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This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  该基因编码成熟的星形胶质细胞的主要中间丝蛋白中的一个。它被用作一个标记开发中区分来自其它神经胶质细胞的星形胶质细胞。突变该基因引起亚历山大病,星形胶质细胞在中枢神经系统中的罕见病症。在多个转录剪接变异体结果不同编码的亚型。 [由RefSeq的,2008年10月提供]
GFAP基因(以及对应的蛋白质)的细胞分布位置:
GFAP基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alexander Disease | 0.52654694 | 95 | 90 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_UNIPROT |
Gliosis | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Amyotrophic Lateral Sclerosis | 0.122171535 | 9 | 2 | BeFree_CTD_human |
nervous system disorder | 0.121357209 | 8 | 0 | BeFree_CTD_human |
Epilepsy | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Neuromyelitis Optica | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Parkinson Disease | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Lewy Body Disease | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Ceroid lipofuscinosis, neuronal 1, infantile | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Spina Bifida Cystica | 0.12 | 1 | 0 | CTD_human |
AMYOTROPHIC LATERAL SCLEROSIS 1 | 0.12 | 1 | 0 | CTD_human |
Brain Edema | 0.080271442 | 2 | 0 | BeFree_RGD |
Hyperalgesia | 0.08 | 1 | 0 | RGD |
Retinal Diseases | 0.08 | 1 | 0 | RGD |
Urination Disorders | 0.08 | 1 | 0 | RGD |
Glioma | 0.011943442 | 44 | 0 | BeFree |
Astrocytoma | 0.01141049 | 33 | 2 | BeFree_LHGDN |
Schizophrenia | 0.008987376 | 5 | 0 | BeFree_LHGDN |
Glioblastoma | 0.007881746 | 19 | 0 | BeFree_LHGDN |
Alzheimer's Disease | 0.004895885 | 9 | 0 | BeFree_LHGDN |
oligodendroglioma | 0.004895885 | 9 | 0 | BeFree_LHGDN |
Down Syndrome | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Neurilemmoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Bipolar Disorder | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Guillain-Barre Syndrome | 0.00272435 | 1 | 0 | LHGDN |
Subarachnoid Hemorrhage | 0.00272435 | 1 | 0 | LHGDN |
Neurocysticercosis | 0.00272435 | 1 | 0 | LHGDN |
Major Depressive Disorder | 0.00272435 | 1 | 0 | LHGDN |
Malignant Glioma | 0.002714419 | 10 | 0 | BeFree |
Neurodegenerative Disorders | 0.002442977 | 9 | 0 | BeFree |
Brain Neoplasms | 0.002171535 | 8 | 1 | BeFree |
Well Differentiated Oligodendroglioma | 0.002171535 | 8 | 0 | BeFree |
Medulloblastoma | 0.001900093 | 7 | 0 | BeFree |
Senile Plaques | 0.001628651 | 6 | 0 | BeFree |
Anaplastic Oligodendroglioma | 0.001628651 | 6 | 0 | BeFree |
HIV Infections | 0.001357209 | 5 | 0 | BeFree |
CNS disorder | 0.001085767 | 4 | 0 | BeFree |
Leukodystrophy | 0.001085767 | 4 | 0 | BeFree |
Multiple Sclerosis | 0.001085767 | 4 | 0 | BeFree |
Encephalopathies | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Fibrosarcoma | 0.000814326 | 3 | 0 | BeFree |
Herpes Simplex Infections | 0.000814326 | 3 | 0 | BeFree |
Creutzfeldt-Jakob disease | 0.000814326 | 3 | 0 | BeFree |
Mitral Valve Stenosis | 0.000814326 | 3 | 0 | BeFree |
Mixed Salivary Gland Tumor | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Neurofibromatosis 1 | 0.000814326 | 3 | 0 | BeFree |
Central Nervous System Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Neurofibrillary degeneration (morphologic abnormality) | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Drug Resistant Epilepsy | 0.000814326 | 3 | 0 | BeFree |
Ataxia | 0.000542884 | 2 | 0 | BeFree |
Cholera | 0.000542884 | 2 | 0 | BeFree |
Presenile dementia | 0.000542884 | 2 | 0 | BeFree |
Diabetes | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
Experimental Autoimmune Encephalomyelitis | 0.000542884 | 2 | 0 | BeFree |
Ischemia | 0.000542884 | 2 | 0 | BeFree |
Myopathy | 0.000542884 | 2 | 0 | BeFree |
Myoepithelioma | 0.000542884 | 2 | 0 | BeFree |
Seizures | 0.000542884 | 2 | 1 | BeFree |
Spinal Cord Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Progressive supranuclear palsy | 0.000542884 | 2 | 0 | BeFree |
Tremor | 0.000542884 | 2 | 0 | BeFree |
Motor Neuron Disease | 0.000542884 | 2 | 1 | BeFree |
Liver Failure, Acute | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Adrenocortical carcinoma | 0.000542884 | 2 | 0 | BeFree |
Parkinsonian Disorders | 0.000542884 | 2 | 0 | BeFree |
Proliferative vitreoretinopathy | 0.000542884 | 2 | 0 | BeFree |
Anaplastic astrocytoma | 0.000542884 | 2 | 0 | BeFree |
Epiretinal Membrane | 0.000542884 | 2 | 0 | BeFree |
Dementia | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Hippocampal sclerosis | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Plaque, Amyloid | 0.000542884 | 2 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Depression, Bipolar | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Dilated | 0.000271442 | 1 | 0 | BeFree |
Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
Brain Ischemia | 0.000271442 | 1 | 0 | BeFree |
Chondrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Corneal Diseases | 0.000271442 | 1 | 0 | BeFree |
Dental caries | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Ependymoma | 0.000271442 | 1 | 0 | BeFree |
Ganglioneuroma | 0.000271442 | 1 | 0 | BeFree |
Glaucoma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Leukoencephalopathy, Progressive Multifocal | 0.000271442 | 1 | 0 | BeFree |
Leukoplakia | 0.000271442 | 1 | 0 | BeFree |
Machado-Joseph Disease | 0.000271442 | 1 | 0 | BeFree |
Meningioma | 0.000271442 | 1 | 0 | BeFree |
Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
Neuronal Ceroid-Lipofuscinoses | 0.000271442 | 1 | 0 | BeFree |
Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Pituitary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Retinal Detachment | 0.000271442 | 1 | 0 | BeFree |
Rett Syndrome | 0.000271442 | 1 | 0 | BeFree |
Shy-Drager Syndrome | 0.000271442 | 1 | 0 | BeFree |
Dermatologic disorders | 0.000271442 | 1 | 0 | BeFree |
Spastic Paraplegia | 0.000271442 | 1 | 0 | BeFree |
Spinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Supratentorial Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Teratoma | 0.000271442 | 1 | 0 | BeFree |
Varicosity | 0.000271442 | 1 | 0 | BeFree |
von Willebrand Disease | 0.000271442 | 1 | 0 | BeFree |
Epidermolysis Bullosa Simplex | 0.000271442 | 1 | 0 | BeFree |
Toxoplasmosis, Cerebral | 0.000271442 | 1 | 0 | BeFree |
Synovial Cyst | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of brain | 0.000271442 | 1 | 0 | BeFree |
Proliferative diabetic retinopathy | 0.000271442 | 1 | 0 | BeFree |
Infections specific to perinatal period | 0.000271442 | 1 | 0 | BeFree |
Agenesis of corpus callosum | 0.000271442 | 1 | 0 | BeFree |
Sarcoma, Spindle Cell | 0.000271442 | 1 | 0 | BeFree |
Fatal Familial Insomnia | 0.000271442 | 1 | 0 | BeFree |
Ganglioglioma | 0.000271442 | 1 | 0 | BeFree |
gliosarcoma | 0.000271442 | 1 | 0 | BeFree |
Macrocephaly | 0.000271442 | 1 | 0 | BeFree |
Memory impairment | 0.000271442 | 1 | 0 | BeFree |
Multiple tumors | 0.000271442 | 1 | 0 | BeFree |
Familial Cerebral Amyloid Angiopathy | 0.000271442 | 1 | 0 | BeFree |
Leukoencephalopathies | 0.000271442 | 1 | 0 | BeFree |
Coinfection | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Mixed Oligodendroglioma-Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Microembolus | 0.000271442 | 1 | 0 | BeFree |
Caries (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Gemistocytic astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Fibrillary Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Pleomorphic Xanthoastrocytoma | 0.000271442 | 1 | 0 | BeFree |
Arrhythmogenic Right Ventricular Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Multiple System Atrophy | 0.000271442 | 1 | 0 | BeFree |
Carney Complex | 0.000271442 | 1 | 0 | BeFree |
Hemimegalencephaly | 0.000271442 | 1 | 0 | BeFree |
Alzheimer Disease, Late Onset | 0.000271442 | 1 | 0 | BeFree |
Mood Disorders | 0.000271442 | 1 | 0 | BeFree |
Mixed oligoastrocytoma | 0.000271442 | 1 | 0 | BeFree |
Cerebral Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Frontotemporal Lobar Degeneration | 0.000271442 | 1 | 0 | BeFree |
CADASIL Syndrome | 0.000271442 | 1 | 0 | BeFree |
Adult Acute Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Cerebral Ischemia | 0.000271442 | 1 | 0 | BeFree |
Myxoid cyst | 0.000271442 | 1 | 0 | BeFree |
Neoplasm of frontal lobe | 0.000271442 | 1 | 0 | BeFree |
Mild cognitive disorder | 0.000271442 | 1 | 0 | BeFree |
Tanycytic ependymoma | 0.000271442 | 1 | 0 | BeFree |
Nervous system--Degeneration | 0.000271442 | 1 | 0 | BeFree |
Cerebral Amyloid Angiopathy, Hereditary | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | 0.000271442 | 1 | 0 | BeFree |
GIANT AXONAL NEUROPATHY 1 | 0.000271442 | 1 | 0 | BeFree |
Creutzfeldt-Jakob Disease, Sporadic | 0.000271442 | 1 | 0 | BeFree |
Amyloid angiopathy | 0.000271442 | 1 | 0 | BeFree |
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