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This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
[中文简述(自动翻译):]  该基因编码在哺乳动物血脑屏障的主要葡萄糖转运。所编码的蛋白质主要是在细胞膜和细胞表面,在那里它也可以用作人类T细胞白血病病毒(HTLV)的受体上I和II中。在这个基因的突变是在与阵发性劳累引起的运动障碍家族被发现。 [由RefSeq的,2013年4月提供]
SLC2A1基因(以及对应的蛋白质)的细胞分布位置:
SLC2A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Glut1 Deficiency Syndrome | 0.487328931 | 33 | 19 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
DYSTONIA 18 (disorder) | 0.480814326 | 13 | 7 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
CHOREOATHETOSIS/SPASTICITY, EPISODIC | 0.36 | 2 | 2 | CLINVAR_ORPHANET_UNIPROT |
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly | 0.24 | 0 | 1 | CLINVAR_ORPHANET |
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 | 0.24 | 2 | 10 | CLINVAR_UNIPROT |
Diabetes Mellitus, Non-Insulin-Dependent | 0.163105852 | 34 | 1 | BeFree_CTD_human_GAD |
Liver carcinoma | 0.124624443 | 9 | 0 | BeFree_CTD_human_LHGDN |
Mammary Neoplasms | 0.12408156 | 7 | 0 | BeFree_CTD_human_LHGDN |
Seizures | 0.124071628 | 18 | 0 | BeFree_CTD_human |
ovarian neoplasm | 0.123267234 | 3 | 0 | BeFree_CTD_human_LHGDN |
Renal Cell Carcinoma | 0.121357209 | 6 | 0 | BeFree_CTD_human |
Ataxia | 0.121085767 | 5 | 0 | BeFree_CTD_human |
Microcephaly | 0.121085767 | 6 | 0 | BeFree_CTD_human |
Noninfiltrating Intraductal Carcinoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
nervous system disorder | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Intellectual Disability | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
Developmental Disabilities | 0.12 | 3 | 0 | CTD_human |
Colonic Neoplasms | 0.12 | 1 | 0 | CTD_human |
Inborn Errors of Metabolism | 0.12 | 1 | 0 | CTD_human |
Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human |
Ductal Carcinoma | 0.12 | 1 | 0 | CTD_human |
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE | 0.12 | 0 | 3 | CLINVAR |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Fetal Growth Retardation | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Diabetic Nephropathy | 0.025337359 | 18 | 0 | BeFree_GAD_LHGDN |
Anoxia | 0.019070452 | 7 | 0 | LHGDN |
Colorectal Neoplasms | 0.008715934 | 5 | 0 | BeFree_LHGDN |
Kidney Diseases | 0.008458305 | 7 | 0 | BeFree_GAD |
Squamous cell carcinoma | 0.008163119 | 12 | 0 | BeFree_LHGDN |
Dyskinetic syndrome | 0.008077243 | 12 | 0 | BeFree_GAD_LHGDN |
Neoplasm Metastasis | 0.007891677 | 10 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.007795869 | 20 | 0 | BeFree_GAD |
Malignant neoplasm of lung | 0.006905599 | 10 | 0 | BeFree_GAD |
Diabetes Mellitus, Insulin-Dependent | 0.006720033 | 7 | 0 | BeFree_GAD_LHGDN |
Epilepsy | 0.006710102 | 17 | 0 | BeFree_GAD |
Obesity | 0.006634157 | 9 | 0 | BeFree_GAD |
Carcinoma, Papillary | 0.005991584 | 3 | 0 | BeFree_LHGDN |
Breast Carcinoma | 0.005700279 | 21 | 0 | BeFree |
Spina Bifida | 0.005091382 | 1 | 0 | GAD_LHGDN |
Adenocarcinoma | 0.004895885 | 9 | 0 | BeFree_LHGDN |
Brain Neoplasms | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Glioma | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Adenoma | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Hyperglycemia | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Hypoglycemia | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Hemangioma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Lung Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
melanoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Anemia, Hemolytic | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Mesothelioma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Melanocytic nevus | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Psoriasis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Diabetic Retinopathy | 0.002909916 | 3 | 1 | BeFree_GAD |
Bladder Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Dendritic Cell Sarcoma, Follicular | 0.00272435 | 1 | 0 | LHGDN |
Brain Hypoxia | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Absence Epilepsy | 0.002714419 | 10 | 0 | BeFree |
Alzheimer's Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Atherosclerosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.002638474 | 2 | 0 | BeFree_GAD |
Carcinogenesis | 0.002442977 | 9 | 0 | BeFree |
Calcinosis | 0.002367032 | 1 | 0 | GAD |
Carbohydrate Metabolism, Inborn Errors | 0.002367032 | 1 | 0 | GAD |
Cardiomegaly | 0.002367032 | 1 | 1 | GAD |
Hyperparathyroidism, Secondary | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Mental Retardation | 0.002367032 | 1 | 0 | GAD |
Uremia | 0.002367032 | 1 | 0 | GAD |
Vascular Diseases | 0.002367032 | 1 | 0 | GAD |
Complications of Diabetes Mellitus | 0.002367032 | 1 | 0 | GAD |
Glucose Metabolism Disorders | 0.002367032 | 1 | 0 | GAD |
Colorectal Carcinoma | 0.002171535 | 8 | 0 | BeFree |
Diabetes Mellitus | 0.002171535 | 8 | 0 | BeFree |
Dystonia | 0.001900093 | 7 | 0 | BeFree |
Movement Disorders | 0.001900093 | 7 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.001900093 | 7 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Thyroid carcinoma | 0.001628651 | 6 | 1 | BeFree |
Carcinoma of lung | 0.001628651 | 6 | 0 | BeFree |
Colon Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Colorectal Cancer | 0.001628651 | 6 | 0 | BeFree |
Malignant neoplasm of thyroid | 0.001357209 | 5 | 1 | BeFree |
Diabetes | 0.001357209 | 5 | 0 | BeFree |
Pancreatic carcinoma | 0.001357209 | 5 | 0 | BeFree |
Cervix carcinoma | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.001357209 | 5 | 0 | BeFree |
Dystonia Disorders | 0.001357209 | 5 | 0 | BeFree |
Malignant tumor of colon | 0.001085767 | 4 | 0 | BeFree |
Glioblastoma | 0.001085767 | 4 | 0 | BeFree |
Thyroid Neoplasm | 0.001085767 | 4 | 0 | BeFree |
Gestational Diabetes | 0.001085767 | 4 | 0 | BeFree |
Alternating hemiplegia of childhood | 0.001085767 | 4 | 0 | BeFree |
Carcinoma of larynx | 0.001085767 | 4 | 0 | BeFree |
Astrocytoma | 0.000814326 | 3 | 0 | BeFree |
Malignant tumor of cervix | 0.000814326 | 3 | 0 | BeFree |
Epilepsy, Generalized | 0.000814326 | 3 | 0 | BeFree |
Nodular glomerulosclerosis | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of stomach | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma | 0.000814326 | 3 | 0 | BeFree |
Encephalopathies | 0.000814326 | 3 | 0 | BeFree |
Follicular thyroid carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000814326 | 3 | 0 | BeFree |
Endometrial Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Epileptic encephalopathy | 0.000814326 | 3 | 0 | BeFree |
Osteosarcoma of bone | 0.000814326 | 3 | 0 | BeFree |
Prostate carcinoma | 0.000814326 | 3 | 0 | BeFree |
Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Carcinoma in situ of uterine cervix | 0.000814326 | 3 | 0 | BeFree |
Brain Diseases, Metabolic | 0.000542884 | 2 | 0 | BeFree |
Epilepsies, Partial | 0.000542884 | 2 | 0 | BeFree |
Heart failure | 0.000542884 | 2 | 0 | BeFree |
Congestive heart failure | 0.000542884 | 2 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Meningomyelocele | 0.000542884 | 2 | 0 | BeFree |
Ovarian Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Retinal Diseases | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000542884 | 2 | 0 | BeFree |
Hypertrophy of kidney | 0.000542884 | 2 | 0 | BeFree |
Glomerulosclerosis (disorder) | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Strawberry nevus of skin | 0.000542884 | 2 | 0 | BeFree |
Hemangioblastoma | 0.000542884 | 2 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Epithelial hyperplasia of skin | 0.000542884 | 2 | 0 | BeFree |
Developmental delay (disorder) | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma Multiforme | 0.000542884 | 2 | 0 | BeFree |
Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
Paroxysmal nonkinesigenic dyskinesia | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Anemia | 0.000271442 | 1 | 0 | BeFree |
Female Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of larynx | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Ehrlich Tumor | 0.000271442 | 1 | 0 | BeFree |
Chest Pain | 0.000271442 | 1 | 0 | BeFree |
Chondrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Chorea | 0.000271442 | 1 | 0 | BeFree |
Eclampsia | 0.000271442 | 1 | 0 | BeFree |
Epilepsy, Temporal Lobe | 0.000271442 | 1 | 0 | BeFree |
Breast Fibrocystic Disease | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Ganglioneuroma | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Hypertensive disease | 0.000271442 | 1 | 0 | BeFree |
Actinic keratosis | 0.000271442 | 1 | 0 | BeFree |
Seborrheic keratosis | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Muscle Spasticity | 0.000271442 | 1 | 0 | BeFree |
Myeloproliferative disease | 0.000271442 | 1 | 0 | BeFree |
Neck Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Ovarian Diseases | 0.000271442 | 1 | 0 | BeFree |
Pregnancy in Diabetics | 0.000271442 | 1 | 0 | BeFree |
Protein Deficiency | 0.000271442 | 1 | 0 | BeFree |
Spasm | 0.000271442 | 1 | 0 | BeFree |
Paraparesis, Spastic | 0.000271442 | 1 | 0 | BeFree |
Tremor | 0.000271442 | 1 | 0 | BeFree |
Tuberous Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Werner Syndrome | 0.000271442 | 1 | 0 | BeFree |
Pleural Effusion, Malignant | 0.000271442 | 1 | 0 | BeFree |
Epilepsy, Complex Partial | 0.000271442 | 1 | 0 | BeFree |
Synovial Cyst | 0.000271442 | 1 | 0 | BeFree |
Atrophic condition of skin | 0.000271442 | 1 | 0 | BeFree |
Malnutrition | 0.000271442 | 1 | 0 | BeFree |
Liver Failure, Acute | 0.000271442 | 1 | 0 | BeFree |
Smooth Muscle Tumor | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Endometrioid | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Large Cell | 0.000271442 | 1 | 0 | BeFree |
Ganglioneuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Familial benign neonatal epilepsy | 0.000271442 | 1 | 0 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of female breast | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of Male Breast | 0.000271442 | 1 | 0 | BeFree |
Islet Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of male breast | 0.000271442 | 1 | 0 | BeFree |
Renal glomerular disease | 0.000271442 | 1 | 0 | BeFree |
Hemiplegic migraine | 0.000271442 | 1 | 0 | BeFree |
Hyperplastic Polyp | 0.000271442 | 1 | 0 | BeFree |
Ceruminous adenoma | 0.000271442 | 1 | 0 | BeFree |
Anaplastic Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of colon | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Maturity onset diabetes mellitus in young | 0.000271442 | 1 | 0 | BeFree |
Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
Complex Endometrial Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Trichoepithelioma | 0.000271442 | 1 | 0 | BeFree |
Myoclonic Astatic Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Lymphatic Abnormalities | 0.000271442 | 1 | 0 | BeFree |
Non-alcoholic Fatty Liver Disease | 0.000271442 | 1 | 0 | BeFree |
Cortical Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Overweight | 0.000271442 | 1 | 0 | BeFree |
Oropharyngeal disorders | 0.000271442 | 1 | 0 | BeFree |
invasive cancer | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Chronic lung disease | 0.000271442 | 1 | 0 | BeFree |
early pregnancy | 0.000271442 | 1 | 0 | BeFree |
Seizures, Focal | 0.000271442 | 1 | 0 | BeFree |
Invasive breast carcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung, stage I | 0.000271442 | 1 | 0 | BeFree |
Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal cancer metastatic | 0.000271442 | 1 | 0 | BeFree |
Drug Resistant Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Myxoid cyst | 0.000271442 | 1 | 0 | BeFree |
Chromophobe Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Familial obesity | 0.000271442 | 1 | 0 | BeFree |
Adenoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Papillary Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
External Auditory Canal Ceruminous Adenoma | 0.000271442 | 1 | 0 | BeFree |
High Grade Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Intermediate Grade Ductal Breast Carcinoma In Situ | 0.000271442 | 1 | 0 | BeFree |
Invasive Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Differentiated Thyroid Gland Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathy, Familial Idiopathic | 0.000271442 | 1 | 0 | BeFree |
Human T-cell lymphotropic virus 1 infection | 0.000271442 | 1 | 0 | BeFree |
Cancer Cell Growth | 0.000271442 | 1 | 0 | BeFree |
Malignant Conversion | 0.000271442 | 1 | 0 | BeFree |
Skin Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Tumor Promotion | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Brain Edema | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma, Endometrioid | 0.000271442 | 1 | 0 | BeFree |
Dystonia 3, Torsion, X-Linked | 0.000271442 | 1 | 0 | BeFree |
COENZYME Q10 DEFICIENCY | 0.000271442 | 1 | 0 | BeFree |
Congenital vascular anomaly | 0.000271442 | 1 | 0 | BeFree |
Clear-cell metastatic renal cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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