Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2902
Gene name	Glutamate ionotropic receptor NMDA type subunit 1
Gene symbol	GRIN1
Synonyms (NCBI Gene)	DEE101GluN1MRD8NDHMSDNDHMSRNMD-R1NMDA1NMDAR1NR1hNR1
Chromosome	9
Chromosome location	9q34.3
Summary	The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. The

41 Show/Hide all (41)

SNP ID	Visualize variation	Clinical significance	Consequence
rs146086141	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200225692	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200777850	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs387906635	G>A	Pathogenic	Missense variant, coding sequence variant
rs771610568	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs781053477	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs797044925	G>A	Pathogenic	Coding sequence variant, missense variant
rs797045047	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs878853143	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057520055	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1060500046	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs1064794987	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795158	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795337	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795455	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795712	C>G	Not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1064797027	C>T	Pathogenic	Coding sequence variant, missense variant
rs1131691576	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691590	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691870	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554770044	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554770046	A>C	Pathogenic	Coding sequence variant, missense variant
rs1554770054	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs1554770057	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554770064	->GCA	Pathogenic	Coding sequence variant, inframe insertion
rs1554770185	->CATCGG	Pathogenic	Coding sequence variant, inframe insertion
rs1554770221	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554770248	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554770258	C>G	Pathogenic	Coding sequence variant, missense variant
rs1554770262	T>G	Pathogenic	Coding sequence variant, missense variant
rs1554770444	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554770589	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1554770624	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554770659	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554770667	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1564363665	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1564365418	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1588686286	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1588727276	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588732344	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1588735834	G>C	Likely-pathogenic	Coding sequence variant, missense variant

40 Show/Hide all (40)

miRTarBase ID	miRNA	Experiments
MIRT1034331	hsa-miR-151-5p	CLIP-seq
MIRT1034332	hsa-miR-151b	CLIP-seq
MIRT1034333	hsa-miR-184	CLIP-seq
MIRT1034334	hsa-miR-2467-3p	CLIP-seq
MIRT1034335	hsa-miR-3184	CLIP-seq
MIRT1034336	hsa-miR-3191	CLIP-seq
MIRT1034337	hsa-miR-342-5p	CLIP-seq
MIRT1034338	hsa-miR-3907	CLIP-seq
MIRT1034339	hsa-miR-423-5p	CLIP-seq
MIRT1034340	hsa-miR-4268	CLIP-seq
MIRT1034341	hsa-miR-4448	CLIP-seq
MIRT1034342	hsa-miR-4479	CLIP-seq
MIRT1034343	hsa-miR-4505	CLIP-seq
MIRT1034344	hsa-miR-4664-5p	CLIP-seq
MIRT1034345	hsa-miR-4688	CLIP-seq
MIRT1034346	hsa-miR-4731-5p	CLIP-seq
MIRT1034347	hsa-miR-4779	CLIP-seq
MIRT1034348	hsa-miR-485-5p	CLIP-seq
MIRT1034349	hsa-miR-486-3p	CLIP-seq
MIRT1034350	hsa-miR-637	CLIP-seq
MIRT2388762	hsa-miR-1908	CLIP-seq
MIRT2388763	hsa-miR-3141	CLIP-seq
MIRT2388764	hsa-miR-3180	CLIP-seq
MIRT2388765	hsa-miR-3180-3p	CLIP-seq
MIRT2388766	hsa-miR-3196	CLIP-seq
MIRT2388767	hsa-miR-3656	CLIP-seq
MIRT2388768	hsa-miR-4488	CLIP-seq
MIRT2388769	hsa-miR-4697-5p	CLIP-seq
MIRT2388770	hsa-miR-4767	CLIP-seq
MIRT2388771	hsa-miR-541	CLIP-seq
MIRT2388772	hsa-miR-654-5p	CLIP-seq
MIRT2388773	hsa-miR-663	CLIP-seq
MIRT2450780	hsa-miR-1202	CLIP-seq
MIRT2450781	hsa-miR-1207-3p	CLIP-seq
MIRT2450782	hsa-miR-3194-5p	CLIP-seq
MIRT2450783	hsa-miR-3972	CLIP-seq
MIRT2450784	hsa-miR-4270	CLIP-seq
MIRT2450785	hsa-miR-4441	CLIP-seq
MIRT2450786	hsa-miR-4646-5p	CLIP-seq
MIRT2450787	hsa-miR-4747-5p	CLIP-seq

Transcription factor	Regulation	Reference
NFKB1	Unknown	15950782
RELA	Unknown	15950782
REST	Repression	10640675
REST	Unknown	12887696;15950782
SP1	Unknown	15950782

117 Show/Hide all (117)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0004972	Function	NMDA glutamate receptor activity	IBA
GO:0004972	Function	NMDA glutamate receptor activity	IDA	7679115, 7685113
GO:0004972	Function	NMDA glutamate receptor activity	IDA	7681588, 7685113, 9489750, 24272827, 26875626, 26919761, 27164704, 28095420, 28105280, 28126851, 28228639, 38538865
GO:0004972	Function	NMDA glutamate receptor activity	IEA
GO:0004972	Function	NMDA glutamate receptor activity	IMP	28228639
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:0005262	Function	Calcium channel activity	IDA	7685113
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11937501, 17047094, 17997397, 32814053, 34321660
GO:0005516	Function	Calmodulin binding	ISS
GO:0005737	Component	Cytoplasm	ISS	17526495
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	7685113, 26875626, 26919761, 28095420, 28105280, 28126851, 28228639, 38538865
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISO
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	34321660, 36309015, 36959261
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IDA	7685113
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007420	Process	Brain development	NAS	17526495
GO:0008021	Component	Synaptic vesicle	ISS
GO:0008542	Process	Visual learning	ISS
GO:0009986	Component	Cell surface	ISS	17526495
GO:0010524	Process	Positive regulation of calcium ion transport into cytosol	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IBA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IDA	21376300
GO:0016020	Component	Membrane	IEA
GO:0016594	Function	Glycine binding	IDA	7685113, 28105280
GO:0016594	Function	Glycine binding	IEA
GO:0016594	Function	Glycine binding	IMP	17047094
GO:0016595	Function	Glutamate binding	IDA	7685113
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	7679115, 10480938, 17047094, 26875626, 26919761, 28105280, 28126851, 36309015, 36959261
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IPI	34321660, 36309015
GO:0017146	Component	NMDA selective glutamate receptor complex	ISO
GO:0017146	Component	NMDA selective glutamate receptor complex	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0018964	Process	Propylene metabolic process	ISS
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IDA	7679115, 28126851
GO:0030425	Component	Dendrite	IDA	10749211
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IDA	38598639
GO:0034702	Component	Monoatomic ion channel complex	ISS
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IBA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IMP	28228639
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISO
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISS
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	NAS	34321660, 36309015, 36959261
GO:0035725	Process	Sodium ion transmembrane transport	IDA	7679115
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042391	Process	Regulation of membrane potential	IDA	7679115, 7685113, 17047094
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	ISS
GO:0043083	Component	Synaptic cleft	ISS
GO:0043195	Component	Terminal bouton	ISS
GO:0043197	Component	Dendritic spine	ISS
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045211	Component	Postsynaptic membrane	NAS	15317856
GO:0045471	Process	Response to ethanol	IDA	18445116
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046872	Function	Metal ion binding	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:0051290	Process	Protein heterotetramerization	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISO
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	NAS	15003177, 36309015
GO:0055074	Process	Calcium ion homeostasis	ISS
GO:0060076	Component	Excitatory synapse	ISS
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IDA	7679115, 7681588, 7685113, 26919761, 28126851
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IDA	26875626
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	9489750, 24272827, 26875626, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	9489750, 24272827, 26875626, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	ISO
GO:0098655	Process	Monoatomic cation transmembrane transport	ISS
GO:0098655	Process	Monoatomic cation transmembrane transport	ISS
GO:0098655	Process	Monoatomic cation transmembrane transport	NAS	34321660, 36309015, 36959261
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	ISS
GO:0098878	Component	Neurotransmitter receptor complex	IDA	38598639
GO:0098878	Component	Neurotransmitter receptor complex	ISS
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495
GO:0160212	Function	Glycine-gated cation channel activity	ISS
GO:1903428	Process	Positive regulation of reactive oxygen species biosynthetic process	ISS
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISO
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISS
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	NAS	15003177, 34321660, 36309015
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149
GO:1905429	Process	Response to glycine	IDA	28105280
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISO
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	NAS	15003177, 36959261

MIM	HGNC	e!Ensembl
138249	4584	ENSG00000176884

Q05586

Protein name

Glutamate receptor ionotropic, NMDA 1 (GluN1) (Glutamate [NMDA] receptor subunit zeta-1) (N-methyl-D-aspartate receptor subunit NR1) (NMD-R1) (hNR1)

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:21376300, PubMed:26875626, PubMed:26919761,

PDB

2HQW , 2NR1 , 3BYA , 5H8F , 5H8H , 5H8N , 5H8Q , 5I2K , 5I2N , 5KCJ , 5KDT , 5TP9 , 5TPA , 6IRA , 6IRF , 6IRG , 6IRH , 7EOQ , 7EOR , 7EOS , 7EOT , 7EOU , 7EU7 , 7EU8 , 7YFF , 7YFL , 7YFM , 7YFO , 7YFR , 8E92 , 8E93 , 8E94 , 8E96 , 8E97 , 8E98 , 8E99 , 8JIZ , 8JJ0 , 8JJ1 , 8JJ2 , 8UUE , 8VUL , 8VUN , 8VUQ , 8VUR , 8VUS , 8VUT , 8VUU , 8VUV , 8Y1V , 9D37

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00060	Lig_chan	559 → 824	Ligand-gated ion channel	Family
PF01094	ANF_receptor	39 → 360	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	442 → 546	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF10562	CaM_bdg_C0	835 → 863	Calmodulin-binding domain C0 of NMDA receptor NR1 subunit	Domain

Sequence

MSTMRLLTLALLFSCSVARAACDPKIVNIGAVLSTRKHEQMFREAVNQANKRHGSWKIQL
NATSVTHKPNAIQMALSVCEDLISSQVYAILVSHPPTPNDHFTPTPVSYTAGFYRIPVLG
LTTRMSIYSDKSIHLSFLRTVPPYSHQSSVWFEMMRVYSWNHIILLVSDDHEGRAAQKRL
ETLLEERESKAEKVLQFDPGTKNVTALLMEAKELEARVIILSASEDDAATVYRAAAMLNM
TGSGYVWLVGEREISGNALRYAPDGILGLQLINGKNESAHISDAVGVVAQAVHELLEKEN
ITDPPRGCVGNTNIWKTGPLFKRVLMSSKYADGVTGRVEFNEDGDRKFANYSIMNLQNRK
LVQVGIYNGTHVIPNDRKIIWPGGETEKPRGYQMSTRLKIVTIHQEPFVYVKPTLSDGTC
KEEFTVNGDPVKKVICTGPNDTSPGSPRHTVPQCCYGFCIDLLIKLARTMNFTYEVHLVA
DGKFGTQERVNNSNKKEWNGMMGELLSGQADMIVAPLTINNERAQYIEFSKPFKYQGLTI
LVKKEIPRSTLDSFMQPFQSTLWLLVGLSVHVVAVMLYLLDRFSPFGRFKVNSEEEEEDA
LTLSSAMWFSWGVLLNSGIGEGAPRSFSARILGMVWAGFAMIIVASYTANLAAFLVLDRP
EERITGINDPRLRNPSDKFIYATVKQSSVDIYFRRQVELSTMYRHMEKHNYESAAEAIQA
VRDNKLHAFIWDSAVLEFEASQKCDLVTTGELFFRSGFGIGMRKDSPWKQNVSLSILKSH
ENGFMEDLDKTWVRYQECDSRSNAPATLTFENMAGVFMLVAGGIVAGIFLIFIEIAYKRH
KDARRKQMQLAFAAVNVWRKNLQDRKSGRAEPDPKKKATFRAITSTLASSFKRRRSSKDT
STGGGRGALQNQKDTVLPRRAIEREEGQLQLCSRHRES

Sequence length

938

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Ras signaling pathway	EPHB-mediated forward signaling
Rap1 signaling pathway	Unblocking of NMDA receptors, glutamate binding and activation
Calcium signaling pathway	RAF/MAP kinase cascade
cAMP signaling pathway	Synaptic adhesion-like molecules
Neuroactive ligand-receptor interaction	Assembly and cell surface presentation of NMDA receptors
Circadian entrainment
Long-term potentiation
Glutamatergic synapse
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Nicotine addiction
Alcoholism

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (12)
Developmental and epileptic encephalopathy 101	Pathogenic; Likely pathogenic	rs2131216928, rs2131299136, rs2538640589, rs1451230055, rs1554770057	RCV002051602 RCV002287532 RCV003883384 RCV006257304 RCV002051588	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs1554770243	RCV002283502	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRIN1-related disorder	Likely pathogenic; Pathogenic	rs1832499155, rs797044925, rs2538640687, rs1060500046	RCV004540527 RCV004528975 RCV004534262 RCV000844969	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs878853143, rs1554770667, rs1833598160, rs1833614590, rs1833635820	RCV000224047 RCV001260636 RCV001260633 RCV001260626 RCV001260627	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs1423513108	RCV002274342	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1451230055	RCV001375029	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT	Likely pathogenic; Pathogenic	rs1451230055	RCV002051706	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITH OR WITHOUT SEIZURES, AUTOSOMAL RECESSIVE	Likely pathogenic	rs869312865	RCV002051695	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Likely pathogenic; Pathogenic	rs2131299136, rs2131299400, rs771610568, rs2131298649, rs797044925, rs2131291544, rs1423513108, rs2131217643, rs2131297403, rs2131297434, rs2131298613, rs2538647926, rs2538643461, rs2538636884, rs2538627080 View all (57 more)	RCV001390786 RCV003493868 RCV001800228 RCV001809023 RCV001999807 View all (73 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Likely pathogenic; Pathogenic	rs869312865, rs2538640589, rs1451230055, rs1554770667	RCV000760222 RCV003883384 RCV006257304 RCV000763192	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs797045047	RCV001526577	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1554770659	RCV000656029	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (20)
Autism	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	21376300, 21376300	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	28051072	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL GENERALIZED POLYMICROGYRIA	—	Disgenet, Orphanet Disgenet, Orphanet	29365063	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
complex neurodevelopmental disorder	—	ClinGen	21376300, 27164704, 28228639, ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	34611970	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemimegalencephaly	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERALGESIA	—	CTD	27093858	★★★★★ ★★☆☆☆ 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
Prostate cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	CTD	14708030	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGEMINAL NEURALGIA	—	CTD, Disgenet CTD, Disgenet	27093858	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GRIN2D	2	["Developmental and epileptic encephalopathy","complex neurodevelopmental disorder"]	15	["Calcium signaling pathway","cAMP signaling pathway","Circadian entrainment","Long-term potentiation","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction","Alcoholism","RAF\/MAP kinase cascade"]	7	["Orphanet (Developmental and epileptic encephalopathy)","ClinGen (Neurodevelopmental disorder)","Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","ClinGen (complex neurodevelopmental disorder)"]
GRIN2B	4	["Nonsyndromic intellectual disability","Developmental and epileptic encephalopathy","Hyperalgesia","complex neurodevelopmental disorder"]	18	["Ras signaling pathway","Rap1 signaling pathway","Calcium signaling pathway","cAMP signaling pathway","Circadian entrainment","Long-term potentiation","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction"]	9	["Disgenet (Nonsyndromic intellectual disability)","Orphanet (Nonsyndromic intellectual disability)","ClinGen (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","CTD (Hyperalgesia)","ClinGen (complex neurodevelopmental disorder)"]
GRIN2A	3	["Developmental and epileptic encephalopathy","Rolandic epilepsy","complex neurodevelopmental disorder"]	16	["Ras signaling pathway","Rap1 signaling pathway","Calcium signaling pathway","cAMP signaling pathway","Circadian entrainment","Long-term potentiation","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction"]	8	["Orphanet (Developmental and epileptic encephalopathy)","ClinGen (Neurodevelopmental disorder)","GWAS catalog (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","Disgenet (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","Disgenet (Rolandic epilepsy)","ClinGen (complex neurodevelopmental disorder)"]
CHD2	3	["Developmental and epileptic encephalopathy","Rolandic epilepsy","complex neurodevelopmental disorder"]	0	[]	9	["ClinGen (Neurodevelopmental disorder)","GWAS catalog (Neurodevelopmental disorder)","CTD (Neurodevelopmental disorder)","Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","Disgenet (Rolandic epilepsy)","ClinGen (complex neurodevelopmental disorder)"]
CYFIP2	2	["Developmental and epileptic encephalopathy","complex neurodevelopmental disorder"]	0	[]	8	["Orphanet (Developmental and epileptic encephalopathy)","ClinGen (Neurodevelopmental disorder)","GWAS catalog (Neurodevelopmental disorder)","Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","ClinGen (complex neurodevelopmental disorder)"]

GRIN1 (glutamate ionotropic receptor NMDA type subunit 1)

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