GRIA1 (glutamate ionotropic receptor AMPA type subunit 1)

Gene

• Entrez ID: 2890
• Gene name: Glutamate ionotropic receptor AMPA type subunit 1
• Gene symbol: GRIA1
• Synonyms (NCBI Gene): GLUH1, GLUR1, GLURA, GluA1, HBGR1, MRD67, MRT76
• Chromosome: 5
• Chromosome location: 5q33.2
• Summary: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each posses

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004156	hsa-miR-192-5p	Microarray	16822819
MIRT018501	hsa-miR-335-5p	Microarray	18185580
MIRT437901	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR	23595422
MIRT1034158	hsa-miR-103b	CLIP-seq
MIRT1034159	hsa-miR-1229	CLIP-seq
MIRT1034160	hsa-miR-3065-5p	CLIP-seq
MIRT1034161	hsa-miR-4270	CLIP-seq
MIRT1034162	hsa-miR-4303	CLIP-seq
MIRT1034163	hsa-miR-4320	CLIP-seq
MIRT1034164	hsa-miR-4441	CLIP-seq
MIRT1034165	hsa-miR-452	CLIP-seq
MIRT1034166	hsa-miR-4676-3p	CLIP-seq
MIRT1034167	hsa-miR-4762-3p	CLIP-seq
MIRT1034168	hsa-miR-490-3p	CLIP-seq
MIRT1034169	hsa-miR-548ac	CLIP-seq
MIRT1034170	hsa-miR-548d-3p	CLIP-seq
MIRT1034171	hsa-miR-548z	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT2006737	hsa-miR-1238	CLIP-seq
MIRT2006738	hsa-miR-1273e	CLIP-seq
MIRT2006739	hsa-miR-3140-3p	CLIP-seq
MIRT2239109	hsa-miR-1271	CLIP-seq
MIRT2239110	hsa-miR-1305	CLIP-seq
MIRT2239111	hsa-miR-182	CLIP-seq
MIRT2239112	hsa-miR-199a-3p	CLIP-seq
MIRT2239113	hsa-miR-199b-3p	CLIP-seq
MIRT2239114	hsa-miR-3129-5p	CLIP-seq
MIRT2239115	hsa-miR-3179	CLIP-seq
MIRT2239116	hsa-miR-4693-3p	CLIP-seq
MIRT2239117	hsa-miR-4766-3p	CLIP-seq
MIRT2239118	hsa-miR-4793-5p	CLIP-seq
MIRT2239119	hsa-miR-522	CLIP-seq
MIRT2239120	hsa-miR-548p	CLIP-seq
MIRT2239121	hsa-miR-603	CLIP-seq
MIRT2239122	hsa-miR-873	CLIP-seq
MIRT2239123	hsa-miR-96	CLIP-seq
MIRT2388757	hsa-miR-3123	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq
MIRT1920048	hsa-miR-4290	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001919	Process	Regulation of receptor recycling	IEA
GO:0001965	Function	G-protein alpha-subunit binding	IEA
GO:0004970	Function	Glutamate-gated receptor activity	IEA
GO:0004971	Function	AMPA glutamate receptor activity	IBA
GO:0004971	Function	AMPA glutamate receptor activity	IDA	1311100, 20805473, 21172611
GO:0004971	Function	AMPA glutamate receptor activity	IEA
GO:0004971	Function	AMPA glutamate receptor activity	IMP	28628100, 35675825
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	20805473, 32814053
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	1311100
GO:0005911	Component	Cell-cell junction	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	1311100
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	1311100
GO:0007416	Process	Synapse assembly	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008179	Function	Adenylate cyclase binding	IEA
GO:0008328	Component	Ionotropic glutamate receptor complex	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009744	Process	Response to sucrose	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010226	Process	Response to lithium ion	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019865	Function	Immunoglobulin binding	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	ISS
GO:0030165	Function	PDZ domain binding	IEA
GO:0030165	Function	PDZ domain binding	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031489	Function	Myosin V binding	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031623	Process	Receptor internalization	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0031681	Function	G-protein beta-subunit binding	IEA
GO:0031698	Function	Beta-2 adrenergic receptor binding	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0032279	Component	Asymmetric synapse	IEA
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IDA	23739980
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0032355	Process	Response to estradiol	IEA
GO:0032590	Component	Dendrite membrane	IEA
GO:0032591	Component	Dendritic spine membrane	IDA	20434989
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035254	Function	Glutamate receptor binding	IEA
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0043198	Component	Dendritic shaft	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0044297	Component	Cell body	IEA
GO:0044308	Component	Axonal spine	IEA
GO:0044309	Component	Neuron spine	IEA
GO:0044309	Component	Neuron spine	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	23739980
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045838	Process	Positive regulation of membrane potential	IEA
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048266	Process	Behavioral response to pain	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0051018	Function	Protein kinase A binding	IEA
GO:0051428	Function	Peptide hormone receptor binding	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0055037	Component	Recycling endosome	IDA	20434989
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055038	Component	Recycling endosome membrane	ISS
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0060992	Process	Response to fungicide	IEA
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071242	Process	Cellular response to ammonium ion	IEA
GO:0071359	Process	Cellular response to dsRNA	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0071418	Process	Cellular response to amine stimulus	IEA
GO:0090326	Process	Positive regulation of locomotion involved in locomotory behavior	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	8824304
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	8824304
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	8824304
GO:0099544	Component	Perisynaptic space	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1905232	Process	Cellular response to L-glutamate	IEA
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IEA
GO:1990635	Component	Proximal dendrite	IEA
GO:1990708	Process	Conditioned place preference	IEA
GO:1990911	Process	Response to psychosocial stress	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA

Other IDs

• MIM: 138248
• HGNC: 4571
• e!Ensembl: ENSG00000155511

Protein

• UniProt ID: P42261
• Protein name: Glutamate receptor 1 (GluR-1) (AMPA-selective glutamate receptor 1) (GluR-A) (GluR-K1) (Glutamate receptor ionotropic, AMPA 1)
• Protein function: Ionotropic glutamate receptor that functions as a ligand-gated cation channel, gated by L-glutamate and glutamatergic agonists such as alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), quisqualic acid, and kainic acid (PubMed:1311
• PDB: 6X5Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	37 → 375	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	407 → 522	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	536 → 817	Ligand-gated ion channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in brain.
• Sequence:

  MQHIFAFFCTGFLGAVVGANFPNNIQIGGLFPNQQSQEHAAFRFALSQLTEPPKLLPQID
  IVNISDSFEMTYRFCSQFSKGVYAIFGFYERRTVNMLTSFCGALHVCFITPSFPVDTSNQ
  FVLQLRPELQDALISIIDHYKWQKFVYIYDADRGLSVLQKVLDTAAEKNWQVTAVNILTT
  TEEGYRMLFQDLEKKKERLVVVDCESERLNAILGQIIKLEKNGIGYHYILANLGFMDIDL
  NKFKESGANVTGFQLVNYTDTIPAKIMQQWKNSDARDHTRVDWKRPKYTSALTYDGVKVM
  AEAFQSLRRQRIDISRRGNAGDCLANPAVPWGQGIDIQRALQQVRFEGLTGNVQFNEKGR
  RTNYTLHVIEMKHDGIRKIGYWNEDDKFVPAATDAQAGGDNSSVQNRTYIVTTILEDPYV
  MLKKNANQFEGNDRYEGYCVELAAEIAKHVGYSYRLEIVSDGKYGARDPDTKAWNGMVGE
  LVYGRADVAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLDPLAYEIW
  MCIVFAYIGVSVVLFLVSRFSPYEWHSEEFEEGRDQTTSDQSNEFGIFNSLWFSLGAFMQ
  QGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDLAKQTEIA
  YGTLEAGSTKEFFRRSKIAVFEKMWTYMKSAEPSVFVRTTEEGMIRVRKSKGKYAYLLES
  TMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKGSALRNPVNLAVLKLNEQGLLDKLKNKW
  WYDKGECGSGGGDSKDKTSALSLSNVAGVFYILIGGLGLAMLVALIEFCYKSRSESKRMK
  GFCLIPQQSINEAIRTSTLPRNSGAGASSGGSGENGRVVSHDFPKSMQSIPCMSHSSGMP
  LGATGL

• Sequence length: 906

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Dopaminergic synapse
Long-term depression
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Nicotine addiction

Reactome:

COPII-mediated vesicle transport
Activation of AMPA receptors
Trafficking of AMPA receptors
Trafficking of GluR2-containing AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Cargo concentration in the ER
Synaptic adhesion-like molecules

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
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs1561846159	RCV001291381	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRIA1-related disorder	Likely pathogenic	rs2480235236	RCV003917210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal dominant 67	Likely pathogenic; Pathogenic	rs2149520942, rs1435095170, rs2479875652, rs587776937, rs1561846159	RCV004738558 RCV003226589 RCV003226595 RCV002260601 RCV002260664	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual developmental disorder, autosomal recessive 76	Pathogenic; Likely pathogenic	rs1173036683, rs587776937	RCV002260876 RCV006257259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs587776937	RCV001420360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic intellectual disability	Likely pathogenic; Pathogenic	rs1561846159	RCV000709813	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC RHINITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS, ALLERGIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ablepharon	Ablepharon	BEFREE	29540554		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Adult Learning Disorders	Learning Disorders	CTD_human_DG	16495937		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	8915893		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35226190	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	28377502		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	12125045		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18279310, 29367641, 30457201, 31036551		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29367641	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	18317690		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	28785046		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29391390, 29728964, 29880883		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29728964, 29880883		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28628100	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	37964012	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30552946, 30984001		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36161652	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31398381, 31743624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	11706102		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	28628100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	28628100	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	35581601	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	40215689	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17299517, 17942280, 18484081, 22122651		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	18484081, 22122651		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	18484081, 24901472	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21658281		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	25697915		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	8915893		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29222408, 30118927		★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	24030684, 26800698		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	20662840		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28663035		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	23053966		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	20579352	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	22534499, 24895223, 27544849, 29019029, 29230056, 29246976, 29880883, 31015046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	23262314, 23990563, 24048851, 24725413, 24895223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	28628100, 35675825, 36161652	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	35581601	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	14985442, 23223299, 29587280, 30038264, 30355633, 9455976		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	14985442	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	15145077		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30064010		★☆☆☆☆ Found in Text Mining only
Frigidity	Frigidity	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12172541, 18317690, 18957620, 31564120		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12172541, 18317690, 18957620, 31564120		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18317690, 18957620		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18317690		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	23053966		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	15571509	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity	Hypersensitivity	Pubtator	26457809	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31682817		★☆☆☆☆ Found in Text Mining only
Hypoactive Sexual Desire Disorder	Hypoactive Sexual Desire Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30118927, 30359966, 30981860, 31471557		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24896178		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	34731330, 35675825, 36161652	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iron Overload	Iron overload	Pubtator	34057756	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28293483		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	16495937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning Disorders	BEFREE	28628100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning disorders	Pubtator	28628100	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	16495937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	16495937		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22057216, 31083176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	24613745	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21782286		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28780133, 30984001		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	8915893		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22534499, 24895223, 27544849, 29019029, 29230056, 29246976, 29880883, 31015046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	23262314, 23990563, 24048851, 24725413, 24895223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	24901472, 31310731		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	20579352, 23772601, 26800698, 27423601		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	20579352, 26800698	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	26800698		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	26800698	Associate	★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	20579352	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	24895223		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	17924980	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30359966		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18317690		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29338492		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	31234430	Inhibit	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	31234430		★☆☆☆☆ Found in Text Mining only
Orgasmic Disorder	Orgasmic Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	34937502	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37318459	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40383808	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31278444	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26457809		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	27756905		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25062106	Associate	★☆☆☆☆ Found in Text Mining only
Psychosexual Disorders	Psychosexual Disorders	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29338492		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	30222904		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30222904		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	PSYGENET_DG	21693126		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	15696539, 16526023, 17942280, 17982252, 22094384, 23053966, 25224260, 28186680, 28496171, 28785046, 30108203, 31000699, 7609609, 9099808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16526023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17942280	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21693126, 23053966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 30285260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29032150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia and related disorders	Schizophrenia	BEFREE	28785046		★☆☆☆☆ Found in Text Mining only
Schizophrenia Spectrum and Other Psychotic Disorders	Schizophrenia	Pubtator	18484081	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35675825, 36161652	Associate	★☆☆☆☆ Found in Text Mining only
Sexual Arousal Disorder	Sexual Arousal Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	BEFREE	22534499		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	24613745	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28377128, 28439226, 30159880, 30189229, 31675128		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29097330		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22057216		★☆☆☆☆ Found in Text Mining only