eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| aregenerative anemia | ||||
| Disease ID | 1731 |
|---|---|
| Disease | aregenerative anemia |
| Definition | A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy. |
| Synonym | anemia refractory anemia, refractory anemia, refractory [disease/finding] anemias, refractory ra refractory anaemia refractory anaemia (disorder) refractory anaemia -retired- refractory anemia refractory anemia (disorder) refractory anemia (morphologic abnormality) refractory anemia (ra) refractory anemia -retired- refractory anemia, nos refractory anemias |
| Orphanet | |
| OMIM | |
| UMLS | C0002893 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0026986 | myelodysplastic syndrome | 10 C0026986 | myelodysplastic syndromes | 4 C0023890 | liver cirrhosis | 1 C0035078 | renal failure | 1 C0242379 | lung cancer | 1 C0022661 | chronic renal failure | 1 C0598894 | monocytic leukemia | 1 C0282193 | iron overload | 1 C0149925 | small cell lung cancer | 1 C0019114 | hemosiderosis | 1 C0152095 | trisomy 13 | 1 C0014084 | ollier's disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1731 |
|---|---|
| Disease | aregenerative anemia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0002863 | Myelodysplastic syndrome | 10 HP:0012325 | Chronic myelomonocytic leukemia | 1 HP:0000083 | Renal insufficiency | 1 HP:0010972 | Anemia of inadequate production | 1 HP:0002664 | Neoplasia | 1 HP:0100252 | Diaphyseal dysplasia | 1 HP:0003774 | End-stage renal failure | 1 HP:0030357 | Small cell lung carcinoma | 1 |
| Disease ID | 1731 |
|---|---|
| Disease | aregenerative anemia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs386626619 | 23594705 | 23451 | SF3B1 | umls:C0002893 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.002985861 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 20194893 | 3717 | JAK2 | umls:C0002893 | BeFree | Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. | 0.011354408 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 23594705 | 10992 | SF3B2 | umls:C0002893 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.002171535 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23594705 | 3717 | JAK2 | umls:C0002893 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.011354408 | 2013 | NA | NA | NA | NA | NA |
| rs77375493 | 20194893 | 3717 | JAK2 | umls:C0002893 | BeFree | Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. | 0.011354408 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23594705 | 3717 | JAK2 | umls:C0002893 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.011354408 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23594705 | 23451 | SF3B1 | umls:C0002893 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.002985861 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23594705 | 10992 | SF3B2 | umls:C0002893 | BeFree | Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. | 0.002171535 | 2013 | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1731 |
|---|---|
| Disease | aregenerative anemia |
| Case | (Waiting for update.) |