GRIA3 (glutamate ionotropic receptor AMPA type subunit 3)

Gene

• Entrez ID: 2892
• Gene name: Glutamate ionotropic receptor AMPA type subunit 3
• Gene symbol: GRIA3
• Synonyms (NCBI Gene): GLUR-C, GLUR-K3, GLUR3, GLURC, GluA3, MRX94, MRXSW, iGluR3
• Chromosome: X
• Chromosome location: Xq25
• 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 composed of multiple subunits, arra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852350	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852351	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137852352	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs139990565	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs146022384	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs587777361	G>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs780680047	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs1057521721	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057521729	G>A	Likely-pathogenic, not-provided	Intron variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1135401788	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1556317780	G>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1556317797	GCCTCAGAA>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437344	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR	23595422
MIRT437344	hsa-miR-124-3p	Luciferase reporter assay	27013590
MIRT755844	hsa-miR-212-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34652536
MIRT1034177	hsa-miR-1208	CLIP-seq
MIRT1034178	hsa-miR-129-5p	CLIP-seq
MIRT1034179	hsa-miR-203	CLIP-seq
MIRT1034180	hsa-miR-214	CLIP-seq
MIRT1034181	hsa-miR-34b	CLIP-seq
MIRT1034182	hsa-miR-3619-5p	CLIP-seq
MIRT1034183	hsa-miR-3663-5p	CLIP-seq
MIRT1034184	hsa-miR-375	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT1034186	hsa-miR-4291	CLIP-seq
MIRT1034187	hsa-miR-498	CLIP-seq
MIRT1034188	hsa-miR-539	CLIP-seq
MIRT1034189	hsa-miR-761	CLIP-seq
MIRT1034190	hsa-miR-922	CLIP-seq
MIRT2239130	hsa-miR-3148	CLIP-seq
MIRT2239131	hsa-miR-451b	CLIP-seq
MIRT2239132	hsa-miR-548c-3p	CLIP-seq
MIRT2239133	hsa-miR-2467-5p	CLIP-seq
MIRT2239134	hsa-miR-3188	CLIP-seq
MIRT2239135	hsa-miR-3975	CLIP-seq
MIRT2239136	hsa-miR-485-5p	CLIP-seq
MIRT2450759	hsa-miR-135a	CLIP-seq
MIRT2450760	hsa-miR-135b	CLIP-seq
MIRT2450761	hsa-miR-219-2-3p	CLIP-seq
MIRT2450762	hsa-miR-2964a-3p	CLIP-seq
MIRT2450763	hsa-miR-3119	CLIP-seq
MIRT2450764	hsa-miR-3140-3p	CLIP-seq
MIRT2450765	hsa-miR-4452	CLIP-seq
MIRT2450766	hsa-miR-653	CLIP-seq
MIRT2543045	hsa-miR-1	CLIP-seq
MIRT2543046	hsa-miR-1238	CLIP-seq
MIRT2543047	hsa-miR-127-5p	CLIP-seq
MIRT2543048	hsa-miR-1299	CLIP-seq
MIRT2543049	hsa-miR-1306	CLIP-seq
MIRT2543050	hsa-miR-146a	CLIP-seq
MIRT2543051	hsa-miR-146b-5p	CLIP-seq
MIRT2543052	hsa-miR-149	CLIP-seq
MIRT2543053	hsa-miR-206	CLIP-seq
MIRT2543054	hsa-miR-24	CLIP-seq
MIRT2543055	hsa-miR-3064-5p	CLIP-seq
MIRT2543056	hsa-miR-3126-3p	CLIP-seq
MIRT2543057	hsa-miR-3155	CLIP-seq
MIRT2543058	hsa-miR-3155b	CLIP-seq
MIRT2543059	hsa-miR-3177-5p	CLIP-seq
MIRT2543060	hsa-miR-3183	CLIP-seq
MIRT2543061	hsa-miR-3189-3p	CLIP-seq
MIRT2543062	hsa-miR-3605-3p	CLIP-seq
MIRT2543063	hsa-miR-362-5p	CLIP-seq
MIRT2543064	hsa-miR-3664-3p	CLIP-seq
MIRT2543065	hsa-miR-3673	CLIP-seq
MIRT2543066	hsa-miR-370	CLIP-seq
MIRT2543067	hsa-miR-3910	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT2543068	hsa-miR-3978	CLIP-seq
MIRT2543069	hsa-miR-4258	CLIP-seq
MIRT2543070	hsa-miR-4261	CLIP-seq
MIRT2543071	hsa-miR-4284	CLIP-seq
MIRT2543072	hsa-miR-4318	CLIP-seq
MIRT2543073	hsa-miR-4421	CLIP-seq
MIRT2543074	hsa-miR-4428	CLIP-seq
MIRT2543075	hsa-miR-4448	CLIP-seq
MIRT2543076	hsa-miR-4449	CLIP-seq
MIRT2543077	hsa-miR-4524	CLIP-seq
MIRT2543078	hsa-miR-4527	CLIP-seq
MIRT2543079	hsa-miR-4539	CLIP-seq
MIRT2543080	hsa-miR-4635	CLIP-seq
MIRT2543081	hsa-miR-4645-5p	CLIP-seq
MIRT2543082	hsa-miR-4661-3p	CLIP-seq
MIRT2543083	hsa-miR-4673	CLIP-seq
MIRT2543084	hsa-miR-4691-3p	CLIP-seq
MIRT2543085	hsa-miR-4693-3p	CLIP-seq
MIRT2543086	hsa-miR-4723-3p	CLIP-seq
MIRT2543087	hsa-miR-4782-5p	CLIP-seq
MIRT2543088	hsa-miR-4794	CLIP-seq
MIRT2543089	hsa-miR-484	CLIP-seq
MIRT2543090	hsa-miR-488	CLIP-seq
MIRT2543091	hsa-miR-494	CLIP-seq
MIRT2543092	hsa-miR-500b	CLIP-seq
MIRT2543093	hsa-miR-516b	CLIP-seq
MIRT2543094	hsa-miR-548an	CLIP-seq
MIRT2543095	hsa-miR-561	CLIP-seq
MIRT2543096	hsa-miR-589	CLIP-seq
MIRT2543097	hsa-miR-613	CLIP-seq
MIRT2543098	hsa-miR-626	CLIP-seq
MIRT2543099	hsa-miR-875-3p	CLIP-seq
MIRT2543100	hsa-miR-891a	CLIP-seq
MIRT2543045	hsa-miR-1	CLIP-seq
MIRT2543046	hsa-miR-1238	CLIP-seq
MIRT2543047	hsa-miR-127-5p	CLIP-seq
MIRT2682081	hsa-miR-128	CLIP-seq
MIRT2543050	hsa-miR-146a	CLIP-seq
MIRT2543051	hsa-miR-146b-5p	CLIP-seq
MIRT2543052	hsa-miR-149	CLIP-seq
MIRT2543053	hsa-miR-206	CLIP-seq
MIRT2543054	hsa-miR-24	CLIP-seq
MIRT2543055	hsa-miR-3064-5p	CLIP-seq
MIRT2543056	hsa-miR-3126-3p	CLIP-seq
MIRT2543059	hsa-miR-3177-5p	CLIP-seq
MIRT2543060	hsa-miR-3183	CLIP-seq
MIRT2543062	hsa-miR-3605-3p	CLIP-seq
MIRT2543063	hsa-miR-362-5p	CLIP-seq
MIRT2543064	hsa-miR-3664-3p	CLIP-seq
MIRT2543065	hsa-miR-3673	CLIP-seq
MIRT2543066	hsa-miR-370	CLIP-seq
MIRT2543067	hsa-miR-3910	CLIP-seq
MIRT1034185	hsa-miR-3919	CLIP-seq
MIRT2543069	hsa-miR-4258	CLIP-seq
MIRT2543071	hsa-miR-4284	CLIP-seq
MIRT2543072	hsa-miR-4318	CLIP-seq
MIRT2543073	hsa-miR-4421	CLIP-seq
MIRT2543074	hsa-miR-4428	CLIP-seq
MIRT2543076	hsa-miR-4449	CLIP-seq
MIRT2543077	hsa-miR-4524	CLIP-seq
MIRT2543078	hsa-miR-4527	CLIP-seq
MIRT2543079	hsa-miR-4539	CLIP-seq
MIRT2543080	hsa-miR-4635	CLIP-seq
MIRT2543082	hsa-miR-4661-3p	CLIP-seq
MIRT2543084	hsa-miR-4691-3p	CLIP-seq
MIRT2543085	hsa-miR-4693-3p	CLIP-seq
MIRT2682082	hsa-miR-4717-3p	CLIP-seq
MIRT2543086	hsa-miR-4723-3p	CLIP-seq
MIRT2543088	hsa-miR-4794	CLIP-seq
MIRT2543090	hsa-miR-488	CLIP-seq
MIRT2543092	hsa-miR-500b	CLIP-seq
MIRT2543094	hsa-miR-548an	CLIP-seq
MIRT2543095	hsa-miR-561	CLIP-seq
MIRT2543096	hsa-miR-589	CLIP-seq
MIRT2682083	hsa-miR-610	CLIP-seq
MIRT2543097	hsa-miR-613	CLIP-seq
MIRT2543098	hsa-miR-626	CLIP-seq
MIRT2543100	hsa-miR-891a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0004970	Function	Glutamate-gated receptor activity	IDA	17989220
GO:0004970	Function	Glutamate-gated receptor activity	IEA
GO:0004971	Function	AMPA glutamate receptor activity	IBA
GO:0004971	Function	AMPA glutamate receptor activity	IDA	21172611
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17989220
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1709304
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	1709304
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	ISS
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0032281	Component	AMPA glutamate receptor complex	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0051289	Process	Protein homotetramerization	IDA	17989220
GO:0051290	Process	Protein heterotetramerization	IDA	17989220
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060291	Process	Long-term synaptic potentiation	ISS
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	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	12670305
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	12670305
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	12670305
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

Other IDs

• MIM: 305915
• HGNC: 4573
• e!Ensembl: ENSG00000125675

Protein

• UniProt ID: P42263
• Protein name: Glutamate receptor 3 (GluR-3) (AMPA-selective glutamate receptor 3) (GluR-C) (GluR-K3) (Glutamate receptor ionotropic, AMPA 3)
• 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 (By similari
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	46 → 392	Receptor family ligand binding region	Family
  PF10613	Lig_chan-Glu_bd	423 → 538	Ligated ion channel L-glutamate- and glycine-binding site	Domain
  PF00060	Lig_chan	552 → 835	Ligand-gated ion channel	Family

• Sequence:

  MARQKKMGQSVLRAVFFLVLGLLGHSHGGFPNTISIGGLFMRNTVQEHSAFRFAVQLYNT
  NQNTTEKPFHLNYHVDHLDSSNSFSVTNAFCSQFSRGVYAIFGFYDQMSMNTLTSFCGAL
  HTSFVTPSFPTDADVQFVIQMRPALKGAILSLLGHYKWEKFVYLYDTERGFSILQAIMEA
  AVQNNWQVTARSVGNIKDVQEFRRIIEEMDRRQEKRYLIDCEVERINTILEQVVILGKHS
  RGYHYMLANLGFTDILLERVMHGGANITGFQIVNNENPMVQQFIQRWVRLDEREFPEAKN
  APLKYTSALTHDAILVIAEAFRYLRRQRVDVSRRGSAGDCLANPAVPWSQGIDIERALKM
  VQVQGMTGNIQFDTYGRRTNYTIDVYEMKVSGSRKAGYWNEYERFVPFSDQQISNDSASS
  ENRTIVVTTILESPYVMYKKNHEQLEGNERYEGYCVDLAYEIAKHVRIKYKLSIVGDGKY
  GARDPETKIWNGMVGELVYGRADIAVAPLTITLVREEVIDFSKPFMSLGISIMIKKPQKS
  KPGVFSFLDPLAYEIWMCIVFAYIGVSVVLFLVSRFSPYEWHLEDNNEEPRDPQSPPDPP
  NEFGIFNSLWFSLGAFMQQGCDISPRSLSGRIVGGVWWFFTLIIISSYTANLAAFLTVER
  MVSPIESAEDLAKQTEIAYGTLDSGSTKEFFRRSKIAVYEKMWSYMKSAEPSVFTKTTAD
  GVARVRKSKGKFAFLLESTMNEYIEQRKPCDTMKVGGNLDSKGYGVATPKGSALRNAVNL
  AVLKLNEQGLLDKLKNKWWYDKGECGSGGGDSKDKTSALSLSNVAGVFYILVGGLGLAMM
  VALIEFCYKSRAESKRMKLTKNTQNFKPAPATNTQNYATYREGYNVYGTESVKI

• Sequence length: 894

Pathways

KEGG:

cAMP signaling pathway
Neuroactive ligand-receptor interaction
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Dopaminergic synapse
Long-term depression
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Nicotine addiction
Transcriptional misregulation in cancer

Reactome:

Activation of AMPA receptors
Trafficking of AMPA receptors
Trafficking of GluR2-containing AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
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
Global developmental delay	Likely pathogenic	rs2521237636	RCV001255420	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRIA3-related complex neurodevelopmental disorder	Pathogenic	rs2147401079	RCV001728148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRIA3-related disorder	Likely pathogenic	rs2521333836, rs1057521729	RCV004531922 RCV000509420	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs587777361	RCV001260622	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs587777361	RCV001849494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability 94	Pathogenic; Likely pathogenic	rs2147401116, rs587777361, rs140908982, rs2147383715, rs2147384890, rs1193723455, rs139990565, rs1057521721, rs2521237702, rs137852350, rs137852351, rs137852352, rs2520692544, rs2521237559, rs2521333750, rs2521167101, rs2521173320, rs1135401788	RCV001814627 RCV000115024 RCV001849243 RCV002077374 RCV002250029 RCV002471360 RCV003152691 RCV003226591 RCV003226592 RCV000011069 RCV000011070 RCV000011071 RCV003236651 RCV003335832 RCV003883347 RCV004017190 RCV004556959 RCV000496189 RCV006261756	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs139990565	RCV005889955	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, 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
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disrupted sleep-wake cycle with developmental delay and learning difficulty	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED 94	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FOCAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY DUE TO GLUTAMATE IONOTROPIC RECEPTOR AMPA TYPE SUBUNIT 3 MUTATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 ANOMALIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	27453991	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	12125045		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	15264227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	15264227		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	15264227		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	23337130		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32369665, 32977175, 36161652	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10441170, 31784278		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10644433, 20226637		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	10644433, 15264227, 15526294, 17299517, 20226637		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26648591	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32977175	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	34731330	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	34731330	Associate	★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	32369665	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17989220, 29324989	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32977175	Associate	★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	19548263, 21966062, 22534499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	20579352	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	22534499, 28284346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	32369665, 36161652, 38038360	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	32977175, 38038360	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10441169, 22124977, 28063880		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32369665, 32977175, 33818783, 38038360	Associate	★☆☆☆☆ 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	38038360	Associate	★☆☆☆☆ Found in Text Mining only
Frigidity	Frigidity	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28751743, 29305592, 30983965, 31784278		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	35046935	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	CLINVAR_DG	29016847		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperekplexia	Hyperekplexia	Pubtator	32369665	Associate	★☆☆☆☆ Found in Text Mining only
Hypoactive Sexual Desire Disorder	Hypoactive Sexual Desire Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10644433, 15526294, 17568425, 19449417, 22124977, 23637084, 25904555, 25956375, 29016847		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	24721225, 32369665, 32977175, 34731330, 36161652	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	38038360	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12682273		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19391040		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19391040		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10644433		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10644433		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10644433		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10644433		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10644433		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10644433		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10644433		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	16983646		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20689760		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19548263, 22534499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	22534499, 28284346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	10644433, 15526294, 17568425, 19449417, 25956375		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	10644433, 17989220, 19449417		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 94 (disorder)	Mental retardation	UNIPROT_DG	17989220		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 94 (disorder)	Mental retardation	GENOMICS_ENGLAND_DG	17989220		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 94 (disorder)	Mental retardation	ORPHANET_DG	17989220		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 94 (disorder)	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 94 (disorder)	Mental retardation	CTD_human_DG			★☆☆☆☆ 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
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	27510426		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	32369665	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28236206		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10602120		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28629431, 31498117		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29338492		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	23337130		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	12083339		★☆☆☆☆ Found in Text Mining only
Orgasmic Disorder	Orgasmic Disorder	CTD_human_DG	19295509		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20689760		★☆☆☆☆ Found in Text Mining only
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME	Partington syndrome	CLINGEN_DG	10644433, 12848940, 16436610, 17989220, 22285418, 24721225		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28751743, 29305592, 31784278		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG	29016847		★☆☆☆☆ 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
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rasmussen Syndrome	Rasmussen`s Syndrome	BEFREE	10441170, 11160179, 15249609, 7718238, 9892506		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18163426, 23149219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18163426		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18163426, 23149219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	35396579	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34731330, 36161652, 38038360	Associate	★☆☆☆☆ Found in Text Mining only
Severe expressive language delay	Expressive language delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG	29016847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35488327	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	34731330	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	16983646		★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability due to GRIA3 mutations	Mental Retardation, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations