eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| alpha-thalassemia | ||||
| Disease ID | 71 |
|---|---|
| Disease | alpha-thalassemia |
| Definition | A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. |
| Synonym | a-thalassemia alpha thalassaemia alpha thalassaemia syndrome alpha thalassemia alpha thalassemia (disorder) alpha thalassemia syndrome alpha thalassemia, nos alpha thalassemias alpha-thalassaemia alpha-thalassemia [disease/finding] alpha-thalassemias disease, hemoglobin h hemoglobin h dis hemoglobin h disease thalassemia alpha thalassemia, alpha thalassemia-alpha |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0002312 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0836924 | thrombocytosis | 1 C0020538 | hypertension | 1 C0002871 | anemia | 1 C0039730 | thalassaemia | 1 C0085576 | microcytic anemia | 1 C0017920 | g6pd deficiency | 1 C0020542 | pulmonary hypertension | 1 C0005283 | beta thalassaemia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:123) 65985 | AACS | 2.431 | DISEASES 65985 | AACS | 2.085 | DISEASES 60 | ACTB | 1.024 | DISEASES 103 | ADAR | 1.044 | DISEASES 84890 | ADO | 1.944 | DISEASES 203 | AK1 | 3.59 | DISEASES 203 | AK1 | 3.023 | DISEASES 1646 | AKR1C2 | 1.061 | DISEASES 493 | ATP2B4 | 1.272 | DISEASES 546 | ATRX | 7.256 | DISEASES 546 | ATRX | 4.539 | DISEASES 8938 | BAIAP3 | 2.334 | DISEASES 53335 | BCL11A | 2.699 | DISEASES 617 | BCS1L | 6.684 | DISEASES 617 | BCS1L | 6.525 | DISEASES 390259 | BSX | 2.466 | DISEASES 390259 | BSX | 1.899 | DISEASES 10950 | BTG3 | 1.299 | DISEASES 966 | CD59 | 1.841 | DISEASES 146059 | CDAN1 | 2.723 | DISEASES 146059 | CDAN1 | 2.155 | DISEASES 1107 | CHD3 | 2.118 | DISEASES 285440 | CYP4V2 | 1.251 | DISEASES 245909 | DEFB106A | 2.761 | DISEASES 245909 | DEFB106A | 2.194 | DISEASES 503841 | DEFB106B | 2.761 | DISEASES 503841 | DEFB106B | 2.194 | DISEASES 1761 | DMRT1 | 1.284 | DISEASES 8818 | DPM2 | 2.077 | DISEASES 953 | ENTPD1 | 2.403 | DISEASES 2035 | EPB41 | 3.147 | DISEASES 2035 | EPB41 | 2.938 | DISEASES 2048 | EPHB2 | 1.119 | DISEASES 57119 | EPPIN | 2.014 | DISEASES 646480 | FABP9 | 1.455 | DISEASES 131177 | FAM3D | 2.332 | DISEASES 2204 | FCAR | 1.029 | DISEASES 22862 | FNDC3A | 1.174 | DISEASES 2290 | FOXG1 | 2.016 | DISEASES 2290 | FOXG1 | 1.993 | DISEASES 9555 | H2AFY | 1.944 | DISEASES 3020 | H3F3A | 2.366 | DISEASES 3039 | HBA1 | 5.847 | DISEASES 3039 | HBA1 | 4.864 | DISEASES 3043 | HBB | 6.464 | DISEASES 3043 | HBB | 6.032 | DISEASES 3045 | HBD | 4.778 | DISEASES 3045 | HBD | 3.926 | DISEASES 3047 | HBG1 | 4.819 | DISEASES 3047 | HBG1 | 4.227 | DISEASES 3048 | HBG2 | 2.451 | DISEASES 3042 | HBM | 3.054 | DISEASES 3042 | HBM | 2.665 | DISEASES 10767 | HBS1L | 3.037 | DISEASES 3077 | HFE | 1.134 | DISEASES 8350 | HIST1H3A | 1.574 | DISEASES 8352 | HIST1H3C | 1.361 | DISEASES 8351 | HIST1H3D | 1.574 | DISEASES 8353 | HIST1H3E | 1.366 | DISEASES 8968 | HIST1H3F | 1.574 | DISEASES 8355 | HIST1H3G | 1.574 | DISEASES 8357 | HIST1H3H | 1.574 | DISEASES 8354 | HIST1H3I | 1.574 | DISEASES 8356 | HIST1H3J | 1.364 | DISEASES 3240 | HP | 2.053 | DISEASES 3476 | IGBP1 | 2.896 | DISEASES 3476 | IGBP1 | 2.484 | DISEASES 112744 | IL17F | 1.572 | DISEASES 112744 | IL17F | 1.005 | DISEASES 27152 | INTU | 2.006 | DISEASES 3652 | IPP | 1.371 | DISEASES 8242 | KDM5C | 1.092 | DISEASES 125115 | KRT40 | 3.403 | DISEASES 987 | LRBA | 4.288 | DISEASES 987 | LRBA | 3.492 | DISEASES 84061 | MAGT1 | 2.618 | DISEASES 4204 | MECP2 | 2.395 | DISEASES 81857 | MED25 | 2.138 | DISEASES 8648 | NCOA1 | 1.388 | DISEASES 4700 | NDUFA6 | 1.967 | DISEASES 4700 | NDUFA6 | 1.612 | DISEASES 126206 | NLRP5 | 2.024 | DISEASES 8131 | NPRL3 | 4.428 | DISEASES 8131 | NPRL3 | 3.336 | DISEASES 64324 | NSD1 | 1.617 | DISEASES 64324 | NSD1 | 1.138 | DISEASES 10215 | OLIG2 | 1.319 | DISEASES 4983 | OPHN1 | 2.906 | DISEASES 51227 | PIGP | 1.914 | DISEASES 5305 | PIP4K2A | 2.169 | DISEASES 5305 | PIP4K2A | 1.602 | DISEASES 56980 | PRDM10 | 1.718 | DISEASES 56980 | PRDM10 | 1.598 | DISEASES 5646 | PRSS3 | 1.09 | DISEASES 23132 | RAD54L2 | 2.839 | DISEASES 27316 | RBMX | 1.76 | DISEASES 6007 | RHD | 1.31 | DISEASES 6197 | RPS6KA3 | 1.395 | DISEASES 10313 | RTN3 | 1.581 | DISEASES 83650 | SLC35G5 | 1.454 | DISEASES 83650 | SLC35G5 | 1.064 | DISEASES 6594 | SMARCA1 | 3.865 | DISEASES 6597 | SMARCA4 | 4.692 | DISEASES 6080 | SNORA73A | 1.797 | DISEASES 6628 | SNRPB | 1.213 | DISEASES 6663 | SOX10 | 1.029 | DISEASES 6658 | SOX3 | 1.958 | DISEASES 6693 | SPN | 2.004 | DISEASES 6693 | SPN | 1.333 | DISEASES 6736 | SRY | 1.501 | DISEASES 54790 | TET2 | 2.27 | DISEASES 54790 | TET2 | 1.703 | DISEASES 7018 | TF | 2.529 | DISEASES 7018 | TF | 1.631 | DISEASES 51270 | TFDP3 | 1.025 | DISEASES 7037 | TFRC | 2.773 | DISEASES 7037 | TFRC | 2.272 | DISEASES 7148 | TNXB | 1.617 | DISEASES 7148 | TNXB | 1.049 | DISEASES 85363 | TRIM5 | 1.711 | DISEASES 7318 | UBA7 | 2.05 | DISEASES 7318 | UBA7 | 1.483 | DISEASES 7329 | UBE2I | 1.359 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 71 |
|---|---|
| Disease | alpha-thalassemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0001744 | Splenomegaly HP:0004840 | Hypochromic microcytic anemia HP:0001081 | Cholelithiasis HP:0010978 | Abnormality of immune system physiology HP:0001935 | Microcytic anemia HP:0100543 | Cognitive impairment HP:0002863 | Myelodysplasia HP:0011902 | Abnormal hemoglobin HP:0000952 | Jaundice HP:0001971 | Hypersplenism HP:0011907 | Reduced alpha/beta synthesis ratio HP:0001903 | Anemia HP:0001878 | Hemolytic anemia HP:0001789 | Hydrops fetalis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0001894 | Thrombocytosis | 1 HP:0002092 | Pulmonary artery hypertension | 1 HP:0001903 | Anemia | 1 HP:0000822 | Hypertension | 1 HP:0001935 | Microcytic anemia | 1 |
| Disease ID | 71 |
|---|---|
| Disease | alpha-thalassemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:11) C2700574 | sickle cell anemia C1963099 | myelodysplasia C1136249 | x-linked mental retardation C0151747 | renal tubular dysfunction C0036857 | severe mental retardation C0025362 | mental retardation C0024535 | falciparum malaria C0020305 | hydrops fetalis C0019114 | hemosiderosis C0014761 | erythroblastosis fetalis C0005283 | beta-thalassemia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:50) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111033603 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 172914 | T | C |
| rs11549407 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226774 | G | T,C,A |
| rs11886868 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | BCL11A | 2 | 60493111 | C | T |
| rs11886868 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | BCL11A | 2 | 60493111 | C | T |
| rs11886868 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | BCL11A | 2 | 60493111 | C | T |
| rs1799945 | 17160266 | 3077 | HFE | umls:C0002312 | BeFree | The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. | 0.002638474 | 2006 | HFE | 6 | 26090951 | C | G |
| rs1800562 | 17160266 | 3077 | HFE | umls:C0002312 | BeFree | The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. | 0.002638474 | 2006 | HFE | 6 | 26092913 | G | A |
| rs1800730 | 17160266 | 3077 | HFE | umls:C0002312 | BeFree | The aim of this study was to evaluate the prevalence of the H63D, S65C and C282Y mutations in the HFE gene among 102 individuals with alpha-thalassemia and 168 beta-thalassemia heterozygotes and to compare them with 173 control individuals without hemoglobinopathies. | 0.002638474 | 2006 | HFE | 6 | 26090957 | A | T |
| rs2071348 | 24474642 | 7954 | HBFQTL2 | umls:C0002312 | BeFree | Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. | 0.001357209 | 2014 | HBBP1 | 11 | 5242916 | T | G |
| rs2071348 | 24474642 | 3044 | HBBP1 | umls:C0002312 | BeFree | Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. | 0.000271442 | 2014 | HBBP1 | 11 | 5242916 | T | G |
| rs2071348 | 24474642 | 5367 | PMCH | umls:C0002312 | BeFree | Relationships of Swiss-type heterocellular HPFH as functions of XmnI-(G)γ and HBBP1:rs2071348 polymorphisms and HbF, HbE, MCV and MCH in HbE carriers were evaluated in 52 non-anemic and α-thalassemia-free Thai HbE carriers. | 0.002442977 | 2014 | HBBP1 | 11 | 5242916 | T | G |
| rs2297339 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | HBS1L | 6 | 135054853 | G | A |
| rs2297339 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | HBS1L | 6 | 135054853 | G | A |
| rs2297339 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | HBS1L | 6 | 135054853 | G | A |
| rs281864819 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 172982 | G | A,C,T |
| rs281864846 | 24829075 | 3039 | HBA1 | umls:C0002312 | BeFree | A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families. | 0.332899267 | 2015 | HBA2 | 16 | 173208 | G | A,T |
| rs2838513 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | LOC105377139 | 21 | 44175491 | G | A |
| rs2838513 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | LOC105377139 | 21 | 44175491 | G | A |
| rs2838513 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | LOC105377139 | 21 | 44175491 | G | A |
| rs28928878 | 24829075 | 3039 | HBA1 | umls:C0002312 | BeFree | A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] with other α-thalassemias in Malay families. | 0.332899267 | 2015 | HBA1 | 16 | 177012 | G | A,T |
| rs33914668 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5225728 | T | G,C |
| rs33915217 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226925 | C | T,G,A |
| rs33931746 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227099 | T | G,C |
| rs33944208 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227159 | G | T,C,A |
| rs33945777 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226576 | C | T,G,A |
| rs33951465 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226947 | A | T,C |
| rs33971440 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226929 | C | T,A |
| rs33972047 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226963 | T | C |
| rs33986703 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226970 | T | G,C,A |
| rs33987053 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 173520 | G | A,C,T |
| rs33994806 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227157 | G | T,C,A |
| rs34451549 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5225923 | G | A |
| rs34598529 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5227100 | T | C |
| rs34690599 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5225832 | G | C |
| rs35004220 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226820 | C | T |
| rs35497102 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226996 | TT | - |
| rs35699606 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226994 | - | C |
| rs35724775 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226924 | A | T,G |
| rs41464951 | NA | 3040 | HBA2 | umls:C0002312 | CLINVAR | NA | 0.302656922 | NA | HBA2 | 16 | 173598 | T | A,C,G |
| rs4671393 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | BCL11A | 2 | 60493816 | A | G |
| rs4671393 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | BCL11A | 2 | 60493816 | A | G |
| rs4671393 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | BCL11A | 2 | 60493816 | A | G |
| rs4895441 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | LOC105378010 | 6 | 135105435 | A | G |
| rs4895441 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | LOC105378010 | 6 | 135105435 | A | G |
| rs4895441 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | LOC105378010 | 6 | 135105435 | A | G |
| rs80356820 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226757 | G | - |
| rs80356821 | NA | 3043 | HBB | umls:C0002312 | CLINVAR | NA | 0.287197343 | NA | HBB | 11 | 5226765 | AGAA | - |
| rs9399137 | 24581976 | 4602 | MYB | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002909916 | 2014 | NA | 6 | 135097880 | T | C |
| rs9399137 | 24581976 | 53335 | BCL11A | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.003181358 | 2014 | NA | 6 | 135097880 | T | C |
| rs9399137 | 24581976 | 10767 | HBS1L | umls:C0002312 | BeFree | It was found in 26 cases that co-inheritance of α-thalassemia could lead to significant lower production of Hb F. Association of Hb F expression with the (G)γ-Xmn I polymorphism and other SNPs including rs2297339, rs2838513, rs4895441 and rs9399137 in HBS1L-MYB gene and rs4671393 and rs11886868 in BCL11A gene was therefore analyzed in the remaining 115 cases without α-thalassemia. | 0.002638474 | 2014 | NA | 6 | 135097880 | T | C |
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:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011902 | Abnormal hemoglobin | MP:0001589 | abnormal mean corpuscular hemoglobin | anomalies in the average levels of hemoglobin contained in an erythrocyte |
| HP:0004840 | Hypochromic microcytic anemia | MP:0002810 | microcytic anemia | a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s |
| HP:0001935 | Microcytic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0011907 | Reduced alpha/beta synthesis ratio | MP:0009409 | abnormal skeletal muscle fiber type ratio | deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
Mapped by homologous gene(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0011902 | Abnormal hemoglobin | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001935 | Microcytic anemia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0011907 | Reduced alpha/beta synthesis ratio | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0001789 | Hydrops fetalis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001971 | Hypersplenism | MP:0011491 | ureteropelvic junction obstruction | a partial or total blockage of the flow of urine through the junction of the renal pelvis and the proximal ureter |
| HP:0004840 | Hypochromic microcytic anemia | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002863 | Myelodysplasia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001081 | Cholelithiasis | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| Disease ID | 71 |
|---|---|
| Disease | alpha-thalassemia |
| Case | (Waiting for update.) |