eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemolytic anemia | ||||
| Disease ID | 789 |
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| Disease | hemolytic anemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:37) C2697310 | sarcoidosis C2613439 | extramedullary hematopoiesis C2364133 | infection C1963148 | iron overload C1963124 | hemoglobinuria C1801950 | g syndrome C1280080 | posterior mediastinum C0948600 | organ failure C0947622 | gallstones C0878544 | myocardiopathies C0878544 | cardiomyopathy C0877221 | erythroblastopenia C0752303 | urological manifestations C0746604 | mitral valve endocarditis C0553720 | spherocytosis C0521530 | pulmonary consolidation C0409974 | lupus erythematosus C0398564 | adenylate kinase deficiency C0398563 | hexokinase deficiency C0264490 | acute respiratory failure C0235574 | intravascular hemolysis C0151773 | bone marrow hypoplasia C0079772 | t cell lymphoma C0040188 | tic disorder C0040053 | thrombosis C0034902 | pure red cell aplasia C0032453 | relapsing polychondritis C0032302 | mycoplasma pneumoniae pneumonia C0032285 | pneumoniae C0030472 | paraneoplastic syndrome C0026848 | myopathy C0026654 | moyamoya syndrome C0023470 | myelogenous leukemia C0022660 | acute renal failure C0017920 | glucose-6-phosphate dehydrogenase deficiency C0008312 | primary biliary cirrhosis C0002874 | erythroid aplasia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:17) C0017920 | glucose-6-phosphate dehydrogenase deficiency | 7 C0009450 | infection | 5 C0022660 | acute renal failure | 4 C0019048 | hemoglobinuria | 3 C0032285 | pneumoniae | 2 C0235574 | intravascular hemolysis | 2 C0553720 | spherocytosis | 2 C0018952 | extramedullary hematopoiesis | 2 C0040188 | tic disorder | 1 C0752303 | urological manifestations | 1 C0948600 | organ failure | 1 C0008350 | gallstones | 1 C0040053 | thrombosis | 1 C0020542 | pulmonary hypertension | 1 C0032708 | porphyria | 1 C0034902 | pure red cell aplasia | 1 C0409974 | lupus erythematosus | 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 |
| rs1127354 | 26030972 | 3704 | ITPA | umls:C0002878 | BeFree | Significant association of ITPA gene rs1127354 with protection against RB V-induced hemolytic anemia was found in Ukrainian patients with CHC infection. | 0.127177041 | 2015 | ITPA | 20 | 3213196 | C | A,G,T |
| rs121912751 | 22126643 | 6521 | SLC4A1 | umls:C0002878 | BeFree | dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state. | 0.12680591 | 2012 | SLC4A1 | 17 | 44251241 | G | T |
| rs1800562 | 15865084 | 3077 | HFE | umls:C0002878 | BeFree | Heterozygosityfor the C282Y mutation in HFE contributes to iron accumulation and fibrosis progression in chronic hepatitis C. Ribavirin could cause dose-dependent reversible haemolytic anaemia, which can be managed with dose reductions or with administration of epoetin alpha at 40,000 IU once weekly without sacrificing the optimal dosing of ribavarin. | 0.000814326 | 2005 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 9753042 | 3077 | HFE | umls:C0002878 | BeFree | We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended family with inherited haemolytic anaemia in which several members exhibited iron overload. | 0.000814326 | 1998 | HFE | 6 | 26092913 | G | A |
| rs1800562 | 19380292 | 3077 | HFE | umls:C0002878 | BeFree | This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. | 0.000814326 | 2009 | HFE | 6 | 26092913 | G | A |
| rs33924146 | NA | 3043 | HBB | umls:C0002878 | CLINVAR | NA | 0.121628651 | NA | HBB | 11 | 5226765 | A | G,C |
| rs371489738 | 22139979 | 2539 | G6PD | umls:C0002878 | BeFree | In addition, seven new mutations were found: three presented with acute hemolytic anemia following oxidative stress [G6PD Nice (c.1380G>C, p.Glu460Asp), G6PD Roubaix (c.811G>C, p.Val271Leu), and G6PD Toledo (c.496C>T, p.Arg166Cys)], three with different degrees of chronic hemolytic anemia [G6PD Lille (c.821A>T, p.Glu274Val), G6PD Villeurbanne (c.1000_1002delACC, p.Thr334del), and G6PD Amiens (c.1367A>T, p.Asp456Val)] and one found fortuitously G6PD Montpellier (c.1132G>A, p.Gly378Ser). | 0.144926502 | 2012 | G6PD | X | 154532722 | C | T |
| rs386545618 | 11916749 | 2539 | G6PD | umls:C0002878 | BeFree | Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer). | 0.144926502 | 2002 | NA | NA | NA | NA | NA |
| rs386545618 | 11916749 | 4524 | MTHFR | umls:C0002878 | BeFree | Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer). | 0.000542884 | 2002 | NA | NA | NA | NA | NA |
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 | 789 |
|---|---|
| Disease | hemolytic anemia |
| Case | (Waiting for update.) |