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This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码认为控制脑发育过程中的细胞定位和神经细胞迁移至关重要的细胞 - 细胞相互作用的大分泌细胞外基质蛋白。此蛋白质可能参与精神分裂症,孤独症,双相型障碍,抑郁症和与颞叶性癫痫有关的迁移缺陷。这种基因的突变与小脑发育不全常染色体隐性遗传无脑回畸形有关。编码不同的两种亚型变种成绩单已经确定了这个基因。其他转录变体已被描述,但是它们的全长性质尚未确定。 [由RefSeq的,2008年7月提供]
RELN基因(以及对应的蛋白质)的细胞分布位置:
RELN基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Schizophrenia | 0.370493034 | 52 | 2 | BeFree_CTD_human_GAD_GWASCAT_LHGDN_MGD |
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE | 0.36 | 0 | 0 | CLINVAR_CTD_human_ORPHANET |
Autistic Disorder | 0.152157082 | 27 | 4 | BeFree_CTD_human_GAD_LHGDN |
Otosclerosis | 0.128729747 | 6 | 1 | BeFree_GAD_GWASCAT |
Alzheimer's Disease | 0.125905708 | 6 | 3 | BeFree_CTD_human_GAD_LHGDN |
Bipolar Disorder | 0.124267125 | 9 | 1 | BeFree_CTD_human_GAD |
Child Development Disorders, Pervasive | 0.12 | 1 | 0 | CTD_human |
Depressive disorder | 0.12 | 1 | 0 | CTD_human |
Major Depressive Disorder | 0.12 | 1 | 0 | CTD_human |
Hypothyroidism | 0.08 | 1 | 0 | RGD |
Liver Cirrhosis, Experimental | 0.08 | 1 | 0 | RGD |
Status Epilepticus | 0.08 | 1 | 0 | RGD |
Epilepsy, Temporal Lobe | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Dementia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Liver diseases | 0.00272435 | 1 | 0 | LHGDN |
Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
Pervasive Development Disorder | 0.002638474 | 1 | 0 | BeFree_GAD |
Multiple Sclerosis | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Neurofibrillary degeneration (morphologic abnormality) | 0.002367032 | 1 | 1 | GAD |
Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Lissencephaly | 0.001900093 | 7 | 0 | BeFree |
Cerebellar Hypoplasia | 0.001357209 | 5 | 0 | BeFree |
Mental disorders | 0.001085767 | 4 | 0 | BeFree |
Atrial Septal Defects | 0.001085767 | 4 | 0 | BeFree |
Seizures | 0.001085767 | 4 | 0 | BeFree |
Congenital Abnormality | 0.000814326 | 3 | 0 | BeFree |
Epilepsy | 0.000814326 | 3 | 0 | BeFree |
Psychotic Disorders | 0.000814326 | 3 | 0 | BeFree |
Nonorganic psychosis | 0.000814326 | 3 | 0 | BeFree |
Autism Spectrum Disorders | 0.000814326 | 3 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Ganglioglioma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Stomach Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Malformations of Cortical Development, Group II | 0.000542884 | 2 | 0 | BeFree |
Brain Diseases | 0.000271442 | 1 | 0 | BeFree |
Presenile dementia | 0.000271442 | 1 | 0 | BeFree |
Influenza | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Paranoid Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Stomach Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Right Ventricular Hypertrophy | 0.000271442 | 1 | 2 | BeFree |
Memory impairment | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of brain | 0.000271442 | 1 | 0 | BeFree |
Senile Plaques | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Epilepsy, Lateral Temporal | 0.000271442 | 1 | 0 | BeFree |
Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mild cognitive disorder | 0.000271442 | 1 | 3 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Neurodevelopmental Disorders | 0.000271442 | 1 | 0 | BeFree |
Myoclonic dystonia | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
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