 1 C0039730 \| thalassemia \| 1 C0079731 \| b-cell lymphoma \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria (pnh) \| 1 C0085278 \| antiphospholipid syndrome \| 1 C1368107 \| bone marrow aplasia \| 1 C0085669 \| acute leukemia \| 1 C0016470 \| food allergies \| 1 C0002886 \| macrocytic anemia \| 1 C0024314 \| lymphoproliferative disorder \| 1 C0024312 \| lymphopenia \| 1 C0023467 \| acute myelogenous leukemia (aml) \| 1 C0042769 \| virus infection \| 1 C0019045 \| hemoglobinopathies \| 1 C0001815 \| primary myelofibrosis \| 1 C0281963 \| red cell aplasia \| 1 C0238124 \| necrotizing fasciitis \| 1 C0014118 \| endocarditis \| 1 C0085110 \| severe combined immunodeficiency \| 1 C0007113 \| rectal cancer \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0023467 \| acute myelocytic leukemia \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0009402 \| colorectal cancer \| 1 C0018784 \| sensorineural hearing loss \| 1 C0019655 \| histoplasmosis \| 1 C0021053 \| immune disease \| 1 C0023470 \| myelocytic leukemia \| 1 C0002874 \| aplastic anemia \| 1 C0014038 \| encephalitis \| 1 C0001824 \| granulocytopenia \| 1 C0022735 \| klinefelter syndrome \| 1 C0027947 \| neutropenia \| 1 C0085110 \| severe combined immunodefic \| 1 C0035078 \| renal failure \| 1 C0024314 \| lymphoproliferative disorders \| 1 C0040053 \| thrombosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:47) 6231 \| RPS26 \| UniProtKB-KW;GHR 1440 \| CSF3 \| CTD_human 3458 \| IFNG \| CTD_human 6165 \| RPL35A \| UniProtKB-KW;GHR 7015 \| TERT \| CLINVAR;CTD_human 2188 \| FANCF \| UniProtKB-KW;GHR 83990 \| BRIP1 \| UniProtKB-KW;GHR 7012 \| TERC \| CLINVAR;CTD_human 22 \| ABCB7 \| GHR 6135 \| RPL11 \| UniProtKB-KW;GHR 6223 \| RPS19 \| UniProtKB-KW;GHR 6218 \| RPS17 \| UniProtKB-KW;GHR 6204 \| RPS10 \| UniProtKB-KW;GHR 5888 \| RAD51 \| UniProtKB-KW 675 \| BRCA2 \| UniProtKB-KW;GHR 6125 \| RPL5 \| UniProtKB-KW;GHR 84464 \| SLX4 \| UniProtKB-KW;GHR 6234 \| RPS28 \| UniProtKB-KW 3077 \| HFE \| GHR 2072 \| ERCC4 \| UniProtKB-KW 1437 \| CSF2 \| CTD_human 26277 \| TINF2 \| CLINVAR 90121 \| TSR2 \| UniProtKB-KW 212 \| ALAS2 \| GHR 6154 \| RPL26 \| UniProtKB-KW 6155 \| RPL27 \| UniProtKB-KW 2175 \| FANCA \| UniProtKB-KW;GHR 4683 \| NBN \| CLINVAR 6201 \| RPS7 \| UniProtKB-KW;GHR 79728 \| PALB2 \| UniProtKB-KW;GHR 57697 \| FANCM \| GHR 2189 \| FANCG \| UniProtKB-KW;GHR 2177 \| FANCD2 \| UniProtKB-KW;GHR 5889 \| RAD51C \| UniProtKB-KW;GHR 55120 \| FANCL \| UniProtKB-KW;GHR 2178 \| FANCE \| UniProtKB-KW;GHR 2187 \| FANCB \| UniProtKB-KW;GHR 6138 \| RPL15 \| UniProtKB-KW 5551 \| PRF1 \| CLINVAR 2176 \| FANCC \| UniProtKB-KW;GHR 6232 \| RPS27 \| UniProtKB-KW 6235 \| RPS29 \| UniProtKB-KW 7516 \| XRCC2 \| UniProtKB-KW 55215 \| FANCI \| UniProtKB-KW;GHR 6229 \| RPS24 \| UniProtKB-KW;GHR 29089 \| UBE2T \| UniProtKB-KW 10459 \| MAD2L2 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 3105 \| HLA-A \| CIPHER 3106 \| HLA-B \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 7012 \| TERC \| CIPHER;CTD_human 7013 \| TERF1 \| CIPHER 7014 \| TERF2 \| CIPHER 7015 \| TERT \| CIPHER;CTD_human 3077 \| HFE \| CIPHER 3458 \| IFNG \| CIPHER;CTD_human 1440 \| CSF3 \| CTD_human 1437 \| CSF2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:246) 25 \| ABL1 \| 1.196 \| DISEASES 86 \| ACTL6A \| 1.291 \| DISEASES 100 \| ADA \| 1.311 \| DISEASES 105 \| ADARB2 \| 1.829 \| DISEASES 212 \| ALAS2 \| 5.775 \| DISEASES 22852 \| ANKRD26 \| 1.409 \| DISEASES 55107 \| ANO1 \| 2.123 \| DISEASES 171023 \| ASXL1 \| 2.037 \| DISEASES 23545 \| ATP6V0A2 \| 1.187 \| DISEASES 84126 \| ATRIP \| 3.377 \| DISEASES 546 \| ATRX \| 1.379 \| DISEASES 567 \| B2M \| 1.995 \| DISEASES 29086 \| BABAM1 \| 1.047 \| DISEASES 54880 \| BCOR \| 1.969 \| DISEASES 641 \| BLM \| 3.375 \| DISEASES 8315 \| BRAP \| 1.025 \| DISEASES 672 \| BRCA1 \| 4.913 \| DISEASES 675 \| BRCA2 \| 5.457 \| DISEASES 79184 \| BRCC3 \| 2.17 \| DISEASES 7862 \| BRPF1 \| 1.077 \| DISEASES 930 \| CD19 \| 1.813 \| DISEASES 914 \| CD2 \| 2.639 \| DISEASES 959 \| CD40LG \| 3.762 \| DISEASES 962 \| CD48 \| 2.848 \| DISEASES 921 \| CD5 \| 1.182 \| DISEASES 1043 \| CD52 \| 3.072 \| DISEASES 966 \| CD59 \| 4.412 \| DISEASES 1111 \| CHEK1 \| 3.763 \| DISEASES 11200 \| CHEK2 \| 2.273 \| DISEASES 5119 \| CHMP1A \| 1.495 \| DISEASES 23601 \| CLEC5A \| 1.074 \| DISEASES 1378 \| CR1 \| 1.118 \| DISEASES 7812 \| CSDE1 \| 1.245 \| DISEASES 1435 \| CSF1 \| 1.253 \| DISEASES 1441 \| CSF3R \| 1.414 \| DISEASES 9937 \| DCLRE1A \| 4.278 \| DISEASES 64858 \| DCLRE1B \| 4.119 \| DISEASES 64421 \| DCLRE1C \| 1.088 \| DISEASES 1663 \| DDX11 \| 3.78 \| DISEASES 51428 \| DDX41 \| 2.28 \| DISEASES 1719 \| DHFR \| 1.226 \| DISEASES 1736 \| DKC1 \| 4.414 \| DISEASES 1763 \| DNA2 \| 3.099 \| DISEASES 10455 \| ECI2 \| 1.472 \| DISEASES 10938 \| EHD1 \| 1.191 \| DISEASES 1995 \| ELAVL3 \| 1.109 \| DISEASES 146956 \| EME1 \| 2.567 \| DISEASES 5169 \| ENPP3 \| 1.383 \| DISEASES 56943 \| ENY2 \| 1.183 \| DISEASES 51513 \| ETV7 \| 1.027 \| DISEASES 84142 \| FAM175A \| 1.196 \| DISEASES 22909 \| FAN1 \| 3.676 \| DISEASES 2175 \| FANCA \| 7.38 \| DISEASES 2187 \| FANCB \| 4.339 \| DISEASES 2188 \| FANCF \| 6.017 \| DISEASES 2189 \| FANCG \| 6.425 \| DISEASES 55120 \| FANCL \| 5.733 \| DISEASES 355 \| FAS \| 1.536 \| DISEASES 356 \| FASLG \| 2.369 \| DISEASES 84893 \| FBXO18 \| 2.818 \| DISEASES 2214 \| FCGR3A \| 2.846 \| DISEASES 2235 \| FECH \| 2.382 \| DISEASES 2323 \| FLT3LG \| 1.612 \| DISEASES 28982 \| FLVCR1 \| 3.594 \| DISEASES 50943 \| FOXP3 \| 2.427 \| DISEASES 2526 \| FUT4 \| 1.971 \| DISEASES 2395 \| FXN \| 2.209 \| DISEASES 53827 \| FXYD5 \| 1.268 \| DISEASES 2623 \| GATA1 \| 3.567 \| DISEASES 2624 \| GATA2 \| 3.749 \| DISEASES 2625 \| GATA3 \| 1.797 \| DISEASES 199720 \| GGN \| 1.737 \| DISEASES 449520 \| GGNBP1 \| 3.147 \| DISEASES 51218 \| GLRX5 \| 3.783 \| DISEASES 2770 \| GNAI1 \| 1.218 \| DISEASES 29933 \| GPR132 \| 1.191 \| DISEASES 165829 \| GPR156 \| 2.452 \| DISEASES 11245 \| GPR176 \| 1.266 \| DISEASES 2993 \| GYPA \| 3.072 \| DISEASES 2994 \| GYPB \| 1.512 \| DISEASES 3014 \| H2AFX \| 3.03 \| DISEASES 3043 \| HBB \| 2.858 \| DISEASES 3077 \| HFE \| 1.88 \| DISEASES 148738 \| HFE2 \| 1.402 \| DISEASES 3105 \| HLA-A \| 3.918 \| DISEASES 3106 \| HLA-B \| 2.552 \| DISEASES 3123 \| HLA-DRB1 \| 2.475 \| DISEASES 3214 \| HOXB4 \| 1.338 \| DISEASES 3240 \| HP \| 2.212 \| DISEASES 3400 \| ID4 \| 1.412 \| DISEASES 414328 \| IDNK \| 1.832 \| DISEASES 3430 \| IFI35 \| 1.107 \| DISEASES 3605 \| IL17A \| 1.496 \| DISEASES 25896 \| INTS7 \| 1.599 \| DISEASES 55656 \| INTS8 \| 1.265 \| DISEASES 79711 \| IPO4 \| 1.691 \| DISEASES 3676 \| ITGA4 \| 1.751 \| DISEASES 3717 \| JAK2 \| 2.044 \| DISEASES 10524 \| KAT5 \| 1.472 \| DISEASES 3767 \| KCNJ11 \| 1.953 \| DISEASES 3800 \| KIF5C \| 1.134 \| DISEASES 3981 \| LIG4 \| 1.511 \| DISEASES 4049 \| LTA \| 1.575 \| DISEASES 58530 \| LY6G6D \| 1.46 \| DISEASES 4094 \| MAF \| 1.042 \| DISEASES 9261 \| MAPKAPK2 \| 1.659 \| DISEASES 4145 \| MATK \| 1.413 \| DISEASES 84515 \| MCM8 \| 1.857 \| DISEASES 9656 \| MDC1 \| 2.704 \| DISEASES 4191 \| MDH2 \| 2.233 \| DISEASES 10933 \| MORF4L1 \| 2.04 \| DISEASES 4352 \| MPL \| 3.94 \| DISEASES 4478 \| MSN \| 1.62 \| DISEASES 4519 \| MT-CYB \| 1.133 \| DISEASES 4556 \| MT-TE \| 1.568 \| DISEASES 4563 \| MT-TG \| 1.047 \| DISEASES 4700 \| NDUFA6 \| 1.102 \| DISEASES 79661 \| NEIL1 \| 1.371 \| DISEASES 4773 \| NFATC2 \| 1.313 \| DISEASES 84504 \| NKX6-2 \| 1.911 \| DISEASES 55505 \| NOP10 \| 3.454 \| DISEASES 4893 \| NRAS \| 1.321 \| DISEASES 51686 \| OAZ3 \| 1.461 \| DISEASES 142 \| PARP1 \| 2.89 \| DISEASES 5143 \| PDE4C \| 1.145 \| DISEASES 57162 \| PELI1 \| 1.14 \| DISEASES 5230 \| PGK1 \| 1.205 \| DISEASES 5277 \| PIGA \| 4.996 \| DISEASES 93183 \| PIGM \| 1.091 \| DISEASES 64219 \| PJA1 \| 1.754 \| DISEASES 9867 \| PJA2 \| 1.832 \| DISEASES 5429 \| POLH \| 1.166 \| DISEASES 353497 \| POLN \| 2.707 \| DISEASES 56978 \| PRDM8 \| 1.569 \| DISEASES 10196 \| PRMT3 \| 1.109 \| DISEASES 5688 \| PSMA7 \| 3.187 \| DISEASES 10213 \| PSMD14 \| 1.115 \| DISEASES 5781 \| PTPN11 \| 1.264 \| DISEASES 5788 \| PTPRC \| 1.709 \| DISEASES 80324 \| PUS1 \| 3.965 \| DISEASES 5884 \| RAD17 \| 1.297 \| DISEASES 5888 \| RAD51 \| 5.166 \| DISEASES 5889 \| RAD51C \| 4.788 \| DISEASES 5892 \| RAD51D \| 2.785 \| DISEASES 5893 \| RAD52 \| 1.86 \| DISEASES 5932 \| RBBP8 \| 1.649 \| DISEASES 9939 \| RBM8A \| 1.639 \| DISEASES 5965 \| RECQL \| 2.175 \| DISEASES 5980 \| REV3L \| 2.492 \| DISEASES 5985 \| RFC5 \| 1.456 \| DISEASES 55159 \| RFWD3 \| 2.861 \| DISEASES 64864 \| RFX7 \| 2.117 \| DISEASES 165918 \| RNF168 \| 2.693 \| DISEASES 9025 \| RNF8 \| 3.022 \| DISEASES 140823 \| ROMO1 \| 1.115 \| DISEASES 6118 \| RPA2 \| 1.58 \| DISEASES 4736 \| RPL10A \| 1.105 \| DISEASES 6135 \| RPL11 \| 5.427 \| DISEASES 6136 \| RPL12 \| 1.35 \| DISEASES 9045 \| RPL14 \| 2.096 \| DISEASES 6144 \| RPL21 \| 1.948 \| DISEASES 6147 \| RPL23A \| 1.287 \| DISEASES 6157 \| RPL27A \| 1.305 \| DISEASES 6160 \| RPL31 \| 1.396 \| DISEASES 6165 \| RPL35A \| 5.149 \| DISEASES 6173 \| RPL36A \| 2.551 \| DISEASES 6166 \| RPL36AL \| 3.114 \| DISEASES 6170 \| RPL39 \| 1.247 \| DISEASES 6125 \| RPL5 \| 5.303 \| DISEASES 6129 \| RPL7 \| 2.388 \| DISEASES 6130 \| RPL7A \| 1.126 \| DISEASES 6133 \| RPL9 \| 1.46 \| DISEASES 6176 \| RPLP1 \| 1.281 \| DISEASES 6181 \| RPLP2 \| 1.268 \| DISEASES 6204 \| RPS10 \| 4.143 \| DISEASES 6209 \| RPS15 \| 2.582 \| DISEASES 6218 \| RPS17 \| 5.227 \| DISEASES 6223 \| RPS19 \| 6.15 \| DISEASES 91582 \| RPS19BP1 \| 1.281 \| DISEASES 6187 \| RPS2 \| 1.376 \| DISEASES 6224 \| RPS20 \| 1.783 \| DISEASES 6229 \| RPS24 \| 4.939 \| DISEASES 6230 \| RPS25 \| 1.859 \| DISEASES 6231 \| RPS26 \| 4.521 \| DISEASES 6232 \| RPS27 \| 1.91 \| DISEASES 6234 \| RPS28 \| 2.289 \| DISEASES 6235 \| RPS29 \| 2.737 \| DISEASES 6188 \| RPS3 \| 1.774 \| DISEASES 6189 \| RPS3A \| 1.326 \| DISEASES 6191 \| RPS4X \| 1.02 \| DISEASES 6194 \| RPS6 \| 1.925 \| DISEASES 6201 \| RPS7 \| 1.76 \| DISEASES 51750 \| RTEL1 \| 2.443 \| DISEASES 6288 \| SAA1 \| 5.453 \| DISEASES 49855 \| SCAPER \| 1.57 \| DISEASES 118980 \| SFXN2 \| 2.414 \| DISEASES 4068 \| SH2D1A \| 3.304 \| DISEASES 51312 \| SLC25A37 \| 1.805 \| DISEASES 55972 \| SLC25A40 \| 1.128 \| DISEASES 83650 \| SLC35G5 \| 2.113 \| DISEASES 79008 \| SLX1B \| 3.919 \| DISEASES 6597 \| SMARCA4 \| 1.11 \| DISEASES 677825 \| SNORA44 \| 1.289 \| DISEASES 27131 \| SNX5 \| 2.465 \| DISEASES 10638 \| SPHAR \| 1.864 \| DISEASES 6708 \| SPTA1 \| 1.816 \| DISEASES 6709 \| SPTAN1 \| 1.831 \| DISEASES 6711 \| SPTBN1 \| 1.533 \| DISEASES 6731 \| SRP72 \| 2.686 \| DISEASES 6772 \| STAT1 \| 1.591 \| DISEASES 6775 \| STAT4 \| 1.448 \| DISEASES 6776 \| STAT5A \| 1.925 \| DISEASES 8803 \| SUCLA2 \| 1.496 \| DISEASES 6938 \| TCF12 \| 1.153 \| DISEASES 7062 \| TCHH \| 1.161 \| DISEASES 732253 \| TDRG1 \| 1.801 \| DISEASES 7012 \| TERC \| 4.419 \| DISEASES 54790 \| TET2 \| 5.294 \| DISEASES 7018 \| TF \| 2.75 \| DISEASES 7037 \| TFRC \| 2.654 \| DISEASES 51337 \| THEM6 \| 1.346 \| DISEASES 7124 \| TNF \| 3.044 \| DISEASES 7138 \| TNNT1 \| 1.31 \| DISEASES 7153 \| TOP2A \| 1.282 \| DISEASES 7156 \| TOP3A \| 1.912 \| DISEASES 7158 \| TP53BP1 \| 3.129 \| DISEASES 90121 \| TSR2 \| 1.609 \| DISEASES 7272 \| TTK \| 2.904 \| DISEASES 7311 \| UBA52 \| 1.718 \| DISEASES 29089 \| UBE2T \| 5.064 \| DISEASES 55284 \| UBE2W \| 1.923 \| DISEASES 51720 \| UIMC1 \| 2.933 \| DISEASES 55898 \| UNC45A \| 1.808 \| DISEASES 7398 \| USP1 \| 4.855 \| DISEASES 64854 \| USP46 \| 2.387 \| DISEASES 7490 \| WT1 \| 1.667 \| DISEASES 7507 \| XPA \| 2.9 \| DISEASES 7516 \| XRCC2 \| 3.221 \| DISEASES 7517 \| XRCC3 \| 2.171 \| DISEASES 7518 \| XRCC4 \| 1.362 \| DISEASES 2547 \| XRCC6 \| 1.463 \| DISEASES 22803 \| XRN2 \| 1.151 \| DISEASES 51067 \| YARS2 \| 3.219 \| DISEASES 26137 \| ZBTB20 \| 1.498 \| DISEASES 92822 \| ZNF276 \| 2.395 \| DISEASES 54993 \| ZSCAN2 \| 2.797 \| DISEASES
Locus	(Waiting for update.)

Disease ID	376
Disease	aplastic anemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:57) HP:0001876 \| Low blood cell count \| 7 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 5 HP:0002725 \| Systemic lupus erythematosus \| 5 HP:0012115 \| Liver inflammation \| 4 HP:0001903 \| Anemia \| 4 HP:0003641 \| Hemoglobin in urine \| 3 HP:0005528 \| Bone marrow hypoplasia \| 3 HP:0001873 \| Low platelet count \| 3 HP:0100537 \| Inflammation of the fascia \| 2 HP:0002608 \| Celiac disease \| 2 HP:0001909 \| Leukemia \| 2 HP:0006562 \| Viral hepatitis \| 2 HP:0002665 \| Lymphoma \| 2 HP:0100279 \| Ulcerative colitis \| 2 HP:0001972 \| Macrocytic anemia \| 1 HP:0012410 \| Pure red cell aplasia \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0004845 \| Acute monoblastic leukemia \| 1 HP:0004430 \| Severe combined immunodeficiency \| 1 HP:0002583 \| Colitis \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0002383 \| Encephalitis \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0005305 \| Cerebral vein thrombosis \| 1 HP:0001875 \| Neutropenia \| 1 HP:0100522 \| Thymoma \| 1 HP:0012190 \| T cell lymphoma \| 1 HP:0001250 \| Seizures \| 1 HP:0002835 \| Aspiration \| 1 HP:0100584 \| Endocarditis \| 1 HP:0012126 \| Gastric cancer \| 1 HP:0000132 \| Hypermenorrhea \| 1 HP:0005523 \| Lymphoproliferative disorder \| 1 HP:0045029 \| Eosinophilic fasciitis \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0000716 \| Depression \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0001888 \| Lymphocytopenia \| 1 HP:0002745 \| Oral idiopathic leukoplakia \| 1 HP:0001399 \| Liver failure \| 1 HP:0005506 \| Chronic myeloid leukemia \| 1 HP:0001945 \| Fever \| 1 HP:0012378 \| Fatigue \| 1 HP:0001913 \| Granulocytopenia \| 1 HP:0030150 \| Plasmacytosis \| 1 HP:0006349 \| Agenesis of permanent dentition \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0011974 \| Myelofibrosis \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0003003 \| Colon cancer \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0005387 \| Combined immunodeficiency \| 1

Disease ID	376
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:20) C0030312 \| pancytopenia \| 7 C0009450 \| infection \| 6 C0019080 \| hemorrhage \| 5 C0019158 \| hepatitis \| 4 C0024141 \| systemic lupus erythematosus \| 4 C0040034 \| thrombocytopenia \| 3 C1516669 \| clonal evolution \| 3 C0085274 \| parvovirus b19 \| 3 C0021311 \| infections \| 3 C0030312 \| bone marrow failure \| 3 C0009324 \| ulcerative colitis \| 2 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 2 C0024790 \| paroxysmal nocturnal haemoglobinuria \| 2 C0019196 \| hepatitis c \| 2 C0021079 \| immunosuppression \| 2 C0024790 \| paroxysmal nocturnal hemoglobinuria (pnh) \| 1 C0040100 \| thymoma \| 1 C0004030 \| aspergillosis \| 1 C0040053 \| thrombosis \| 1 C0151773 \| bone marrow depression \| 1

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

Text Mining Genotype(Total 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.)

Disease ID	376
Disease	aplastic anemia
Case	(Waiting for update.)