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This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
[中文简述(自动翻译):]  该基因是果蝇‘异常主轴‘基因(ASP),它是在胚胎的成神经细胞的正常有丝分裂纺锤体功能所必需的人类直系同源物。在小鼠研究也表明该基因在有丝分裂纺锤体调控的作用,在调节神经优惠的角色。在这个基因的突变与原发性小头型5.多重转录变异体编码不同亚型也发现了这种基因有关。[由RefSeq的,2011年5月提供]
ASPM基因(以及对应的蛋白质)的细胞分布位置:
ASPM基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Microcephaly, Primary Autosomal Recessive, 5 | 0.44 | 1 | 121 | CLINVAR_CTD_human_MGD_UNIPROT |
Adenoid Cystic Carcinoma | 0.12 | 1 | 0 | CTD_human |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
Salivary Gland Neoplasms | 0.12 | 1 | 0 | CTD_human |
Microcephaly | 0.012625741 | 13 | 0 | BeFree_GAD_LHGDN |
Age related macular degeneration | 0.005005506 | 1 | 6 | BeFree_GAD |
Autosomal Recessive Primary Microcephaly | 0.00434307 | 16 | 0 | BeFree |
Glioblastoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Glioma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Liver carcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Primary microcephaly | 0.002714419 | 10 | 0 | BeFree |
Schizophrenia | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of breast | 0.002367032 | 1 | 0 | GAD |
Obesity | 0.001085767 | 4 | 0 | BeFree |
Amyotrophic Lateral Sclerosis | 0.000814326 | 3 | 1 | BeFree |
HIV Infections | 0.000814326 | 3 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000814326 | 3 | 0 | BeFree |
Juvenile rheumatoid arthritis | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Fibrodysplasia Ossificans Progressiva | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
Antisocial behavior | 0.000542884 | 2 | 0 | BeFree |
Congenital anomaly of brain | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Congenital microcephaly | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Cholelithiasis | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Mycoses | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
polyps | 0.000271442 | 1 | 0 | BeFree |
Angelman Syndrome | 0.000271442 | 1 | 0 | BeFree |
Chronic liver disease | 0.000271442 | 1 | 0 | BeFree |
Phobic anxiety disorder | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Diseases | 0.000271442 | 1 | 0 | BeFree |
Cholecystolithiasis | 0.000271442 | 1 | 0 | BeFree |
Attention deficit hyperactivity disorder | 0.000271442 | 1 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Pneumocystis jiroveci pneumonia | 0.000271442 | 1 | 0 | BeFree |
Non-Malignant Ascites Adverse Event | 0.000271442 | 1 | 0 | BeFree |
Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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