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This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码属于转录因子GATA家族的转录因子的蛋白质。蛋白质起着由胎儿血红蛋白的开关调节到成人血红蛋白中红细胞发展中起重要作用。在这种基因突变与X连锁红细胞生成异常性贫血和血小板减少症有关。 [由RefSeq的,2008年7月提供]
GATA1基因(以及对应的蛋白质)的细胞分布位置:
GATA1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis | 0.48 | 1 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA | 0.36 | 4 | 0 | CTD_human_ORPHANET_UNIPROT |
Down Syndrome | 0.17486456 | 84 | 0 | BeFree_CTD_human_GAD_LHGDN |
Acute Megakaryocytic Leukemias | 0.154271197 | 56 | 1 | BeFree_CLINVAR_LHGDN |
MYELOPROLIFERATIVE SYNDROME, TRANSIENT | 0.133496149 | 42 | 0 | BeFree_GAD_ORPHANET |
Thrombocytopenia | 0.128173051 | 4 | 0 | CTD_human_LHGDN |
Anemia, Diamond-Blackfan | 0.121900093 | 7 | 0 | BeFree_ORPHANET |
Porphyria, Erythropoietic | 0.121085767 | 4 | 1 | BeFree_ORPHANET |
Dyserythropoietic Anemia with Thrombocytopenia | 0.120814326 | 3 | 10 | BeFree_CLINVAR |
Acute Basophilic Leukemia | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Transient Myeloproliferative Disorder of Down Syndrome | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Leukemia, Megakaryoblastic, of Down Syndrome | 0.12 | 0 | 1 | CLINVAR |
Anemia, X-Linked, without Thrombocytopenia | 0.12 | 0 | 0 | CLINVAR |
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES | 0.12 | 0 | 0 | ORPHANET |
THROMBOCYTOPENIA 1 (disorder) | 0.081628651 | 6 | 0 | BeFree_MGD |
Myelofibrosis | 0.080814326 | 3 | 0 | BeFree_MGD |
Myeloproliferative disease | 0.011983168 | 8 | 0 | BeFree_LHGDN |
leukemia | 0.009781839 | 26 | 0 | BeFree_LHGDN |
Leukemia, Myelocytic, Acute | 0.00842463 | 22 | 0 | BeFree_LHGDN |
Myeloid Leukemia | 0.007077352 | 8 | 0 | BeFree_LHGDN |
Thalassemia | 0.005720142 | 2 | 0 | BeFree_LHGDN |
Temporomandibular Joint Dysfunction Syndrome | 0.005700279 | 21 | 0 | BeFree |
TIBIAL MUSCULAR DYSTROPHY, TARDIVE | 0.005700279 | 21 | 0 | BeFree |
Leukemogenesis | 0.004885954 | 18 | 1 | BeFree |
Primary Myelofibrosis | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Congenital dyserythropoietic anemia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Blast Phase | 0.002995792 | 2 | 0 | BeFree_LHGDN |
MYELODYSPLASTIC SYNDROME | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
Lymphoproliferative Disorders | 0.002367032 | 1 | 0 | GAD |
Pancreatic Neoplasm | 0.002367032 | 1 | 0 | GAD |
Acute Erythroblastic Leukemia | 0.002171535 | 8 | 0 | BeFree |
Acute leukemia | 0.002171535 | 8 | 0 | BeFree |
Anemia | 0.001900093 | 7 | 1 | BeFree |
Preleukemia | 0.001085767 | 4 | 0 | BeFree |
Hematological Disease | 0.000814326 | 3 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000814326 | 3 | 0 | BeFree |
Nephroblastoma | 0.000814326 | 3 | 0 | BeFree |
Neoplasm, Residual | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Chronic myeloproliferative disorder | 0.000814326 | 3 | 0 | BeFree |
Asthma | 0.000542884 | 2 | 0 | BeFree |
beta Thalassemia | 0.000542884 | 2 | 4 | BeFree |
Blood Platelet Disorders | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000542884 | 2 | 0 | BeFree |
Polycythemia Vera | 0.000542884 | 2 | 0 | BeFree |
Thrombocythemia, Essential | 0.000542884 | 2 | 0 | BeFree |
Trisomy | 0.000542884 | 2 | 0 | BeFree |
childhood acute megakaryocytic leukemia (M7) | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Leukemia in children | 0.000542884 | 2 | 0 | BeFree |
Cooley's anemia | 0.000271442 | 1 | 0 | BeFree |
Blood Coagulation Disorders | 0.000271442 | 1 | 1 | BeFree |
Eosinophilia | 0.000271442 | 1 | 0 | BeFree |
Hemoglobin F Disease | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Plague | 0.000271442 | 1 | 0 | BeFree |
Disorders of Porphyrin Metabolism | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Protein Deficiency | 0.000271442 | 1 | 0 | BeFree |
pediatric acute myeloblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Neonatal leukaemia | 0.000271442 | 1 | 0 | BeFree |
Iron deficiency | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Acute Undifferentiated Leukemia | 0.000271442 | 1 | 0 | BeFree |
Anemia due to decreased red cell production | 0.000271442 | 1 | 0 | BeFree |
Beta thalassemia intermedia | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
Dyserythropoietic anemia | 0.000271442 | 1 | 4 | BeFree |
Partial Trisomy | 0.000271442 | 1 | 0 | BeFree |
Eosinophilic disorder | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated leukemia | 0.000271442 | 1 | 0 | BeFree |
Disorder characterized by eosinophilia | 0.000271442 | 1 | 0 | BeFree |
MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Hyperdiploid B Acute Lymphoblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Myeloid neoplasm | 0.000271442 | 1 | 0 | BeFree |
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