GRIA2 (glutamate ionotropic receptor AMPA type subunit 2)

Gene

• Entrez ID: 2891
• Gene name: Glutamate ionotropic receptor AMPA type subunit 2
• Gene symbol: GRIA2
• Synonyms (NCBI Gene): GLUR2, GLURB, GluA2, GluR-K2, HBGR2, NEDLIB, gluR-2, gluR-B
• Chromosome: 4
• Chromosome location: 4q32.1
• Summary: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to al

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1579377564	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003035	hsa-miR-181b-5p	Luciferase assay/RT-PCR	18184693
MIRT003035	hsa-miR-181b-5p	Luciferase reporter assay	18184693
MIRT003035	hsa-miR-181b-5p	Reporter assay;Other	18184693
MIRT437343	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR	23595422
MIRT437343	hsa-miR-124-3p	Luciferase reporter assay	27013590
MIRT1034172	hsa-miR-1278	CLIP-seq
MIRT1034173	hsa-miR-133a	CLIP-seq
MIRT1034174	hsa-miR-133b	CLIP-seq
MIRT1034175	hsa-miR-4716-5p	CLIP-seq
MIRT1034176	hsa-miR-548c-3p	CLIP-seq
MIRT2239124	hsa-miR-1275	CLIP-seq
MIRT2239125	hsa-miR-31	CLIP-seq
MIRT2239126	hsa-miR-4260	CLIP-seq
MIRT2239127	hsa-miR-4488	CLIP-seq
MIRT2239128	hsa-miR-4665-5p	CLIP-seq
MIRT2239129	hsa-miR-4697-5p	CLIP-seq
MIRT2682079	hsa-miR-4668-3p	CLIP-seq
MIRT2682080	hsa-miR-4698	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001540	Function	Amyloid-beta binding	NAS	20032460
GO:0004970	Function	Glutamate-gated receptor activity	IDA	20614889
GO:0004970	Function	Glutamate-gated receptor activity	IEA
GO:0004971	Function	AMPA glutamate receptor activity	IBA
GO:0004971	Function	AMPA glutamate receptor activity	ISS
GO:0004971	Function	AMPA glutamate receptor activity	NAS	20032460
GO:0004971	Function	AMPA glutamate receptor activity	TAS	8003671
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	12130635, 16724110, 20018661
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8003671
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	8003671
GO:0007268	Process	Chemical synaptic transmission	TAS	8003671
GO:0009897	Component	External side of plasma membrane	TAS	21221849
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0032279	Component	Asymmetric synapse	ISS
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IDA	20614889
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035249	Process	Synaptic transmission, glutamatergic	TAS	21221849
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	NAS	20032460
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0060076	Component	Excitatory synapse	NAS	20032460
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098794	Component	Postsynapse	TAS	21221849
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098843	Component	Postsynaptic endocytic zone	NAS	20032460
GO:0099094	Function	Ligand-gated monoatomic cation channel activity	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA

Other IDs

• MIM: 138247
• HGNC: 4572
• e!Ensembl: ENSG00000120251

Protein

• UniProt ID: P42262
• Protein name: Glutamate receptor 2 (GluR-2) (AMPA-selective glutamate receptor 2) (GluR-B) (GluR-K2) (Glutamate receptor ionotropic, AMPA 2)
• 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:2061
• PDB: 2WJW, 2WJX, 2XHD, 3R7X, 3RN8, 3RNN, 3UA8, 5H8S, 5YBF, 5YBG, 5ZG0, 5ZG1, 5ZG2, 5ZG3, 7F3O, 8I0B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	42 → 382	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	414 → 529	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	543 → 824	Ligand-gated ion channel	Family

• Sequence:

  MQKIMHISVLLSPVLWGLIFGVSSNSIQIGGLFPRGADQEYSAFRVGMVQFSTSEFRLTP
  HIDNLEVANSFAVTNAFCSQFSRGVYAIFGFYDKKSVNTITSFCGTLHVSFITPSFPTDG
  THPFVIQMRPDLKGALLSLIEYYQWDKFAYLYDSDRGLSTLQAVLDSAAEKKWQVTAINV
  GNINNDKKDEMYRSLFQDLELKKERRVILDCERDKVNDIVDQVITIGKHVKGYHYIIANL
  GFTDGDLLKIQFGGANVSGFQIVDYDDSLVSKFIERWSTLEEKEYPGAHTTTIKYTSALT
  YDAVQVMTEAFRNLRKQRIEISRRGNAGDCLANPAVPWGQGVEIERALKQVQVEGLSGNI
  KFDQNGKRINYTINIMELKTNGPRKIGYWSEVDKMVVTLTELPSGNDTSGLENKTVVVTT
  ILESPYVMMKKNHEMLEGNERYEGYCVDLAAEIAKHCGFKYKLTIVGDGKYGARDADTKI
  WNGMVGELVYGKADIAIAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKSKPGVFSFLD
  PLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHTEEFEDGRETQSSESTNEFGIFNSLWF
  SLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVERMVSPIESAEDL
  SKQTEIAYGTLDSGSTKEFFRRSKIAVFDKMWTYMRSAEPSVFVRTTAEGVARVRKSKGK
  YAYLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGIATPKGSSLRNAVNLAVLKLNEQGLL
  DKLKNKWWYDKGECGSGGGDSKEKTSALSLSNVAGVFYILVGGLGLAMLVALIEFCYKSR
  AEAKRMKVAKNAQNINPSSSQNSQNFATYKEGYNVYGIESVKI

• Sequence length: 883

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
Cocaine addiction
Amphetamine addiction
Nicotine addiction

Reactome:

Activation of AMPA receptors
Trafficking of GluR2-containing AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation

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
Neurodevelopmental delay	Likely pathogenic	rs2127000716, rs538981621	RCV002274340 RCV002274341	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with language impairment and behavioral abnormalities	Likely pathogenic; Pathogenic	rs143505003, rs2126940512, rs761753966, rs2126951773, rs2127000861, rs2127000875, rs2127004544, rs2127004559, rs2126866545, rs2126951829, rs2126940142, rs2126951757, rs2126885680, rs1734386587, rs2530754055, rs2530775606, rs1579377586, rs2530690874, rs2530853195, rs2530775821, rs2530775670, rs2530754438, rs2530853550, rs1579377564, rs1735303754, rs1735116193, rs1735294501, rs765072736, rs1736569883	RCV001374379 RCV001374382 RCV001374384 RCV001374383 RCV001374380 RCV001374381 RCV001374387 RCV001374386 RCV001527617 RCV001775370 RCV002226627 RCV002250028 RCV002272682 RCV003151887 RCV002287603 RCV002468717 RCV003226598 RCV003226599 RCV003322660 RCV003335831 RCV003335900 RCV003482192 RCV003594707 RCV003761184 RCV001195084 RCV001195081 RCV001195082 RCV001195083 RCV001195085 RCV001254076	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC RHINITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRIA2-related disorder	Uncertain significance; 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
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ 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
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS, ALLERGIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	22644307		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	22417861		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19295912	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33401309, 34269494	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30009679		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10589532, 12694394, 14985749, 15294873, 16225946, 18279310, 20372915, 20409611, 20424386, 22226999, 24355598, 28208729, 29944911		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	12125045, 14985749		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	12694394	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	16225946, 20372915, 20424386		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	20153402		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	20153402		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28167531, 30453142		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30552946		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31300657, 35134694, 36161652, 36329391	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28733898, 31133774, 31300657		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21383172		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36329391	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28693266		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	31565045		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17299517, 19448189, 22122651		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19448189	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	22122651, 31775160		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Injuries	Brain injuries	Pubtator	16680761	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	16225946		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22644307		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28693266		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	18953328		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16215279, 23112146, 28719803		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	30142400		★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	19222700		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	18971481		★☆☆☆☆ Found in Text Mining only
Craniodiaphyseal dysplasia	Craniodiaphyseal Dysplasia	BEFREE	30952813		★☆☆☆☆ Found in Text Mining only
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)	Craniodiaphyseal dysplasia	BEFREE	30952813		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	36123899	Inhibit	★☆☆☆☆ Found in Text Mining only
Cyclin-dependent kinase-like 5 deficiency	Cyclin-Dependent Kinase-Like 5 Deficiency	BEFREE	30952813		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29230056, 30590038		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31300657, 36161652	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18258217		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18258217		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18258217	Stimulate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31195997		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	11119696, 14985442, 15006707, 20188170, 24098468, 28214985, 28888867, 29193067, 29228686, 29489588, 30908586, 9347614		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	14985442, 33441621, 36161652	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	11442354, 30064010		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	15145077		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31300657	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	14630051		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	29339535		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12172541, 28167531, 31814223		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26047211	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28167531	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12172541, 28167531, 31814223		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11717408	Associate	★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	19222700		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35185781	Associate	★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	15571509	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	36161652	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	16680761	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20358617, 21419184, 30142400		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19623214, 22669415, 31300657, 34731330, 36161652	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22669415, 31300657		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	31300657		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	37041519	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	16215279, 22371606		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	35185781	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	19447293	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22057216, 23613500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22057216, 23613500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development	Cortical development malformation	Pubtator	16680761, 24613745	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11717408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28693266		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	33401309	Associate	★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	30009679, 30146304		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29230056, 30590038		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	24512576		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	20409611	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	20424386		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	30176255		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30150703		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	31195997		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28167531		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9347614		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8915893		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29280296, 29753867, 30194389		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31300657		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	31847086		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	19222700		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28693266		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29338492, 31775160		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	12083339		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	31234430	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	31234430		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22644307	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30176255, 31499061, 31759082		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	19222700		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22417861		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29338492, 31775160		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	31300657		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	31300657	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18163426, 18184693, 22094384, 31775160, 7609609, 9099808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18163426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18163426, 18184693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	16680761, 31300657, 36161652	Associate	★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	26337721		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	19222700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status epilepticus	Pubtator	24613745	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	BEFREE	29489588, 30189229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	GENOMICS_ENGLAND_DG	31300657		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	19222700		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	GENOMICS_ENGLAND_DG	31300657		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22057216, 23613500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22057216, 23613500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Fibroids	Uterine Fibroids	BEFREE	14630051		★☆☆☆☆ Found in Text Mining only