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This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
[中文简述(自动翻译):]  这个基因编码的高亲和性谷氨酸转运蛋白家族的一个成员的一个成员。在中枢神经系统的兴奋性神经递质终止该基因的功能。突变与发作性共济失调,类型6.选择性剪接结果在多个抄本变形有关。[由RefSeq的,2014年2月提供]
SLC1A3基因(以及对应的蛋白质)的细胞分布位置:
SLC1A3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
EPISODIC ATAXIA, TYPE 6 (disorder) | 0.480271442 | 2 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Autistic Disorder | 0.122367032 | 2 | 0 | CTD_human_GAD |
Alternating hemiplegia of childhood | 0.120814326 | 3 | 0 | BeFree_ORPHANET |
Epilepsy | 0.120271442 | 2 | 0 | BeFree_CTD_human |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) | 0.08 | 0 | 0 | MGD |
Schizophrenia | 0.008815624 | 6 | 2 | BeFree_GAD_LHGDN |
Seizures | 0.005991584 | 2 | 0 | BeFree_LHGDN |
Hemiplegia | 0.0054487 | 2 | 0 | LHGDN |
Dementia | 0.0054487 | 2 | 0 | LHGDN |
Attention deficit hyperactivity disorder | 0.005276948 | 3 | 0 | BeFree_GAD |
Multiple Sclerosis | 0.00272435 | 1 | 0 | LHGDN |
Gilles de la Tourette syndrome | 0.002638474 | 2 | 0 | BeFree_GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Unipolar Depression | 0.000814326 | 3 | 0 | BeFree |
Hemiplegia, Crossed | 0.000814326 | 3 | 0 | BeFree |
Major Depressive Disorder | 0.000814326 | 3 | 0 | BeFree |
HIV Infections | 0.000542884 | 2 | 0 | BeFree |
Episodic Ataxia | 0.000542884 | 2 | 1 | BeFree |
Anxiety Disorders | 0.000271442 | 1 | 0 | BeFree |
Ataxia | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Glaucoma | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Synovial Cyst | 0.000271442 | 1 | 0 | BeFree |
Migraine Disorders | 0.000271442 | 1 | 0 | BeFree |
Prion Diseases | 0.000271442 | 1 | 0 | BeFree |
Fatal Familial Insomnia | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 2 | BeFree |
Frontotemporal Lobar Degeneration | 0.000271442 | 1 | 0 | BeFree |
Spinocerebellar Ataxia Type 1 | 0.000271442 | 1 | 0 | BeFree |
Spinocerebellar Ataxia Type 7 | 0.000271442 | 1 | 0 | BeFree |
Myxoid cyst | 0.000271442 | 1 | 0 | BeFree |
Childhood Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal Cancer | 0.000271442 | 1 | 0 | BeFree |
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