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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2902
Gene name Gene Name - the full gene name approved by the HGNC.	Glutamate ionotropic receptor NMDA type subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GRIN1
Synonyms (NCBI Gene) Gene synonyms aliases	DEE101, GluN1, MRD8, NDHMSD, NDHMSR, NMD-R1, NMDA1, NMDAR1, NR1, hNR1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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 factors

Show/Hide all(5)

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

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

Protein

UniProt ID

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
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
PF00060	Lig_chan	559 → 824	Ligand-gated ion channel	Family
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		Reactome
	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction 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		EPHB-mediated forward signaling Unblocking of NMDA receptors, glutamate binding and activation RAF/MAP kinase cascade Synaptic adhesion-like molecules Assembly and cell surface presentation of NMDA receptors

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy 101	rs1554770243, rs1554770057	N/A
Mental retardation	intellectual disability, Intellectual disability, autosomal dominant 8	rs1554770667, rs1588732344, rs1064797355, rs781053477, rs1554770589, rs1212517874, rs1554770243, rs387906635, rs1554770628, rs1554770064, rs1554770054, rs1554770444, rs797044925, rs771610568, rs1554770262 View all (11 more)	N/A
seizure	Seizure	rs797045047	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hemimegalencephaly	hemimegalencephaly	N/A	N/A	ClinVar
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures	neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	N/A	N/A	ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	N/A	N/A	GenCC

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	11432984, 15030408, 15287897
Anti N Methyl D Aspartate Receptor Encephalitis	Associate	22875940, 29945600, 32771066
Autism Spectrum Disorder	Associate	34726335
Autistic Disorder	Associate	28051072
Autoimmune Diseases	Associate	36323361
Basal Ganglia Diseases	Associate	35393335
Bipolar Disorder	Inhibit	17113057, 19488045
Bipolar Disorder	Associate	33875800
Brain Diseases	Associate	25864721, 28051072, 29190809
Breast Neoplasms	Associate	32235849, 33962648
Carcinoma Renal Cell	Associate	23462807
Cerebral Palsy	Associate	37537625
Cystitis	Associate	27529746
Depressive Disorder	Associate	24655651
Developmental Disabilities	Associate	28051072, 28228639, 34726335, 35393335
Diabetes Mellitus	Associate	18258217
Disease	Associate	34726335
Drug Related Side Effects and Adverse Reactions	Associate	15030408
Dyskinesias	Associate	25864721
Encephalitis	Associate	30857565
Epilepsies Myoclonic	Associate	30776697
Epilepsy	Associate	25864721, 28051072, 29190809, 34726335, 35393335
Epilepsy Temporal Lobe	Associate	12585688
Epileptic Encephalopathy Early Infantile 3	Associate	25864721
Glioma	Associate	34840971
Hand Injuries	Associate	25864721
Hyperkinesis	Associate	17010153, 25864721
Intellectual Disability	Associate	25864721, 28051072, 28228639
Kleefstra Syndrome	Stimulate	39343771
Lead Poisoning Nervous System	Associate	11432984
Macular dystrophy corneal type 1	Associate	35393335
Malformations of Cortical Development	Associate	10961623, 15030493, 35393335
Melanoma	Associate	29966365
Mental Disorders	Associate	28228639
Microcephaly	Associate	35393335
Movement Disorders	Associate	25864721, 28051072
Muscle Hypotonia	Associate	28228639
Neoplasms	Associate	24112473
Nerve Degeneration	Associate	20722663, 32771066
Nervous System Diseases	Associate	28051072
Neurodegenerative Diseases	Associate	34840971
Neurologic Manifestations	Associate	28228639
Paraneoplastic Syndromes	Associate	32771066
Rett Syndrome	Associate	31512412
Sarcoma Kaposi	Associate	35393335
Seizures	Associate	15030493, 25864721
Spasms Infantile	Associate	20722663
Status Asthmaticus	Associate	25864721
Teratoma	Associate	32771066
Thyroid Diseases	Associate	35186144
Vision Disorders	Associate	26350515

GRIN1 (glutamate ionotropic receptor NMDA type subunit 1)