SLC1A1 (solute carrier family 1 member 1)

Gene

• Entrez ID: 6505
• Gene name: Solute carrier family 1 member 1
• Gene symbol: SLC1A1
• Synonyms (NCBI Gene): DCBXA, EAAC1, EAAT3, SCZD18, hEAAC1
• Chromosome: 9
• Chromosome location: 9p24.2
• Summary: This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter g

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018599	hsa-miR-335-5p	Microarray	18185580
MIRT054678	hsa-miR-96-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR	24304186
MIRT107790	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT649692	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT107791	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT649691	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649690	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT649689	hsa-miR-1248	HITS-CLIP	23824327
MIRT107796	hsa-miR-4469	HITS-CLIP	23824327
MIRT107801	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT107795	hsa-miR-4287	HITS-CLIP	23824327
MIRT107797	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT649688	hsa-miR-4641	HITS-CLIP	23824327
MIRT107788	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT107789	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT107800	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT107798	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT107799	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT107793	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT649687	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649686	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649685	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT639748	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT639747	hsa-miR-5586-5p	HITS-CLIP	23824327
MIRT639746	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT639745	hsa-miR-6744-5p	HITS-CLIP	23824327
MIRT639744	hsa-miR-1255a	HITS-CLIP	23824327
MIRT639743	hsa-miR-1255b-5p	HITS-CLIP	23824327
MIRT639742	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT639741	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT639740	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT639739	hsa-miR-2113	HITS-CLIP	23824327
MIRT639738	hsa-miR-5010-3p	HITS-CLIP	23824327
MIRT107790	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT649692	hsa-miR-652-5p	HITS-CLIP	23824327
MIRT107791	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT649691	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649690	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT649689	hsa-miR-1248	HITS-CLIP	23824327
MIRT107796	hsa-miR-4469	HITS-CLIP	23824327
MIRT107801	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT107795	hsa-miR-4287	HITS-CLIP	23824327
MIRT107797	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT649688	hsa-miR-4641	HITS-CLIP	23824327
MIRT107788	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT107789	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT107800	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT107798	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT107799	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT107793	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT649687	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT649686	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT649685	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT639748	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT639747	hsa-miR-5586-5p	HITS-CLIP	23824327
MIRT639746	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT639745	hsa-miR-6744-5p	HITS-CLIP	23824327
MIRT639744	hsa-miR-1255a	HITS-CLIP	23824327
MIRT639743	hsa-miR-1255b-5p	HITS-CLIP	23824327
MIRT639742	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT639741	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT639740	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT639739	hsa-miR-2113	HITS-CLIP	23824327
MIRT639738	hsa-miR-5010-3p	HITS-CLIP	23824327
MIRT1353888	hsa-miR-1265	CLIP-seq
MIRT1353889	hsa-miR-1296	CLIP-seq
MIRT1353890	hsa-miR-132	CLIP-seq
MIRT1353891	hsa-miR-146a	CLIP-seq
MIRT1353892	hsa-miR-146b-5p	CLIP-seq
MIRT1353893	hsa-miR-1910	CLIP-seq
MIRT1353894	hsa-miR-212	CLIP-seq
MIRT1353895	hsa-miR-3605-5p	CLIP-seq
MIRT1353896	hsa-miR-3609	CLIP-seq
MIRT1353897	hsa-miR-380	CLIP-seq
MIRT1353898	hsa-miR-3923	CLIP-seq
MIRT1353899	hsa-miR-4512	CLIP-seq
MIRT1353900	hsa-miR-4773	CLIP-seq
MIRT1353901	hsa-miR-548ah	CLIP-seq
MIRT1353902	hsa-miR-548t	CLIP-seq
MIRT1353903	hsa-miR-589	CLIP-seq
MIRT2329236	hsa-miR-1271	CLIP-seq
MIRT2329237	hsa-miR-145	CLIP-seq
MIRT1353891	hsa-miR-146a	CLIP-seq
MIRT1353892	hsa-miR-146b-5p	CLIP-seq
MIRT2329238	hsa-miR-182	CLIP-seq
MIRT2329239	hsa-miR-298	CLIP-seq
MIRT2329240	hsa-miR-299-5p	CLIP-seq
MIRT2329241	hsa-miR-3144-5p	CLIP-seq
MIRT2329242	hsa-miR-3158-5p	CLIP-seq
MIRT2329243	hsa-miR-3182	CLIP-seq
MIRT2329244	hsa-miR-3191	CLIP-seq
MIRT2329245	hsa-miR-3591-5p	CLIP-seq
MIRT2329246	hsa-miR-4255	CLIP-seq
MIRT2329247	hsa-miR-4503	CLIP-seq
MIRT2329248	hsa-miR-4652-5p	CLIP-seq
MIRT2329249	hsa-miR-4667-5p	CLIP-seq
MIRT2329250	hsa-miR-4700-5p	CLIP-seq
MIRT2329251	hsa-miR-4753-3p	CLIP-seq
MIRT2329252	hsa-miR-4760-5p	CLIP-seq
MIRT2329253	hsa-miR-4768-5p	CLIP-seq
MIRT2329254	hsa-miR-552	CLIP-seq
MIRT2329255	hsa-miR-582-3p	CLIP-seq
MIRT2329256	hsa-miR-586	CLIP-seq
MIRT2329257	hsa-miR-876-3p	CLIP-seq
MIRT2329258	hsa-miR-9	CLIP-seq
MIRT2329259	hsa-miR-96	CLIP-seq
MIRT2623538	hsa-miR-21	CLIP-seq
MIRT2623539	hsa-miR-3664-5p	CLIP-seq
MIRT2623540	hsa-miR-3677-3p	CLIP-seq
MIRT2623541	hsa-miR-4440	CLIP-seq
MIRT2623542	hsa-miR-4654	CLIP-seq
MIRT2623543	hsa-miR-4699-3p	CLIP-seq
MIRT2623544	hsa-miR-4714-5p	CLIP-seq
MIRT2623545	hsa-miR-4769-5p	CLIP-seq
MIRT2623546	hsa-miR-590-5p	CLIP-seq
MIRT2623547	hsa-miR-634	CLIP-seq
MIRT2623538	hsa-miR-21	CLIP-seq
MIRT2690913	hsa-miR-2276	CLIP-seq
MIRT2623539	hsa-miR-3664-5p	CLIP-seq
MIRT2623540	hsa-miR-3677-3p	CLIP-seq
MIRT2690914	hsa-miR-4278	CLIP-seq
MIRT2623541	hsa-miR-4440	CLIP-seq
MIRT2623542	hsa-miR-4654	CLIP-seq
MIRT2623543	hsa-miR-4699-3p	CLIP-seq
MIRT2623544	hsa-miR-4714-5p	CLIP-seq
MIRT2690915	hsa-miR-4726-3p	CLIP-seq
MIRT2623545	hsa-miR-4769-5p	CLIP-seq
MIRT2690916	hsa-miR-4772-3p	CLIP-seq
MIRT2623546	hsa-miR-590-5p	CLIP-seq
MIRT2623547	hsa-miR-634	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001662	Process	Behavioral fear response	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0005253	Function	Monoatomic anion channel activity	IEA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IDA	7521911, 7914198, 12562531, 21123949
GO:0005313	Function	L-glutamate transmembrane transporter activity	IEA
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	IDA	8857541, 26690923
GO:0005314	Function	High-affinity L-glutamate transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	7914198
GO:0005886	Component	Plasma membrane	IDA	21123949
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	8857541, 26690923
GO:0005886	Component	Plasma membrane	TAS	7521911
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006750	Process	Glutathione biosynthetic process	IEA
GO:0006801	Process	Superoxide metabolic process	IEA
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:0006882	Process	Intracellular zinc ion homeostasis	IEA
GO:0007212	Process	G protein-coupled dopamine receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7521911
GO:0007420	Process	Brain development	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007613	Process	Memory	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IMP	8857541
GO:0015183	Function	L-aspartate transmembrane transporter activity	IDA	7914198
GO:0015293	Function	Symporter activity	IEA
GO:0015501	Function	Glutamate:sodium symporter activity	IBA
GO:0015501	Function	Glutamate:sodium symporter activity	IDA	8857541
GO:0015501	Function	Glutamate:sodium symporter activity	IEA
GO:0015813	Process	L-glutamate transmembrane transport	IBA
GO:0015813	Process	L-glutamate transmembrane transport	IDA	7914198, 21123949, 26690923
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IDA	7914198
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	TAS	7521911
GO:0016324	Component	Apical plasma membrane	IDA	21123949
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030534	Process	Adult behavior	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0031982	Component	Vesicle	IEA
GO:0032279	Component	Asymmetric synapse	ISS
GO:0033229	Function	Cysteine transmembrane transporter activity	IBA
GO:0033229	Function	Cysteine transmembrane transporter activity	IDA	21123949
GO:0033229	Function	Cysteine transmembrane transporter activity	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	ISS
GO:0036293	Process	Response to decreased oxygen levels	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042883	Process	Cysteine transport	IDA	21123949
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043083	Component	Synaptic cleft	ISS
GO:0043197	Component	Dendritic spine	ISS
GO:0043198	Component	Dendritic shaft	ISS
GO:0043204	Component	Perikaryon	ISS
GO:0043278	Process	Response to morphine	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048514	Process	Blood vessel morphogenesis	ISS
GO:0048678	Process	Response to axon injury	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051938	Process	L-glutamate import	IDA	7521911
GO:0055037	Component	Recycling endosome	IEA
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0060013	Process	Righting reflex	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070633	Process	Transepithelial transport	ISS
GO:0070777	Process	D-aspartate transmembrane transport	IDA	7914198
GO:0070778	Process	L-aspartate transmembrane transport	IDA	7914198
GO:0070778	Process	L-aspartate transmembrane transport	ISS
GO:0070779	Process	D-aspartate import across plasma membrane	IDA	7521911
GO:0070779	Process	D-aspartate import across plasma membrane	IMP	8857541
GO:0071242	Process	Cellular response to ammonium ion	IEA
GO:0071288	Process	Cellular response to mercury ion	IEA
GO:0071314	Process	Cellular response to cocaine	IEA
GO:0071577	Process	Zinc ion transmembrane transport	IEA
GO:0071944	Component	Cell periphery	ISS
GO:0072347	Process	Response to anesthetic	IEA
GO:0090313	Process	Regulation of protein targeting to membrane	IEA
GO:0090461	Process	Intracellular glutamate homeostasis	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0097386	Component	Glial cell projection	ISS
GO:0097440	Component	Apical dendrite	ISS
GO:0098657	Process	Import into cell	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
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	8857541
GO:0098793	Component	Presynapse	ISS
GO:0098877	Process	Neurotransmitter receptor transport to plasma membrane	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0099544	Component	Perisynaptic space	ISS
GO:0140009	Process	L-aspartate import across plasma membrane	IDA	7521911
GO:0140009	Process	L-aspartate import across plasma membrane	IMP	8857541
GO:0140010	Function	D-aspartate transmembrane transporter activity	IDA	7914198
GO:0150002	Component	Distal dendrite	ISS
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	IMP	8857541
GO:1903712	Process	Cysteine transmembrane transport	IEA
GO:1903926	Process	Cellular response to bisphenol A	IEA
GO:1990635	Component	Proximal dendrite	ISS
GO:1990708	Process	Conditioned place preference	IEA

Other IDs

• MIM: 133550
• HGNC: 10939
• e!Ensembl: ENSG00000106688

Protein

• UniProt ID: P43005
• Protein name: Excitatory amino acid transporter 3 (Excitatory amino-acid carrier 1) (Neuronal and epithelial glutamate transporter) (Sodium-dependent glutamate/aspartate transporter 3) (Solute carrier family 1 member 1)
• Protein function: Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:21123949, PubMed:26690923, PubMed:33658209, PubMed:7521911, PubMed:7914198, PubMed:8857541). Can also tra
• PDB: 6S3Q, 6X2L, 6X2Z, 6X3E, 6X3F, 7NSG, 8CTC, 8CTD, 8CUA, 8CUD, 8CUI, 8CUJ, 8CV2, 8CV3, 9D66, 9D67, 9D68, 9D69, 9D6A
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00375	SDF	20 → 465	Sodium:dicarboxylate symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested including liver, muscle, testis, ovary, retinoblastoma cell line, neurons and brain (in which there was dense expression in substantia nigra, red nucleus, hippocampus and in cerebral cortical layers). {E
• Sequence:

  MGKPARKGCEWKRFLKNNWVLLSTVAAVVLGITTGVLVREHSNLSTLEKFYFAFPGEILM
  RMLKLIILPLIISSMITGVAALDSNVSGKIGLRAVVYYFCTTLIAVILGIVLVVSIKPGV
  TQKVGEIARTGSTPEVSTVDAMLDLIRNMFPENLVQACFQQYKTKREEVKPPSDPEMNMT
  EESFTAVMTTAISKNKTKEYKIVGMYSDGINVLGLIVFCLVFGLVIGKMGEKGQILVDFF
  NALSDATMKIVQIIMCYMPLGILFLIAGKIIEVEDWEIFRKLGLYMATVLTGLAIHSIVI
  LPLIYFIVVRKNPFRFAMGMAQALLTALMISSSSATLPVTFRCAEENNQVDKRITRFVLP
  VGATINMDGTALYEAVAAVFIAQLNDLDLGIGQIITISITATSASIGAAGVPQAGLVTMV
  IVLSAVGLPAEDVTLIIAVDWLLDRFRTMVNVLGDAFGTGIVEKLSKKELEQMDVSSEVN
  IVNPFALESTILDNEDSDTKKSYVNGGFAVDKSDTISFTQTSQF

• Sequence length: 524

Pathways

KEGG:

Synaptic vesicle cycle
Glutamatergic synapse
Protein digestion and absorption

Reactome:

Glutamate Neurotransmitter Release Cycle
Transport of inorganic cations/anions and amino acids/oligopeptides
Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)

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
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs755579388	RCV000210380	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATROPHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dicarboxylic aminoaciduria	Uncertain significance; no classifications from unflagged records; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar ClinGen, ClinVar, GenCC, HPO, Orphanet ClinGen, ClinVar, GenCC, HPO, Orphanet ClinGen, ClinVar, GenCC, HPO, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DICARBOXYLICAMINOACIDURIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia 18	no classifications from unflagged records; Likely benign; Uncertain significance	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC1A1-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	23041758		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18624794	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21743130	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	11790392, 28703795, 8619555		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	20155310, 28927446		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	20155310	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20155310, 28927446		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	20155310, 32507125	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	19360657, 20155310, 31209396	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	19360657, 20155310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	31209396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	19360657		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	19360657	Associate	★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	12151515		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11850151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Infarction	Brain Infarction	BEFREE	28703795		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38310106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30862152	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	23041758		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	22575539		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis Ulcerative	Ulcerative colitis	Pubtator	32566650	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25981639		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25981639, 32566650	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Compulsive hoarding	Compulsive Hoarding	BEFREE	18286588		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	18197083		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	11906504		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CTD_human_DG	11906504		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	15207918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	28935211	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	22575539		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	21063030		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21063030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	11906504, 20231455, 24162932, 28324217, 29693164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	12151515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	17868051	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	37865723	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Benign Psychomotor, Childhood	Epilepsy	CTD_human_DG	11906504		★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	12151515		★☆☆☆☆ Found in Text Mining only
EPILEPSY, HOT WATER, 1	Epilepsy	ORPHANET_DG	28324217		★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	CTD_human_DG	11906504		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	11906504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	CTD_human_DG	11906504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	17437409		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	37084822	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	28555406		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30366949		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12786977		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12786977		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	15571509	Associate	★☆☆☆☆ Found in Text Mining only
Hot water reflex epilepsy	Hot Water Reflex Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11850151, 20357106		★☆☆☆☆ Found in Text Mining only
Immersion Related Epilepsy	Epilepsy	ORPHANET_DG	28324217		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	27232852	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21123949		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25326682		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	25032864, 26771863, 29677370		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	CTD_human_DG	28703795		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	11850151		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	CTD_human_DG	11906504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	38070581	Associate	★☆☆☆☆ Found in Text Mining only
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	28431176		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	15207918		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	23695234		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21123949		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16061389, 24162932, 28962897		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	16061389		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28962897	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27807832		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21123949		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28886095		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	23341099		★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	BEFREE	19360657, 20155310, 29229708		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	11317217, 16818866, 16818867, 17894418, 18197083, 18286588, 19152386, 19349310, 19360657, 19569082, 19861150, 19884611, 20410850, 21123949, 21445956, 22617815, 22776887, 23411042, 23564280, 23606572, 23695234, 24768158, 28507136, 29229708, 29304071, 30315580, 30622300, 30661718, 31803055		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	23041758		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	12083339		★☆☆☆☆ Found in Text Mining only
Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	19360657, 19569082, 23564280, 28507136		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31173206		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31173206	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18624794, 29304071, 32899900	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21446024		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	20155310		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	25445080		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	23341099		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	23341099		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11532723, 11850151, 16297566, 17221839, 19644675, 19716271, 19884611, 21990008, 22095641, 23341099, 23931931, 24163246, 28886095		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	17221839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29032150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	29503163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	27153812	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	29720605		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29720605		★☆☆☆☆ Found in Text Mining only
Uncinate Epilepsy	Epilepsy	CTD_human_DG	11906504		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	11850151		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	23262392		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	23041758		★☆☆☆☆ Found in Text Mining only