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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6505
Gene name	Solute carrier family 1 member 1
Gene symbol	SLC1A1
Synonyms (NCBI Gene)	DCBXAEAAC1EAAT3SCZD18hEAAC1
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018599	hsa-miR-335-5p	Microarray	18185580
MIRT054678	hsa-miR-96-5p	ImmunohistochemistryLuciferase reporter assayqRT-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

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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

MIM	HGNC	e!Ensembl
133550	10939	ENSG00000106688

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

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Glutamatergic synapse Protein digestion and absorption		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)

131

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs755579388	RCV000210380

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Dicarboxylic aminoaciduria	Uncertain significance; no classifications from unflagged records; Likely benign; Benign; Conflicting classifications of pathogenicity	rs368368579, rs587777696, rs587777697, rs12000219, rs2228621, rs142903137, rs774710357, rs886063965, rs764152210, rs77785435, rs886063969, rs182923521, rs886063973, rs886063974, rs886063975 View all (104 more)	RCV001336641 RCV000143976 RCV000143977 RCV000291056 RCV000274032 RCV000333800 RCV000290639 RCV000271878 RCV000358472 RCV000282336 RCV000387239 RCV000358710 RCV000305535 RCV000353458 RCV000260923 RCV000273817 RCV000389494 RCV000383598 RCV000291757 RCV000339662 RCV000393133 RCV000407345 RCV000299576 RCV000369737 RCV000402585 RCV000323263 RCV000380189 RCV000278629 RCV000317412 RCV000374531 RCV000294792 RCV000352043 RCV000403518 RCV000331206 RCV000288141 RCV000345324 RCV000304765 RCV000381127 RCV000283240 RCV000376959 RCV000287181 RCV000342193 RCV000279329 RCV000336709 RCV000370193 RCV000364362 RCV000329360 RCV000266171 RCV000349079 RCV000345996 RCV000301539 RCV000266774 RCV000375222 RCV000345145 RCV000345939 RCV000368342 RCV000270452 RCV000325722 RCV000384977 RCV000322223 RCV000391001 RCV000310943 RCV000405089 RCV000307381 RCV000307575 RCV000393965 RCV000318232 RCV003990555 RCV000760246 RCV001253950 RCV001169603 RCV001253891 RCV001167150 RCV001165488 RCV001253949 RCV001253892 RCV001253893 RCV001253894 RCV001165551 RCV001165553 RCV001165554 RCV001167148 RCV001167152 RCV001167153 RCV001167728 RCV001167729 RCV001167730 RCV001167731 RCV001165630 RCV001165631 RCV001167217 RCV001167218 RCV001167219 RCV001167220 RCV001167799 RCV001167800 RCV001167801 RCV001167802 RCV001167803 RCV001169672 RCV001169673 RCV001169674 RCV001169675 RCV001169676 RCV001165686 RCV001165687 RCV001165688 RCV001167280 RCV001167281 RCV001167282 RCV001167869 RCV001167870 RCV001167871 RCV001169741 RCV001169742 RCV001169743 RCV001167086 RCV001165552 RCV001167149 RCV001167151 RCV001196460
Ovarian serous cystadenocarcinoma	Uncertain significance	rs370778464	RCV005908859
Schizophrenia 18	no classifications from unflagged records; Likely benign; Uncertain significance	rs587777697, rs1290975121, rs200971678	RCV005042281 RCV000760246 RCV005039985
SLC1A1-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs2228621, rs143022823, rs371266520, rs142648085, rs34342853	RCV003932522 RCV003912581 RCV003917396 RCV003907347 RCV003908420

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	32566650
Alzheimer Disease	Associate	18624794
Alzheimer Disease	Inhibit	21743130
Anxiety	Associate	20155310
Anxiety Disorders	Associate	20155310, 32507125
Autism Spectrum Disorder	Associate	19360657, 20155310, 31209396
Autistic Disorder	Associate	19360657
Breast Neoplasms	Associate	38310106
Carcinoma Renal Cell	Associate	30862152
Colitis Ulcerative	Associate	32566650
Colorectal Neoplasms	Associate	25981639, 32566650
Depressive Disorder Major	Associate	28935211
Epilepsy	Inhibit	17868051
Epilepsy	Associate	37865723
GATA2 Deficiency	Associate	37084822
Hemimegalencephaly	Associate	15571509
Infertility Male	Associate	27232852
Melanoma	Associate	38070581
Mental Disorders	Associate	20155310
Multiple Sclerosis	Associate	28962897
Neoplasm Metastasis	Associate	31173206
Neoplasms	Associate	11606683, 30862152, 32566650, 37084822
Obsessive Compulsive Disorder	Associate	19349310, 19360657, 21445956, 22617815, 29304071
Osteosarcoma	Associate	31173206
Parkinson Disease	Associate	18624794, 29304071, 32899900
Phobia Social	Associate	32507125
Schizophrenia	Associate	29032150
Seizures	Associate	27153812
Stress Disorders Post Traumatic	Associate	27153812
Vision Disorders	Associate	26350515

SLC1A1 (solute carrier family 1 member 1)