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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2906
Gene name	Glutamate ionotropic receptor NMDA type subunit 2D
Gene symbol	GRIN2D
Synonyms (NCBI Gene)	DEE46EB11EIEE46GluN2DNMDAR2DNR2D
Chromosome	19
Chromosome location	19q13.33
Summary	N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certai

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs771799381	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs886040861	G>A	Pathogenic	Missense variant, coding sequence variant
rs1569064110	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569065861	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569065866	A>C	Pathogenic	Coding sequence variant, missense variant

100

Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017316	hsa-miR-335-5p	Microarray	18185580
MIRT570165	hsa-miR-4779	PAR-CLIP	20371350
MIRT570166	hsa-miR-6732-5p	PAR-CLIP	20371350
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT490927	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT490926	hsa-miR-6077	PAR-CLIP	20371350
MIRT570164	hsa-miR-765	PAR-CLIP	20371350
MIRT570163	hsa-miR-6752-5p	PAR-CLIP	20371350
MIRT570162	hsa-miR-6842-5p	PAR-CLIP	20371350
MIRT570161	hsa-miR-7110-5p	PAR-CLIP	20371350
MIRT570160	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT490925	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT490923	hsa-miR-6745	PAR-CLIP	20371350
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT490931	hsa-miR-4670-5p	PAR-CLIP	23592263
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT490928	hsa-miR-6124	PAR-CLIP	23592263
MIRT490927	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT490926	hsa-miR-6077	PAR-CLIP	23592263
MIRT490925	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490923	hsa-miR-6745	PAR-CLIP	23592263
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	26701625
MIRT490925	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT490931	hsa-miR-4670-5p	PAR-CLIP	26701625
MIRT490926	hsa-miR-6077	PAR-CLIP	26701625
MIRT490928	hsa-miR-6124	PAR-CLIP	26701625
MIRT490923	hsa-miR-6745	PAR-CLIP	26701625
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	26701625
MIRT490927	hsa-miR-7-5p	PAR-CLIP	26701625
MIRT570164	hsa-miR-765	PAR-CLIP	26701625
MIRT570165	hsa-miR-4779	PAR-CLIP	20371350
MIRT570166	hsa-miR-6732-5p	PAR-CLIP	20371350
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT490927	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT490926	hsa-miR-6077	PAR-CLIP	20371350
MIRT570164	hsa-miR-765	PAR-CLIP	20371350
MIRT570163	hsa-miR-6752-5p	PAR-CLIP	20371350
MIRT570162	hsa-miR-6842-5p	PAR-CLIP	20371350
MIRT570161	hsa-miR-7110-5p	PAR-CLIP	20371350
MIRT570160	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT490925	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT490923	hsa-miR-6745	PAR-CLIP	20371350
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT490931	hsa-miR-4670-5p	PAR-CLIP	23592263
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT490928	hsa-miR-6124	PAR-CLIP	23592263
MIRT490927	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT490926	hsa-miR-6077	PAR-CLIP	23592263
MIRT490925	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490923	hsa-miR-6745	PAR-CLIP	23592263
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT1034474	hsa-miR-1468	CLIP-seq
MIRT1034475	hsa-miR-1908	CLIP-seq
MIRT1034476	hsa-miR-2110	CLIP-seq
MIRT1034477	hsa-miR-296-5p	CLIP-seq
MIRT1034478	hsa-miR-3144-5p	CLIP-seq
MIRT1034479	hsa-miR-3150a-3p	CLIP-seq
MIRT1034480	hsa-miR-3151	CLIP-seq
MIRT1034481	hsa-miR-3191	CLIP-seq
MIRT1034482	hsa-miR-3937	CLIP-seq
MIRT1034483	hsa-miR-4436b-5p	CLIP-seq
MIRT1034484	hsa-miR-4508	CLIP-seq
MIRT1034485	hsa-miR-4532	CLIP-seq
MIRT1034486	hsa-miR-4648	CLIP-seq
MIRT1034487	hsa-miR-4652-5p	CLIP-seq
MIRT1034488	hsa-miR-615-5p	CLIP-seq
MIRT1034489	hsa-miR-663	CLIP-seq
MIRT1034490	hsa-miR-744	CLIP-seq
MIRT2239273	hsa-miR-141	CLIP-seq
MIRT2239274	hsa-miR-147	CLIP-seq
MIRT1034475	hsa-miR-1908	CLIP-seq
MIRT2239275	hsa-miR-200a	CLIP-seq
MIRT2239276	hsa-miR-3911	CLIP-seq
MIRT1034488	hsa-miR-615-5p	CLIP-seq
MIRT2239277	hsa-miR-644	CLIP-seq
MIRT1034489	hsa-miR-663	CLIP-seq
MIRT2450788	hsa-miR-3922-5p	CLIP-seq
MIRT2450789	hsa-miR-4313	CLIP-seq
MIRT2450790	hsa-miR-4655-3p	CLIP-seq
MIRT2543111	hsa-miR-1270	CLIP-seq
MIRT2543112	hsa-miR-1285	CLIP-seq
MIRT2543113	hsa-miR-2467-3p	CLIP-seq
MIRT2543114	hsa-miR-3135b	CLIP-seq
MIRT2543115	hsa-miR-3187-5p	CLIP-seq
MIRT2543116	hsa-miR-3188	CLIP-seq
MIRT2543117	hsa-miR-3652	CLIP-seq
MIRT2543118	hsa-miR-378g	CLIP-seq
MIRT2450788	hsa-miR-3922-5p	CLIP-seq
MIRT2450789	hsa-miR-4313	CLIP-seq
MIRT2543119	hsa-miR-4430	CLIP-seq
MIRT2543120	hsa-miR-4486	CLIP-seq
MIRT2450790	hsa-miR-4655-3p	CLIP-seq
MIRT2543121	hsa-miR-4683	CLIP-seq
MIRT2543122	hsa-miR-4695-5p	CLIP-seq
MIRT2543123	hsa-miR-612	CLIP-seq
MIRT2543124	hsa-miR-620	CLIP-seq
MIRT2450788	hsa-miR-3922-5p	CLIP-seq
MIRT2450789	hsa-miR-4313	CLIP-seq
MIRT2450790	hsa-miR-4655-3p	CLIP-seq

Show/Hide all (71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001964	Process	Startle response	IEA
GO:0004970	Function	Glutamate-gated receptor activity	IDA	27616483
GO:0004970	Function	Glutamate-gated receptor activity	IEA
GO:0004972	Function	NMDA glutamate receptor activity	IBA
GO:0004972	Function	NMDA glutamate receptor activity	IDA	9489750, 26875626, 26919761
GO:0004972	Function	NMDA glutamate receptor activity	IEA
GO:0004972	Function	NMDA glutamate receptor activity	ISS
GO:0004972	Function	NMDA glutamate receptor activity	TAS	17526495
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11937501
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26875626, 26919761
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	36959261
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007420	Process	Brain development	NAS	17526495
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016595	Function	Glutamate binding	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	26875626, 26919761, 36309015
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IDA	26875626
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	NAS	36959261
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045211	Component	Postsynaptic membrane	NAS	15317856
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	NAS	17526495
GO:0048168	Process	Regulation of neuronal synaptic plasticity	NAS	15003177
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0051930	Process	Regulation of sensory perception of pain	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	NAS	15003177
GO:0060079	Process	Excitatory postsynaptic potential	IBA
GO:0060291	Process	Long-term synaptic potentiation	IBA
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IDA	26875626
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	9489750, 26875626
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	9489750, 26875626
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	NAS	36959261
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495
GO:0098978	Component	Glutamatergic synapse	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	IEA
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	IEA
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	NAS	15003177
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:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	NAS	36959261

MIM	HGNC	e!Ensembl
602717	4588	ENSG00000105464

O15399

Protein name

Glutamate receptor ionotropic, NMDA 2D (GluN2D) (EB11) (Glutamate [NMDA] receptor subunit epsilon-4) (N-methyl D-aspartate receptor subtype 2D) (NMDAR2D) (NR2D)

Protein function

Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:26875626, PubMed:27616483, PubMed:28126851,

PDB

7YFF , 7YFL , 7YFM , 7YFO , 7YFR , 8E96 , 8Y1V , 9D37 , 9D38 , 9D39 , 9D3A , 9D3B , 9D3C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	83 → 396	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	473 → 569	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF00060	Lig_chan	582 → 856	Ligand-gated ion channel	Family

Sequence

MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGLGGARPLNVALVFSGP
AYAAEAARLGPAVAAAVRSPGLDVRPVALVLNGSDPRSLVLQLCDLLSGLRVHGVVFEDD
SRAPAVAPILDFLSAQTSLPIVAVHGGAALVLTPKEKGSTFLQLGSSTEQQLQVIFEVLE
EYDWTSFVAVTTRAPGHRAFLSYIEVLTDGSLVGWEHRGALTLDPGAGEAVLSAQLRSVS
AQIRLLFCAREEAEPVFRAAEEAGLTGSGYVWFMVGPQLAGGGGSGAPGEPPLLPGGAPL
PAGLFAVRSAGWRDDLARRVAAGVAVVARGAQALLRDYGFLPELGHDCRAQNRTHRGESL
HRYFMNITWDNRDYSFNEDGFLVNPSLVVISLTRDRTWEVVGSWEQQTLRLKYPLWSRYG
RFLQPVDDTQHLTVATLEERPFVIVEPADPISGTCIRDSVPCRSQLNRTHSPPPDAPRPE
KRCCKGFCIDILKRLAHTIGFSYDLYLVTNGKHGKKIDGVWNGMIGEVFYQRADMAIGSL
TINEERSEIVDFSVPFVETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAVT
VFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALVFNNSVPVENPRGTTSKIMVL
VWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQYPPLKFGTVPNGSTEK
NIRSNYPDMHSYMVRYNQPRVEEALTQLKAGKLDAFIYDAAVLNYMARKDEGCKLVTIGS
GKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGICHNDKIEVMSSKL
DIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSCCSAE
AAPPPAKPPPPPQPLPSPAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADG
FHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSYFAIVRDKEPAEPP
AGAFPGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAG
GTGGAGGGAPAAPPPCRAAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYP
YAERLGPPPGRYWSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHD
GLDGGWWAPPPPPWAAGPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGW
DLPPPAPTSRSLEDLSSCPRAAPARRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDL
GTRRGSAHFSSLESEV

Sequence length

1336

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment Long-term potentiation Glutamatergic synapse Alzheimer disease Amyotrophic lateral sclerosis Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases Cocaine addiction Amphetamine addiction Nicotine addiction Alcoholism		Unblocking of NMDA receptors, glutamate binding and activation RAF/MAP kinase cascade Synaptic adhesion-like molecules Assembly and cell surface presentation of NMDA receptors

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 46	Likely pathogenic; Pathogenic	rs1555893359, rs2147452753, rs2147455922, rs901526282, rs2147455888, rs2513690519, rs886040861, rs1569065861, rs1569065866, rs1569064110	RCV005253793 RCV001785273 RCV001785274 RCV001808954 RCV002250038 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRIN2D-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (57)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	37794492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	27480795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27616483, 33397303, 33482465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22302350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	40147550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	40147550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	26013316	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28284346, 29174627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30261285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28881265		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	27616483, 30280376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33397303, 37095367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27616483, 30280376, 31504254		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33397303, 33482465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46	Epileptic encephalopathy	UNIPROT_DG	27616483		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	30280376		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30280376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31135879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30280376		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis Dendritic	Herpetic keratitis	Pubtator	27616483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29672706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28284346, 29174627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31110197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22111545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30622023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	34446027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26269422, 29230960, 30261285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16094258, 21919190, 29317596, 31110197		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	19856012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29317596, 33208725, 8613785	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	25817860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38438090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35295962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D)