SLC1A3 (solute carrier family 1 member 3)

Gene

• Entrez ID: 6507
• Gene name: Solute carrier family 1 member 3
• Gene symbol: SLC1A3
• Synonyms (NCBI Gene): EA6, EAAT1, GLAST, GLAST1
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
SP3	Unknown	14713304
USF1	Unknown	14713304

Gene ontology (GO)

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

Other IDs

• MIM: 600111
• HGNC: 10941
• e!Ensembl: ENSG00000079215

Protein

• UniProt ID: 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

Pathways

KEGG:

Synaptic vesicle cycle
Glutamatergic synapse
Huntington disease

Reactome:

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)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Episodic ataxia type 6	Pathogenic	rs137852619, rs137852620	RCV000010048 RCV000010049	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHEDONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPISODIC ATAXIA, TYPE 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary episodic ataxia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple congenital anomalies/dysmorphic syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC1A3-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5p13 microduplication syndrome	5p13 Duplication Syndrome	BEFREE	27296938		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	BEFREE	16116111, 17236110, 19139306		★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating Hemiplegia	Orphanet			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11826152, 28812276, 36544231, 39694320	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21743130	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29066369		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	11790392		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	PSYGENET_DG	19409534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	20153402		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20153402		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28812276	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30953407, 34573389	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	15950021, 18081024, 30953407		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	11706102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	27296938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	19853022		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11850151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	29790085, 30073554		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Injuries Traumatic	Brain injuries	Pubtator	28812276	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37033923	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20028558		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25981639		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	17236110		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	11826152, 15718040		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	11826152	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28819456		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32171272	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	16230605	Inhibit	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	20386568	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28779212		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28779212		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	17868051	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	19853022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	30022509, 8001975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	19853022		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	16116111, 19139306, 27829685, 29208948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic ataxia	Pubtator	29062094, 37002226	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic ataxia type 6	Episodic ataxia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic Ataxia Type 6	Episodic ataxia	Pubtator	37002226	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPISODIC ATAXIA, TYPE 6 (disorder)	Episodic Ataxia	UNIPROT_DG	16116111		★☆☆☆☆ Found in Text Mining only
EPISODIC ATAXIA, TYPE 6 (disorder)	Episodic Ataxia	GENOMICS_ENGLAND_DG	19139306, 27829685		★☆☆☆☆ Found in Text Mining only
EPISODIC ATAXIA, TYPE 6 (disorder)	Episodic Ataxia	ORPHANET_DG	19139306		★☆☆☆☆ Found in Text Mining only
EPISODIC ATAXIA, TYPE 6 (disorder)	Episodic Ataxia	BEFREE	23107647, 27829685		★☆☆☆☆ Found in Text Mining only
EPISODIC ATAXIA, TYPE 6 (disorder)	Episodic Ataxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
EPISODIC ATAXIA, TYPE 6 (disorder)	Episodic Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	27624392		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	27624392	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	30327343		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	30327343		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	30327343		★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	23727833		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	21233784, 30587990		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	25789968, 28812276		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28812276	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26047211	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30418668		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30418668		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30418668		★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	29066757	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia, Crossed	Hemiplegia	BEFREE	16116111, 17236110, 19139306		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	33852451	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11850151		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19156441		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	16687472		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24956246		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	8001975		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25326682		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	21528001		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	16230605, 23706640, 24652383		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30771902		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29941933, 31523835		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	23850643	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28819456		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	8001975		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	8001975		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	19139306, 29066757		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	29066757	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	29066757	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	28821644		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	16061389		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29941933, 31523835		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28812276		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	8647279	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	28507136		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	12083339		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15736433, 17627080		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	19139306		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	37501430	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11850151, 17221839, 19716271, 23356950, 24956246, 26057049, 26416546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17221839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19078949, 19716271, 23356950, 24956246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	29999457	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	12453601		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	25255716		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	16936724		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30771902		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30771902		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	16230605		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	17236110		★☆☆☆☆ Found in Text Mining only