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This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码催化腺苷的水解为肌苷的酶。各种突变已经描述了该基因,并已与人类疾病。缺乏这种酶会引起严重的联合免疫缺陷病(SCID)的一种形式,在其中有两个B的功能障碍和与受损的细胞免疫的T淋巴细胞和生产免疫球蛋白的减少,而这种酶的水平升高已经先天性溶血性贫血相关联。 [由RefSeq的,2008年7月提供]
ADA基因(以及对应的蛋白质)的细胞分布位置:
ADA基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
SCID Due to ADA Deficiency, Early-Onset | 0.323800186 | 23 | 36 | BeFree_CLINVAR_MGD_UNIPROT |
Severe combined immunodeficiency due to adenosine deaminase deficiency | 0.246514605 | 24 | 3 | BeFree_CTD_human_ORPHANET |
Severe Combined Immunodeficiency | 0.151954196 | 109 | 4 | BeFree_CLINVAR_GAD |
Autistic Disorder | 0.128544182 | 4 | 1 | BeFree_CTD_human_GAD_LHGDN |
Hyperemia | 0.122367032 | 3 | 0 | CTD_human_GAD |
Partial adenosine deaminase deficiency | 0.121900093 | 7 | 8 | BeFree_CLINVAR |
Lung Neoplasms | 0.12 | 1 | 0 | CTD_human |
Spinal Cord Diseases | 0.12 | 1 | 0 | CTD_human |
SCID Due to ADA Deficiency, Delayed Onset | 0.12 | 0 | 2 | CLINVAR |
Omenn Syndrome | 0.12 | 0 | 0 | ORPHANET |
Hypertensive disease | 0.082367032 | 2 | 0 | GAD_RGD |
Lung diseases | 0.080271442 | 2 | 0 | BeFree_RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Hyperglycemia | 0.08 | 1 | 0 | RGD |
Leptospirosis | 0.08 | 1 | 0 | RGD |
Myocardial Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Peritonitis | 0.08 | 1 | 0 | RGD |
Pulmonary Edema | 0.08 | 1 | 0 | RGD |
Trypanosomiasis | 0.08 | 1 | 0 | RGD |
Drug-Induced Liver Injury | 0.08 | 1 | 0 | RGD |
Priapism, familial idiopathic | 0.08 | 0 | 0 | MGD |
Asthma | 0.010639772 | 5 | 0 | BeFree_GAD_LHGDN |
Diabetes Mellitus, Insulin-Dependent | 0.009272631 | 9 | 0 | BeFree_GAD |
Coronary Artery Disease | 0.008630058 | 4 | 0 | BeFree_GAD_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.006905599 | 9 | 0 | BeFree_GAD |
Adenosine deaminase deficiency | 0.006786047 | 25 | 3 | BeFree |
Malaria | 0.005005506 | 3 | 0 | BeFree_GAD |
Lymphopenia | 0.004538567 | 9 | 0 | BeFree_GAD |
HIV Infections | 0.003800186 | 14 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Peritonitis, Tuberculous | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Diabetes Mellitus | 0.003257302 | 12 | 0 | BeFree |
Coronary Arteriosclerosis | 0.003181358 | 3 | 0 | BeFree_GAD |
Diabetes | 0.002985861 | 11 | 0 | BeFree |
Rheumatoid Arthritis | 0.002909916 | 2 | 0 | BeFree_GAD |
Anoxia | 0.00272435 | 1 | 0 | LHGDN |
Hemorrhage | 0.00272435 | 1 | 0 | LHGDN |
Hydatidiform Mole | 0.00272435 | 1 | 0 | LHGDN |
Inflammation | 0.00272435 | 1 | 0 | LHGDN |
Kidney Failure, Chronic | 0.00272435 | 1 | 0 | LHGDN |
Nephrotic Syndrome | 0.00272435 | 1 | 0 | LHGDN |
Peptic Ulcer | 0.00272435 | 1 | 0 | LHGDN |
Pre-Eclampsia | 0.00272435 | 1 | 0 | LHGDN |
Pleural Effusion, Malignant | 0.00272435 | 1 | 0 | LHGDN |
Intellectual Disability | 0.00272435 | 1 | 0 | LHGDN |
Immunologic Deficiency Syndromes | 0.002714419 | 10 | 1 | BeFree |
Crohn Disease | 0.002638474 | 1 | 0 | BeFree_GAD |
Metabolic Syndrome X | 0.002638474 | 2 | 0 | BeFree_GAD |
Colonic Neoplasms | 0.002367032 | 1 | 0 | GAD |
Fatigue | 0.002367032 | 1 | 0 | GAD |
Hepatitis C | 0.002367032 | 1 | 0 | GAD |
Sleep Initiation and Maintenance Disorders | 0.002367032 | 1 | 0 | GAD |
Mental Retardation | 0.002367032 | 1 | 0 | GAD |
Idiopathic generalized epilepsy | 0.002367032 | 1 | 0 | GAD |
Hepatitis C, Chronic | 0.002367032 | 1 | 0 | GAD |
Sleep Disorders | 0.002367032 | 1 | 0 | GAD |
Hyperbilirubinemia, Neonatal | 0.002367032 | 1 | 0 | GAD |
Colorectal Cancer | 0.002367032 | 1 | 0 | GAD |
Symmetrical dyschromatosis of extremities | 0.001900093 | 7 | 0 | BeFree |
Anemia, Hemolytic | 0.001628651 | 6 | 0 | BeFree |
Anemia, Hemolytic, Congenital | 0.001628651 | 6 | 0 | BeFree |
X-Linked Combined Immunodeficiency Diseases | 0.001628651 | 6 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.001357209 | 5 | 0 | BeFree |
Chronic granulomatous disease | 0.001357209 | 5 | 0 | BeFree |
Immune System Diseases | 0.001357209 | 5 | 0 | BeFree |
Maturity onset diabetes mellitus in young | 0.001357209 | 5 | 0 | BeFree |
Anemia, Diamond-Blackfan | 0.001357209 | 5 | 0 | BeFree |
Pleural Tuberculosis | 0.001085767 | 4 | 0 | BeFree |
Combined immunodeficiency | 0.001085767 | 4 | 5 | BeFree |
Coronary heart disease | 0.000814326 | 3 | 0 | BeFree |
leukemia | 0.000814326 | 3 | 0 | BeFree |
Tuberculosis | 0.000814326 | 3 | 0 | BeFree |
Primary immune deficiency disorder | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Cardiovascular Diseases | 0.000542884 | 2 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000542884 | 2 | 0 | BeFree |
Reticulosarcoma | 0.000542884 | 2 | 0 | BeFree |
Measles | 0.000542884 | 2 | 0 | BeFree |
Polyarteritis Nodosa | 0.000542884 | 2 | 0 | BeFree |
Tuberculosis, Meningeal | 0.000542884 | 2 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Dyslipidemias | 0.000542884 | 2 | 0 | BeFree |
Impaired glucose tolerance | 0.000542884 | 2 | 0 | BeFree |
Histiocytic sarcoma | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Recurrent infections (sinusitis and bacterial pneumonia and meningitis) | 0.000542884 | 2 | 0 | BeFree |
Acquired Immunodeficiency Syndrome | 0.000271442 | 1 | 0 | BeFree |
Anemia, Sickle Cell | 0.000271442 | 1 | 0 | BeFree |
Bronchopulmonary Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Chordoma | 0.000271442 | 1 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 1 | BeFree |
Hypothyroidism | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Ketosis | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Hairy Cell Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Lymphocytosis | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Mucocutaneous Lymph Node Syndrome | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Pancytopenia | 0.000271442 | 1 | 0 | BeFree |
Peyronie Disease | 0.000271442 | 1 | 0 | BeFree |
Pneumonia | 0.000271442 | 1 | 0 | BeFree |
Strabismus | 0.000271442 | 1 | 0 | BeFree |
Takayasu Arteritis | 0.000271442 | 1 | 0 | BeFree |
Trichomonas Infections | 0.000271442 | 1 | 0 | BeFree |
Vasculitis | 0.000271442 | 1 | 0 | BeFree |
Wheezing | 0.000271442 | 1 | 0 | BeFree |
Xeroderma Pigmentosum | 0.000271442 | 1 | 0 | BeFree |
T-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Essential Hypertension | 0.000271442 | 1 | 0 | BeFree |
Macrocytosis | 0.000271442 | 1 | 0 | BeFree |
Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
Allergic asthma | 0.000271442 | 1 | 0 | BeFree |
HIV Encephalopathy | 0.000271442 | 1 | 0 | BeFree |
Chronic heart failure | 0.000271442 | 1 | 0 | BeFree |
Chromosome 20, trisomy | 0.000271442 | 1 | 0 | BeFree |
Vesicular Stomatitis | 0.000271442 | 1 | 0 | BeFree |
Disorder of purine metabolism | 0.000271442 | 1 | 0 | BeFree |
Combined molybdoflavoprotein enzyme deficiency | 0.000271442 | 1 | 0 | BeFree |
Secondary acquired sideroblastic anemia | 0.000271442 | 1 | 0 | BeFree |
Reticular dysgenesis | 0.000271442 | 1 | 0 | BeFree |
Tuberculosis of intestines | 0.000271442 | 1 | 0 | BeFree |
HIV encephalitis | 0.000271442 | 1 | 0 | BeFree |
Acute Undifferentiated Leukemia | 0.000271442 | 1 | 0 | BeFree |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Chromosome 8, trisomy | 0.000271442 | 1 | 0 | BeFree |
pricking of skin | 0.000271442 | 1 | 0 | BeFree |
Dementia | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Chronic lung disease | 0.000271442 | 1 | 0 | BeFree |
Malignant Pleural Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Post MI | 0.000271442 | 1 | 0 | BeFree |
Congenital hypoplastic anemia | 0.000271442 | 1 | 0 | BeFree |
Severe Acute Respiratory Syndrome | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated leukemia | 0.000271442 | 1 | 0 | BeFree |
Histiocytic medullary reticulosis (disorder) | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Combined immunodeficiency disease | 0.000271442 | 1 | 0 | BeFree |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C | 0.000271442 | 1 | 0 | BeFree |
Middle East Respiratory Syndrome | 0.000271442 | 1 | 0 | BeFree |
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