Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6507
Gene name	Solute carrier family 1 member 3
Gene symbol	SLC1A3
Synonyms (NCBI Gene)	EA6EAAT1GLASTGLAST1
Chromosome	5
Chromosome location	5p13.2
Summary	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 sp

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852619	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs137852620	T>A,G	Pathogenic	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs138085358	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant

219

Show/Hide all (219)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022261	hsa-miR-124-3p	Microarray	18668037
MIRT1354051	hsa-miR-1262	CLIP-seq
MIRT1354052	hsa-miR-130a	CLIP-seq
MIRT1354053	hsa-miR-130b	CLIP-seq
MIRT1354054	hsa-miR-19a	CLIP-seq
MIRT1354055	hsa-miR-19b	CLIP-seq
MIRT1354056	hsa-miR-301a	CLIP-seq
MIRT1354057	hsa-miR-301b	CLIP-seq
MIRT1354058	hsa-miR-3666	CLIP-seq
MIRT1354059	hsa-miR-4295	CLIP-seq
MIRT1354060	hsa-miR-454	CLIP-seq
MIRT1354061	hsa-miR-4693-3p	CLIP-seq
MIRT1354062	hsa-miR-4701-3p	CLIP-seq
MIRT1354063	hsa-miR-4731-5p	CLIP-seq
MIRT2329306	hsa-miR-1265	CLIP-seq
MIRT2329307	hsa-miR-2052	CLIP-seq
MIRT2329308	hsa-miR-3161	CLIP-seq
MIRT2329309	hsa-miR-4286	CLIP-seq
MIRT2329310	hsa-miR-4700-3p	CLIP-seq
MIRT2329311	hsa-miR-561	CLIP-seq
MIRT2329312	hsa-miR-587	CLIP-seq
MIRT2329313	hsa-miR-654-3p	CLIP-seq
MIRT2329314	hsa-miR-764	CLIP-seq
MIRT2623558	hsa-miR-1	CLIP-seq
MIRT2623559	hsa-miR-1254	CLIP-seq
MIRT2623560	hsa-miR-1273	CLIP-seq
MIRT2623561	hsa-miR-140-3p	CLIP-seq
MIRT2623562	hsa-miR-142-3p	CLIP-seq
MIRT2623563	hsa-miR-145	CLIP-seq
MIRT2623564	hsa-miR-1976	CLIP-seq
MIRT2623565	hsa-miR-203	CLIP-seq
MIRT2329307	hsa-miR-2052	CLIP-seq
MIRT2623566	hsa-miR-206	CLIP-seq
MIRT2623567	hsa-miR-217	CLIP-seq
MIRT2623568	hsa-miR-219-2-3p	CLIP-seq
MIRT2623569	hsa-miR-2964a-3p	CLIP-seq
MIRT2623570	hsa-miR-3116	CLIP-seq
MIRT2623571	hsa-miR-3121-3p	CLIP-seq
MIRT2623572	hsa-miR-3129-3p	CLIP-seq
MIRT2623573	hsa-miR-3130-3p	CLIP-seq
MIRT2623574	hsa-miR-3143	CLIP-seq
MIRT2623575	hsa-miR-3150a-5p	CLIP-seq
MIRT2623576	hsa-miR-3150b-5p	CLIP-seq
MIRT2623577	hsa-miR-3163	CLIP-seq
MIRT2623578	hsa-miR-3170	CLIP-seq
MIRT2623579	hsa-miR-3180-5p	CLIP-seq
MIRT2623580	hsa-miR-3187-3p	CLIP-seq
MIRT2623581	hsa-miR-361-5p	CLIP-seq
MIRT2623582	hsa-miR-3647-3p	CLIP-seq
MIRT2623583	hsa-miR-365	CLIP-seq
MIRT2623584	hsa-miR-3662	CLIP-seq
MIRT2623585	hsa-miR-3673	CLIP-seq
MIRT2623586	hsa-miR-3674	CLIP-seq
MIRT2623587	hsa-miR-3690	CLIP-seq
MIRT2623588	hsa-miR-370	CLIP-seq
MIRT2623589	hsa-miR-409-3p	CLIP-seq
MIRT2623590	hsa-miR-409-5p	CLIP-seq
MIRT2623591	hsa-miR-410	CLIP-seq
MIRT2623592	hsa-miR-4254	CLIP-seq
MIRT2623593	hsa-miR-4265	CLIP-seq
MIRT2623594	hsa-miR-4280	CLIP-seq
MIRT2623595	hsa-miR-4282	CLIP-seq
MIRT2623596	hsa-miR-4287	CLIP-seq
MIRT2623597	hsa-miR-4296	CLIP-seq
MIRT2623598	hsa-miR-4307	CLIP-seq
MIRT2623599	hsa-miR-4322	CLIP-seq
MIRT2623600	hsa-miR-4418	CLIP-seq
MIRT2623601	hsa-miR-4435	CLIP-seq
MIRT2623602	hsa-miR-4443	CLIP-seq
MIRT2623603	hsa-miR-4645-3p	CLIP-seq
MIRT2623604	hsa-miR-4648	CLIP-seq
MIRT2623605	hsa-miR-4654	CLIP-seq
MIRT2623606	hsa-miR-4668-3p	CLIP-seq
MIRT2623607	hsa-miR-4680-3p	CLIP-seq
MIRT2623608	hsa-miR-4685-3p	CLIP-seq
MIRT2623609	hsa-miR-4694-3p	CLIP-seq
MIRT2623610	hsa-miR-4701-5p	CLIP-seq
MIRT2623611	hsa-miR-4711-3p	CLIP-seq
MIRT2623612	hsa-miR-4722-3p	CLIP-seq
MIRT2623613	hsa-miR-4738-3p	CLIP-seq
MIRT2623614	hsa-miR-4749-3p	CLIP-seq
MIRT2623615	hsa-miR-4753-3p	CLIP-seq
MIRT2623616	hsa-miR-4757-5p	CLIP-seq
MIRT2623617	hsa-miR-4759	CLIP-seq
MIRT2623618	hsa-miR-4766-5p	CLIP-seq
MIRT2623619	hsa-miR-4768-5p	CLIP-seq
MIRT2623620	hsa-miR-4769-5p	CLIP-seq
MIRT2623621	hsa-miR-4778-5p	CLIP-seq
MIRT2623622	hsa-miR-4780	CLIP-seq
MIRT2623623	hsa-miR-4796-5p	CLIP-seq
MIRT2623624	hsa-miR-485-3p	CLIP-seq
MIRT2623625	hsa-miR-491-3p	CLIP-seq
MIRT2623626	hsa-miR-501-3p	CLIP-seq
MIRT2623627	hsa-miR-502-3p	CLIP-seq
MIRT2623628	hsa-miR-509-3-5p	CLIP-seq
MIRT2623629	hsa-miR-509-5p	CLIP-seq
MIRT2623630	hsa-miR-513a-3p	CLIP-seq
MIRT2623631	hsa-miR-522	CLIP-seq
MIRT2623632	hsa-miR-543	CLIP-seq
MIRT2623633	hsa-miR-548a-3p	CLIP-seq
MIRT2623634	hsa-miR-548c-3p	CLIP-seq
MIRT2623635	hsa-miR-548e	CLIP-seq
MIRT2623636	hsa-miR-548f	CLIP-seq
MIRT2623637	hsa-miR-548s	CLIP-seq
MIRT2623638	hsa-miR-581	CLIP-seq
MIRT2623639	hsa-miR-588	CLIP-seq
MIRT2623640	hsa-miR-607	CLIP-seq
MIRT2623641	hsa-miR-613	CLIP-seq
MIRT2623642	hsa-miR-615-5p	CLIP-seq
MIRT2623643	hsa-miR-623	CLIP-seq
MIRT2623644	hsa-miR-630	CLIP-seq
MIRT2623645	hsa-miR-661	CLIP-seq
MIRT2623646	hsa-miR-765	CLIP-seq
MIRT2623647	hsa-miR-767-5p	CLIP-seq
MIRT2623558	hsa-miR-1	CLIP-seq
MIRT2623559	hsa-miR-1254	CLIP-seq
MIRT2623560	hsa-miR-1273	CLIP-seq
MIRT2690918	hsa-miR-1321	CLIP-seq
MIRT2623561	hsa-miR-140-3p	CLIP-seq
MIRT2623562	hsa-miR-142-3p	CLIP-seq
MIRT2623563	hsa-miR-145	CLIP-seq
MIRT2623564	hsa-miR-1976	CLIP-seq
MIRT2623565	hsa-miR-203	CLIP-seq
MIRT2329307	hsa-miR-2052	CLIP-seq
MIRT2623566	hsa-miR-206	CLIP-seq
MIRT2623567	hsa-miR-217	CLIP-seq
MIRT2623568	hsa-miR-219-2-3p	CLIP-seq
MIRT2690919	hsa-miR-2277-3p	CLIP-seq
MIRT2623569	hsa-miR-2964a-3p	CLIP-seq
MIRT2623570	hsa-miR-3116	CLIP-seq
MIRT2623571	hsa-miR-3121-3p	CLIP-seq
MIRT2623572	hsa-miR-3129-3p	CLIP-seq
MIRT2623573	hsa-miR-3130-3p	CLIP-seq
MIRT2623574	hsa-miR-3143	CLIP-seq
MIRT2623575	hsa-miR-3150a-5p	CLIP-seq
MIRT2623576	hsa-miR-3150b-5p	CLIP-seq
MIRT2690920	hsa-miR-3154	CLIP-seq
MIRT2690921	hsa-miR-3156-3p	CLIP-seq
MIRT2623577	hsa-miR-3163	CLIP-seq
MIRT2623578	hsa-miR-3170	CLIP-seq
MIRT2623579	hsa-miR-3180-5p	CLIP-seq
MIRT2623580	hsa-miR-3187-3p	CLIP-seq
MIRT2623581	hsa-miR-361-5p	CLIP-seq
MIRT2623582	hsa-miR-3647-3p	CLIP-seq
MIRT2623583	hsa-miR-365	CLIP-seq
MIRT2690922	hsa-miR-3660	CLIP-seq
MIRT2623585	hsa-miR-3673	CLIP-seq
MIRT2623586	hsa-miR-3674	CLIP-seq
MIRT2623587	hsa-miR-3690	CLIP-seq
MIRT2623588	hsa-miR-370	CLIP-seq
MIRT2690923	hsa-miR-371-5p	CLIP-seq
MIRT2623589	hsa-miR-409-3p	CLIP-seq
MIRT2623590	hsa-miR-409-5p	CLIP-seq
MIRT2623591	hsa-miR-410	CLIP-seq
MIRT2623592	hsa-miR-4254	CLIP-seq
MIRT2623593	hsa-miR-4265	CLIP-seq
MIRT2690924	hsa-miR-4267	CLIP-seq
MIRT2623594	hsa-miR-4280	CLIP-seq
MIRT2623595	hsa-miR-4282	CLIP-seq
MIRT2329309	hsa-miR-4286	CLIP-seq
MIRT2623596	hsa-miR-4287	CLIP-seq
MIRT2623597	hsa-miR-4296	CLIP-seq
MIRT2690925	hsa-miR-4301	CLIP-seq
MIRT2623599	hsa-miR-4322	CLIP-seq
MIRT2623600	hsa-miR-4418	CLIP-seq
MIRT2623601	hsa-miR-4435	CLIP-seq
MIRT2623602	hsa-miR-4443	CLIP-seq
MIRT2690926	hsa-miR-4526	CLIP-seq
MIRT2623603	hsa-miR-4645-3p	CLIP-seq
MIRT2623604	hsa-miR-4648	CLIP-seq
MIRT2623605	hsa-miR-4654	CLIP-seq
MIRT2623606	hsa-miR-4668-3p	CLIP-seq
MIRT2623607	hsa-miR-4680-3p	CLIP-seq
MIRT2623608	hsa-miR-4685-3p	CLIP-seq
MIRT2623609	hsa-miR-4694-3p	CLIP-seq
MIRT2623610	hsa-miR-4701-5p	CLIP-seq
MIRT2623611	hsa-miR-4711-3p	CLIP-seq
MIRT2623612	hsa-miR-4722-3p	CLIP-seq
MIRT2623613	hsa-miR-4738-3p	CLIP-seq
MIRT2690927	hsa-miR-4739	CLIP-seq
MIRT2623614	hsa-miR-4749-3p	CLIP-seq
MIRT2623615	hsa-miR-4753-3p	CLIP-seq
MIRT2690928	hsa-miR-4756-5p	CLIP-seq
MIRT2623616	hsa-miR-4757-5p	CLIP-seq
MIRT2623617	hsa-miR-4759	CLIP-seq
MIRT2623618	hsa-miR-4766-5p	CLIP-seq
MIRT2623619	hsa-miR-4768-5p	CLIP-seq
MIRT2623620	hsa-miR-4769-5p	CLIP-seq
MIRT2623621	hsa-miR-4778-5p	CLIP-seq
MIRT2623622	hsa-miR-4780	CLIP-seq
MIRT2623623	hsa-miR-4796-5p	CLIP-seq
MIRT2623624	hsa-miR-485-3p	CLIP-seq
MIRT2623625	hsa-miR-491-3p	CLIP-seq
MIRT2623626	hsa-miR-501-3p	CLIP-seq
MIRT2623627	hsa-miR-502-3p	CLIP-seq
MIRT2690929	hsa-miR-508-5p	CLIP-seq
MIRT2623628	hsa-miR-509-3-5p	CLIP-seq
MIRT2623629	hsa-miR-509-5p	CLIP-seq
MIRT2690930	hsa-miR-512-5p	CLIP-seq
MIRT2623630	hsa-miR-513a-3p	CLIP-seq
MIRT2623631	hsa-miR-522	CLIP-seq
MIRT2690931	hsa-miR-532-3p	CLIP-seq
MIRT2623632	hsa-miR-543	CLIP-seq
MIRT2623633	hsa-miR-548a-3p	CLIP-seq
MIRT2623634	hsa-miR-548c-3p	CLIP-seq
MIRT2623635	hsa-miR-548e	CLIP-seq
MIRT2623636	hsa-miR-548f	CLIP-seq
MIRT2623637	hsa-miR-548s	CLIP-seq
MIRT2329311	hsa-miR-561	CLIP-seq
MIRT2623638	hsa-miR-581	CLIP-seq
MIRT2623639	hsa-miR-588	CLIP-seq
MIRT2623641	hsa-miR-613	CLIP-seq
MIRT2623642	hsa-miR-615-5p	CLIP-seq
MIRT2623643	hsa-miR-623	CLIP-seq
MIRT2623644	hsa-miR-630	CLIP-seq
MIRT2623645	hsa-miR-661	CLIP-seq
MIRT2623646	hsa-miR-765	CLIP-seq
MIRT2690932	hsa-miR-766	CLIP-seq
MIRT2623647	hsa-miR-767-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
SP3	Unknown	14713304
USF1	Unknown	14713304

Show/Hide all (78)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001504	Process	Neurotransmitter uptake	TAS	8647279
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IDA	7521911
GO:0005313	Function	L-glutamate transmembrane transporter activity	IEA
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	IDA	26690923
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	IEA
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	IMP	8123008, 28032905
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	8123008, 26690923, 28032905
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006836	Process	Neurotransmitter transport	TAS
GO:0006865	Process	Amino acid transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7521911
GO:0007605	Process	Sensory perception of sound	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0009449	Process	Gamma-aminobutyric acid biosynthetic process	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009925	Component	Basal plasma membrane	ISS
GO:0009986	Component	Cell surface	IEA
GO:0015172	Function	Acidic amino acid transmembrane transporter activity	IEA
GO:0015175	Function	Neutral L-amino acid transmembrane transporter activity	IBA
GO:0015293	Function	Symporter activity	IEA
GO:0015501	Function	Glutamate:sodium symporter activity	IBA
GO:0015501	Function	Glutamate:sodium symporter activity	IDA	20477940
GO:0015501	Function	Glutamate:sodium symporter activity	IEA
GO:0015501	Function	Glutamate:sodium symporter activity	IMP	8123008
GO:0015804	Process	Neutral amino acid transport	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IDA	26690923
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7521911
GO:0016595	Function	Glutamate binding	IEA
GO:0016597	Function	Amino acid binding	IEA
GO:0021545	Process	Cranial nerve development	IEA
GO:0031223	Process	Auditory behavior	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0046677	Process	Response to antibiotic	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051938	Process	L-glutamate import	IDA	7521911
GO:0051938	Process	L-glutamate import	IEA
GO:0070633	Process	Transepithelial transport	ISS
GO:0070779	Process	D-aspartate import across plasma membrane	IBA
GO:0070779	Process	D-aspartate import across plasma membrane	IDA	7521911
GO:0070779	Process	D-aspartate import across plasma membrane	IEA
GO:0070779	Process	D-aspartate import across plasma membrane	IMP	8123008, 28032905
GO:0071314	Process	Cellular response to cocaine	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	20477940
GO:0071944	Component	Cell periphery	IEA
GO:0098657	Process	Import into cell	IEA
GO:0098712	Process	L-glutamate import across plasma membrane	IBA
GO:0098712	Process	L-glutamate import across plasma membrane	IDA	26690923
GO:0098712	Process	L-glutamate import across plasma membrane	IEA
GO:0098712	Process	L-glutamate import across plasma membrane	IMP	8123008, 28032905
GO:0098796	Component	Membrane protein complex	ISS
GO:0140009	Process	L-aspartate import across plasma membrane	IBA
GO:0140009	Process	L-aspartate import across plasma membrane	IDA	7521911, 20477940
GO:0140009	Process	L-aspartate import across plasma membrane	IMP	8123008
GO:0150104	Process	Transport across blood-brain barrier	ISS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1902476	Process	Chloride transmembrane transport	IDA	20477940

MIM	HGNC	e!Ensembl
600111	10941	ENSG00000079215

P43003

Protein name

Excitatory amino acid transporter 1 (Sodium-dependent glutamate/aspartate transporter 1) (GLAST-1) (Solute carrier family 1 member 3)

Protein function

Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:20477940, PubMed:26690923, PubMed:28032905, PubMed:28424515, PubMed:7521911, PubMed:8123008). Functions a

PDB

5LLM , 5LLU , 5LM4 , 5MJU , 7NPW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00375	SDF	50 → 497	Sodium:dicarboxylate symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in brain (PubMed:7521911, PubMed:8123008, PubMed:8218410). Detected at very much lower levels in heart, lung, placenta and skeletal muscle (PubMed:7521911, PubMed:8123008). Highly expressed in cerebellum, but also found in fro

Sequence

MTKSNGEEPKMGGRMERFQQGVRKRTLLAKKKVQNITKEDVKSYLFRNAFVLLTVTAVIV
GTILGFTLRPYRMSYREVKYFSFPGELLMRMLQMLVLPLIISSLVTGMAALDSKASGKMG
MRAVVYYMTTTIIAVVIGIIIVIIIHPGKGTKENMHREGKIVRVTAADAFLDLIRNMFPP
NLVEACFKQFKTNYEKRSFKVPIQANETLVGAVINNVSEAMETLTRITEELVPVPGSVNG
VNALGLVVFSMCFGFVIGNMKEQGQALREFFDSLNEAIMRLVAVIMWYAPVGILFLIAGK
IVEMEDMGVIGGQLAMYTVTVIVGLLIHAVIVLPLLYFLVTRKNPWVFIGGLLQALITAL
GTSSSSATLPITFKCLEENNGVDKRVTRFVLPVGATINMDGTALYEALAAIFIAQVNNFE
LNFGQIITISITATAASIGAAGIPQAGLVTMVIVLTSVGLPTDDITLIIAVDWFLDRLRT
TTNVLGDSLGAGIVEHLSRHELKNRDVEMGNSVIEENEMKKPYQLIAQDNETEKPIDSET
KM

Sequence length

542

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Glutamatergic synapse Huntington disease		Astrocytic Glutamate-Glutamine Uptake And Metabolism Glutamate Neurotransmitter Release Cycle Transport of inorganic cations/anions and amino acids/oligopeptides Defective SLC1A3 causes episodic ataxia 6 (EA6)

134

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Episodic ataxia type 6	Pathogenic	rs137852619, rs137852620	RCV000010048 RCV000010049

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hereditary episodic ataxia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs35302142, rs552989102, rs147871333, rs886060546, rs886060542, rs538321546, rs148448836, rs886060544	RCV000266884 RCV000387833 RCV000297194 RCV000262018 RCV000333348 RCV000343794 RCV000273569 RCV000349469
Multiple congenital anomalies/dysmorphic syndrome	Uncertain significance	rs745942837	RCV005626285
SLC1A3-related disorder	Benign; Likely benign; Uncertain significance	rs758716513, rs150357327, rs2477871926, rs143791614, rs117295512, rs201069745, rs753136358	RCV003918918 RCV004755841 RCV003392944 RCV004755895 RCV003950251 RCV003922558 RCV004756180
Spastic ataxia	Benign; Likely benign	rs115702388	RCV001643071

Show/Hide Text Mining Associations (35)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	11826152, 28812276, 36544231, 39694320
Alzheimer Disease	Inhibit	21743130
Ataxia	Associate	28812276
Attention Deficit Disorder with Hyperactivity	Associate	30953407, 34573389
Brain Injuries Traumatic	Associate	28812276
Carcinoma Renal Cell	Associate	37033923
COVID 19	Associate	37033923
Dementia	Associate	11826152
Depressive Disorder	Associate	32171272
Depressive Disorder Major	Inhibit	16230605
Depressive Disorder Major	Associate	20386568
Diffuse Neurofibrillary Tangles with Calcification	Associate	11826152
Epilepsy	Associate	17868051
Epilepsy Post Traumatic	Associate	29999457
Episodic Ataxia	Associate	29062094, 37002226
Episodic Ataxia Type 6	Associate	37002226
Essential Tremor	Associate	27624392
Fetal Growth Retardation	Associate	33004923
Fibrosis	Associate	37359552
Fragile X Tremor Ataxia Syndrome	Inhibit	24332449
Glaucoma	Associate	28812276
Glioblastoma	Associate	26047211
Hemiplegia	Associate	29066757
Hepatic Encephalopathy	Associate	33852451
Meniere Disease	Associate	23850643
Mental Disorders	Associate	32171272
Migraine Disorders	Associate	29066757
Migraine with Aura	Associate	29066757
Neurodegenerative Diseases	Associate	8647279
Neurologic Manifestations	Associate	28812276
Presbycusis	Associate	23850643
Prostatic Hyperplasia	Associate	37501430
Purpura Thrombocytopenic Idiopathic	Associate	27554456
Seizures	Associate	29999457
Severe Acute Respiratory Syndrome	Associate	29999457

SLC1A3 (solute carrier family 1 member 3)