eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thalassemia | ||||
| Disease ID | 532 |
|---|---|
| Disease | thalassemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:64) C2707258 | infections C2678504 | osteoporosis C2613439 | extramedullary hemopoiesis C2613439 | extramedullary hematopoiesis C2613439 | extramedullary haematopoiesis C2364133 | infection C2186532 | liver disease C1963220 | pulmonary hypertension C1963148 | iron overload C1510497 | lens opacities C1393529 | vascular complications C1387532 | chronic hemolytic anemia C1384665 | hemochromatosis C1000483 | anemia C0947622 | gallstones C0947622 | gall bladder stones C0878544 | cardiomyopathy C0702094 | agranulocytosis C0600260 | obstructive lung disease C0524909 | chronic hepatitis b C0419203 | osteopathy C0398623 | hypercoagulable state C0398623 | hypercoagulability C0376544 | hematopoietic tumor C0342257 | diabetic complications C0341439 | chronic liver disease C0282609 | bone marrow tumor C0282201 | phosphaturia C0276912 | pythiosis C0271001 | siderosis C0270327 | enuresis C0268067 | renal hemosiderosis C0262471 | ent problem C0240066 | iron deficiency C0239946 | liver fibrosis C0239946 | hepatic fibrosis C0238528 | yersinia enterocolitica infection C0220847 | hepatitis c C0206255 | malaria C0042769 | virus infection C0040188 | tic disorders C0038454 | stroke C0037926 | spinal cord compression C0037140 | b virus infection C0036690 | septicemia C0034012 | delayed puberty C0024299 | lymphoma C0023223 | leg ulcer C0023222 | lower limb pain C0022729 | klebsiella infection C0019114 | hemosiderosis C0019100 | dengue hemorrhagic fever C0018995 | haemochromatosis C0018802 | congestive cardiac failure C0018801 | heart failure C0018799 | heart disease C0018099 | gout C0011860 | diabetes C0011334 | dental caries C0010823 | cmv infections C0009951 | convulsions C0007177 | cardiac tamponade C0005940 | bone disease C0002888 | megaloblastic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:33) C0282193 | iron overload | 79 C0002871 | anemia | 37 C0009450 | infection | 16 C0019196 | hepatitis c | 11 C0029456 | osteoporosis | 10 C0011847 | diabetes | 9 C0020542 | pulmonary hypertension | 8 C0037061 | siderosis | 6 C0002871 | anaemia | 6 C0162316 | iron deficiency | 6 C0018952 | extramedullary hematopoiesis | 5 C0042769 | virus infection | 4 C0021311 | infections | 3 C0005940 | bone disease | 3 C0018801 | heart failure | 3 C0038454 | stroke | 3 C0878544 | cardiomyopathy | 3 C0023223 | leg ulcer | 2 C0019114 | hemosiderosis | 2 C0018799 | heart disease | 2 C0024530 | malaria | 2 C0018995 | haemochromatosis | 1 C1387532 | chronic hemolytic anemia | 1 C0239946 | liver fibrosis | 1 C0005940 | osteopathy | 1 C0037926 | spinal cord compression | 1 C0034012 | delayed puberty | 1 C0524909 | chronic hepatitis b | 1 C1393529 | vascular complications | 1 C0018995 | hemochromatosis | 1 C0398623 | hypercoagulable state | 1 C0023895 | liver disease | 1 C0398623 | hypercoagulability | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11549407 | 15630628 | 3043 | HBB | umls:C0039730 | BeFree | This was documented in FH patients identified on the island of Sardinia, in Italy, where 12% of the inhabitants are carriers of beta-thalassemia due to a single mutation (Q39X) of the beta-globin gene that abolishes the synthesis of beta-globin chain of hemoglobin (beta(o)-thalassemia). | 0.06491701 | 2004 | HBB | 11 | 5226774 | G | T,C,A |
| rs121912748 | 18266205 | 3476 | IGBP1 | umls:C0039730 | BeFree | Of these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)). | 0.002442977 | 2008 | SLC4A1 | 17 | 44253327 | C | T |
| rs121912748 | 18266205 | 6521 | SLC4A1 | umls:C0039730 | BeFree | Of these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)). | 0.000542884 | 2008 | SLC4A1 | 17 | 44253327 | C | T |
| rs121912751 | 18266205 | 6521 | SLC4A1 | umls:C0039730 | BeFree | Of these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)). | 0.000542884 | 2008 | SLC4A1 | 17 | 44251241 | G | T |
| rs121912751 | 18266205 | 3476 | IGBP1 | umls:C0039730 | BeFree | Of these 12 patients, three had homozygous G701D/G701D and heterozygous Hb E; one compound heterozygous SAO/G701D and heterozygous alpha(+)-thalassemia; and one compound heterozygous G701D/A858D and heterozygous Hb E. Of 6 patients without SLC4A1 mutation, two each carried heterozygous or homozygous Hb E and one of the latter also had Hb H disease (--(SEA)/-alpha(4.2)). | 0.002442977 | 2008 | SLC4A1 | 17 | 44251241 | G | T |
| rs1799945 | 17637512 | 3077 | HFE | umls:C0039730 | BeFree | We determined the prevalence of the H63D and the IVS5 | |||||||
| 1G-A HFE mutations in 370 (169 males and 201 females) Thai thalassemia carriers and 201 normal subjects. | 0.013278246 | 2007 | HFE | 6 | 26090951 | C | G | ||||||
| rs186590045 | 20371604 | 51327 | AHSP | umls:C0039730 | BeFree | A kinetic analysis has been made of the interaction of alpha-Hb chains with a mutant alpha-hemoglobin stabilizing protein, AHSP(V56G), which is the first case of an AHSP mutation associated with clinical symptoms of mild thalassemia syndrome. | 0.001085767 | 2010 | AHSP | 16 | 31528549 | T | G |
| rs855791 | 25557470 | 164656 | TMPRSS6 | umls:C0039730 | BeFree | These results indicate that TMPRSS6 polymorphisms are more frequent in subjects with persistent IDA than in healthy controls, and in thalassemia carriers V736A variant may account for lower hemoglobin and MCV levels. | 0.000271442 | 2014 | TMPRSS6 | 22 | 37066896 | A | T,G |
| rs9399137 | 21791466 | 53335 | BCL11A | umls:C0039730 | BeFree | A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the -3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region. | 0.002909916 | 2011 | NA | 6 | 135097880 | 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 | 532 |
|---|---|
| Disease | thalassemia |
| Case | (Waiting for update.) |