eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| myelodysplastic syndrome | ||||
| Disease ID | 162 |
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| 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 | 32 C0023418 | leukemia | 25 C0282193 | iron overload | 19 C0023467 | acute myeloid leukemia | 19 C0002893 | refractory anemia | 11 C0040034 | thrombocytopenia | 10 C0004943 | behcet's disease | 7 C0001815 | myelofibrosis | 6 C0027947 | neutropenia | 5 C0030312 | bone marrow failure | 4 C0432412 | trisomy 8 | 4 C0085077 | sweet syndrome | 3 C0085077 | sweet's syndrome | 3 C0018133 | graft-versus-host disease | 3 C0042384 | vasculitis | 3 C0281963 | red cell aplasia | 2 C0002871 | anaemia | 2 C0021311 | infections | 2 C0030312 | pancytopenia | 2 C0085652 | pyoderma gangrenosum | 2 C0542035 | erythroid hypoplasia | 2 C0015967 | fever | 1 C0008625 | chromosomal abnormality | 1 C0002880 | autoimmune hemolytic anemia | 1 C0037285 | skin manifestations | 1 C0149678 | epstein-barr virus infection | 1 C0014457 | eosinophilia | 1 C0009450 | infection | 1 C0027019 | myelomonocytic leukemia | 1 C2609129 | autoimmune pancreatitis | 1 C0030305 | pancreatitis | 1 C0034050 | pulmonary alveolar proteinosis | 1 C0002878 | hemolytic anemia | 1 C1516669 | clonal evolution | 1 C0019080 | hemorrhage | 1 C0004364 | autoimmune disorders | 1 C1136085 | monoclonal gammopathy | 1 C0023434 | chronic lymphocytic leukemia | 1 C0026718 | mucormycosis | 1 C1868810 | neutrophilic panniculitis | 1 C0085669 | acute leukemia | 1 C0264383 | organizing pneumonia | 1 C0040053 | thrombosis | 1 C0034902 | pure red cell aplasia | 1 C0019621 | langerhans cell histiocytosis | 1 C0014743 | erythema nodosum | 1 C0948976 | leukemia cutis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
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| 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) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 162 |
|---|---|
| Disease | myelodysplastic syndrome |
| Case | (Waiting for update.) |