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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2915
Gene name	Glutamate metabotropic receptor 5
Gene symbol	GRM5
Synonyms (NCBI Gene)	GPRC1EMGLUR5PPP1R86mGlu5
Chromosome	11
Chromosome location	11q14.2-q14.3
Summary	This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018632	hsa-miR-335-5p	Microarray	18185580
MIRT503738	hsa-miR-548n	PAR-CLIP	23446348
MIRT503737	hsa-miR-548a-5p	PAR-CLIP	23446348
MIRT503736	hsa-miR-548ab	PAR-CLIP	23446348
MIRT503735	hsa-miR-548ad-5p	PAR-CLIP	23446348
MIRT503734	hsa-miR-548ae-5p	PAR-CLIP	23446348
MIRT503733	hsa-miR-548ak	PAR-CLIP	23446348
MIRT503732	hsa-miR-548am-5p	PAR-CLIP	23446348
MIRT503731	hsa-miR-548ap-5p	PAR-CLIP	23446348
MIRT503730	hsa-miR-548aq-5p	PAR-CLIP	23446348
MIRT503729	hsa-miR-548ar-5p	PAR-CLIP	23446348
MIRT503728	hsa-miR-548as-5p	PAR-CLIP	23446348
MIRT503727	hsa-miR-548au-5p	PAR-CLIP	23446348
MIRT503726	hsa-miR-548ay-5p	PAR-CLIP	23446348
MIRT503725	hsa-miR-548b-5p	PAR-CLIP	23446348
MIRT503724	hsa-miR-548bb-5p	PAR-CLIP	23446348
MIRT503723	hsa-miR-548c-5p	PAR-CLIP	23446348
MIRT503722	hsa-miR-548d-5p	PAR-CLIP	23446348
MIRT503721	hsa-miR-548h-5p	PAR-CLIP	23446348
MIRT503720	hsa-miR-548i	PAR-CLIP	23446348
MIRT503719	hsa-miR-548j-5p	PAR-CLIP	23446348
MIRT503718	hsa-miR-548o-5p	PAR-CLIP	23446348
MIRT503717	hsa-miR-548w	PAR-CLIP	23446348
MIRT503716	hsa-miR-548y	PAR-CLIP	23446348
MIRT503715	hsa-miR-559	PAR-CLIP	23446348
MIRT503714	hsa-miR-582-3p	PAR-CLIP	23446348
MIRT503713	hsa-miR-892b	PAR-CLIP	23446348
MIRT503712	hsa-miR-4719	PAR-CLIP	23446348
MIRT503710	hsa-miR-6815-3p	PAR-CLIP	23446348
MIRT503711	hsa-miR-513b-5p	PAR-CLIP	23446348
MIRT503709	hsa-miR-510-3p	PAR-CLIP	23446348
MIRT735982	hsa-miR-128-3p	Luciferase reporter assayMicroarrayImmunohistochemistry (IHC)	32958647
MIRT736669	hsa-miR-129-5p	Luciferase reporter assayqRT-PCR	32552820
MIRT503738	hsa-miR-548n	PAR-CLIP	23446348
MIRT503737	hsa-miR-548a-5p	PAR-CLIP	23446348
MIRT503736	hsa-miR-548ab	PAR-CLIP	23446348
MIRT503735	hsa-miR-548ad-5p	PAR-CLIP	23446348
MIRT503734	hsa-miR-548ae-5p	PAR-CLIP	23446348
MIRT503733	hsa-miR-548ak	PAR-CLIP	23446348
MIRT503732	hsa-miR-548am-5p	PAR-CLIP	23446348
MIRT503731	hsa-miR-548ap-5p	PAR-CLIP	23446348
MIRT503730	hsa-miR-548aq-5p	PAR-CLIP	23446348
MIRT503729	hsa-miR-548ar-5p	PAR-CLIP	23446348
MIRT503728	hsa-miR-548as-5p	PAR-CLIP	23446348
MIRT503727	hsa-miR-548au-5p	PAR-CLIP	23446348
MIRT503726	hsa-miR-548ay-5p	PAR-CLIP	23446348
MIRT503725	hsa-miR-548b-5p	PAR-CLIP	23446348
MIRT503724	hsa-miR-548bb-5p	PAR-CLIP	23446348
MIRT503723	hsa-miR-548c-5p	PAR-CLIP	23446348
MIRT503722	hsa-miR-548d-5p	PAR-CLIP	23446348
MIRT503721	hsa-miR-548h-5p	PAR-CLIP	23446348
MIRT503720	hsa-miR-548i	PAR-CLIP	23446348
MIRT503719	hsa-miR-548j-5p	PAR-CLIP	23446348
MIRT503718	hsa-miR-548o-5p	PAR-CLIP	23446348
MIRT503717	hsa-miR-548w	PAR-CLIP	23446348
MIRT503716	hsa-miR-548y	PAR-CLIP	23446348
MIRT503715	hsa-miR-559	PAR-CLIP	23446348
MIRT503714	hsa-miR-582-3p	PAR-CLIP	23446348
MIRT503713	hsa-miR-892b	PAR-CLIP	23446348
MIRT503712	hsa-miR-4719	PAR-CLIP	23446348
MIRT503710	hsa-miR-6815-3p	PAR-CLIP	23446348
MIRT503711	hsa-miR-513b-5p	PAR-CLIP	23446348
MIRT503709	hsa-miR-510-3p	PAR-CLIP	23446348
MIRT1035111	hsa-miR-1	CLIP-seq
MIRT1035112	hsa-miR-1236	CLIP-seq
MIRT1035113	hsa-miR-1261	CLIP-seq
MIRT1035114	hsa-miR-1279	CLIP-seq
MIRT1035115	hsa-miR-128	CLIP-seq
MIRT1035116	hsa-miR-1305	CLIP-seq
MIRT1035117	hsa-miR-132	CLIP-seq
MIRT1035118	hsa-miR-144	CLIP-seq
MIRT1035119	hsa-miR-145	CLIP-seq
MIRT1035120	hsa-miR-1825	CLIP-seq
MIRT1035121	hsa-miR-199a-5p	CLIP-seq
MIRT1035122	hsa-miR-199b-5p	CLIP-seq
MIRT1035123	hsa-miR-2053	CLIP-seq
MIRT1035124	hsa-miR-206	CLIP-seq
MIRT1035125	hsa-miR-212	CLIP-seq
MIRT1035126	hsa-miR-27a	CLIP-seq
MIRT1035127	hsa-miR-27b	CLIP-seq
MIRT1035128	hsa-miR-3064-3p	CLIP-seq
MIRT1035129	hsa-miR-3065-5p	CLIP-seq
MIRT1035130	hsa-miR-3133	CLIP-seq
MIRT1035131	hsa-miR-3152-3p	CLIP-seq
MIRT1035132	hsa-miR-3152-5p	CLIP-seq
MIRT1035133	hsa-miR-3163	CLIP-seq
MIRT1035134	hsa-miR-3199	CLIP-seq
MIRT1035135	hsa-miR-3609	CLIP-seq
MIRT1035136	hsa-miR-3616-5p	CLIP-seq
MIRT1035137	hsa-miR-3646	CLIP-seq
MIRT1035138	hsa-miR-3647-3p	CLIP-seq
MIRT1035139	hsa-miR-3647-5p	CLIP-seq
MIRT1035140	hsa-miR-3662	CLIP-seq
MIRT1035141	hsa-miR-3673	CLIP-seq
MIRT1035142	hsa-miR-3919	CLIP-seq
MIRT1035143	hsa-miR-3973	CLIP-seq
MIRT1035144	hsa-miR-421	CLIP-seq
MIRT1035145	hsa-miR-4282	CLIP-seq
MIRT1035146	hsa-miR-4452	CLIP-seq
MIRT1035147	hsa-miR-4528	CLIP-seq
MIRT1035148	hsa-miR-4645-3p	CLIP-seq
MIRT1035149	hsa-miR-4648	CLIP-seq
MIRT1035150	hsa-miR-4709-5p	CLIP-seq
MIRT1035151	hsa-miR-4742-3p	CLIP-seq
MIRT1035152	hsa-miR-4773	CLIP-seq
MIRT1035153	hsa-miR-4774-3p	CLIP-seq
MIRT1035154	hsa-miR-4795-3p	CLIP-seq
MIRT1035155	hsa-miR-4795-5p	CLIP-seq
MIRT1035156	hsa-miR-500a	CLIP-seq
MIRT1035157	hsa-miR-501-5p	CLIP-seq
MIRT1035158	hsa-miR-5096	CLIP-seq
MIRT1035159	hsa-miR-513a-5p	CLIP-seq
MIRT1035160	hsa-miR-519a	CLIP-seq
MIRT1035161	hsa-miR-519b-3p	CLIP-seq
MIRT1035162	hsa-miR-519c-3p	CLIP-seq
MIRT1035163	hsa-miR-520g	CLIP-seq
MIRT1035164	hsa-miR-520h	CLIP-seq
MIRT1035165	hsa-miR-541	CLIP-seq
MIRT1035166	hsa-miR-548ah	CLIP-seq
MIRT1035167	hsa-miR-569	CLIP-seq
MIRT1035168	hsa-miR-573	CLIP-seq
MIRT1035169	hsa-miR-580	CLIP-seq
MIRT1035170	hsa-miR-613	CLIP-seq
MIRT1035171	hsa-miR-654-5p	CLIP-seq
MIRT1035172	hsa-miR-103a	CLIP-seq
MIRT1035173	hsa-miR-103b	CLIP-seq
MIRT1035174	hsa-miR-107	CLIP-seq
MIRT1035175	hsa-miR-1184	CLIP-seq
MIRT1035176	hsa-miR-1255a	CLIP-seq
MIRT1035177	hsa-miR-1255b	CLIP-seq
MIRT1035178	hsa-miR-1269	CLIP-seq
MIRT1035179	hsa-miR-1269b	CLIP-seq
MIRT1035115	hsa-miR-128	CLIP-seq
MIRT1035180	hsa-miR-1288	CLIP-seq
MIRT1035118	hsa-miR-144	CLIP-seq
MIRT1035181	hsa-miR-146b-3p	CLIP-seq
MIRT1035182	hsa-miR-22	CLIP-seq
MIRT1035183	hsa-miR-224	CLIP-seq
MIRT1035126	hsa-miR-27a	CLIP-seq
MIRT1035127	hsa-miR-27b	CLIP-seq
MIRT1035133	hsa-miR-3163	CLIP-seq
MIRT1035184	hsa-miR-3173-5p	CLIP-seq
MIRT1035185	hsa-miR-3202	CLIP-seq
MIRT1035186	hsa-miR-376a	CLIP-seq
MIRT1035187	hsa-miR-376b	CLIP-seq
MIRT1035145	hsa-miR-4282	CLIP-seq
MIRT1035188	hsa-miR-4418	CLIP-seq
MIRT1035189	hsa-miR-4481	CLIP-seq
MIRT1035190	hsa-miR-4515	CLIP-seq
MIRT1035191	hsa-miR-4533	CLIP-seq
MIRT1035192	hsa-miR-4694-3p	CLIP-seq
MIRT1035193	hsa-miR-4698	CLIP-seq
MIRT1035194	hsa-miR-4740-5p	CLIP-seq
MIRT1035151	hsa-miR-4742-3p	CLIP-seq
MIRT1035195	hsa-miR-4745-5p	CLIP-seq
MIRT1035196	hsa-miR-4758-5p	CLIP-seq
MIRT1035197	hsa-miR-509-3-5p	CLIP-seq
MIRT1035198	hsa-miR-509-5p	CLIP-seq
MIRT1035158	hsa-miR-5096	CLIP-seq
MIRT1035159	hsa-miR-513a-5p	CLIP-seq
MIRT1035199	hsa-miR-874	CLIP-seq
MIRT1035200	hsa-miR-922	CLIP-seq
MIRT1035182	hsa-miR-22	CLIP-seq
MIRT1035128	hsa-miR-3064-3p	CLIP-seq
MIRT1035130	hsa-miR-3133	CLIP-seq
MIRT1035142	hsa-miR-3919	CLIP-seq
MIRT2006905	hsa-miR-4670-3p	CLIP-seq
MIRT2006906	hsa-miR-4769-3p	CLIP-seq
MIRT2006907	hsa-miR-518d-5p	CLIP-seq
MIRT2006908	hsa-miR-519b-5p	CLIP-seq
MIRT2006909	hsa-miR-519c-5p	CLIP-seq
MIRT2006910	hsa-miR-520c-5p	CLIP-seq
MIRT2006911	hsa-miR-526a	CLIP-seq
MIRT1035115	hsa-miR-128	CLIP-seq
MIRT1035118	hsa-miR-144	CLIP-seq
MIRT1035182	hsa-miR-22	CLIP-seq
MIRT1035183	hsa-miR-224	CLIP-seq
MIRT1035126	hsa-miR-27a	CLIP-seq
MIRT1035127	hsa-miR-27b	CLIP-seq
MIRT1035128	hsa-miR-3064-3p	CLIP-seq
MIRT1035130	hsa-miR-3133	CLIP-seq
MIRT2239437	hsa-miR-3135b	CLIP-seq
MIRT2239438	hsa-miR-3180-5p	CLIP-seq
MIRT2239439	hsa-miR-3652	CLIP-seq
MIRT2239440	hsa-miR-3670	CLIP-seq
MIRT1035142	hsa-miR-3919	CLIP-seq
MIRT2239441	hsa-miR-4263	CLIP-seq
MIRT2239442	hsa-miR-4307	CLIP-seq
MIRT2239443	hsa-miR-4430	CLIP-seq
MIRT2239444	hsa-miR-4633-3p	CLIP-seq
MIRT2239445	hsa-miR-4676-5p	CLIP-seq
MIRT1035151	hsa-miR-4742-3p	CLIP-seq
MIRT2239446	hsa-miR-4755-3p	CLIP-seq
MIRT2239447	hsa-miR-4762-5p	CLIP-seq
MIRT1035158	hsa-miR-5096	CLIP-seq
MIRT1035159	hsa-miR-513a-5p	CLIP-seq
MIRT2239448	hsa-miR-520a-5p	CLIP-seq
MIRT2239449	hsa-miR-520d-5p	CLIP-seq
MIRT2239450	hsa-miR-524-5p	CLIP-seq
MIRT2239451	hsa-miR-525-5p	CLIP-seq
MIRT2239452	hsa-miR-548c-3p	CLIP-seq
MIRT2239453	hsa-miR-575	CLIP-seq
MIRT2239454	hsa-miR-576-5p	CLIP-seq
MIRT2388791	hsa-miR-371-5p	CLIP-seq
MIRT2388792	hsa-miR-371b-5p	CLIP-seq
MIRT2450806	hsa-miR-143	CLIP-seq
MIRT2450807	hsa-miR-3689a-3p	CLIP-seq
MIRT2450808	hsa-miR-3689c	CLIP-seq
MIRT2450809	hsa-miR-4311	CLIP-seq
MIRT1035148	hsa-miR-4645-3p	CLIP-seq
MIRT2450810	hsa-miR-4728-5p	CLIP-seq
MIRT2450811	hsa-miR-4770	CLIP-seq

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001640	Function	Adenylate cyclase inhibiting G protein-coupled glutamate receptor activity	IBA
GO:0002029	Process	Desensitization of G protein-coupled receptor signaling pathway	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IMP	7908515
GO:0005515	Function	Protein binding	IPI	19694902, 28130356
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	7908515
GO:0005886	Component	Plasma membrane	TAS	7908515
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007196	Process	Adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway	IEA
GO:0007206	Process	Phospholipase C-activating G protein-coupled glutamate receptor signaling pathway	IDA	24012003
GO:0007206	Process	Phospholipase C-activating G protein-coupled glutamate receptor signaling pathway	IEA
GO:0007206	Process	Phospholipase C-activating G protein-coupled glutamate receptor signaling pathway	TAS	7908515
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IBA
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IEA
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IMP	7908515
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7908515
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	ISS
GO:0007612	Process	Learning	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008066	Function	Glutamate receptor activity	IDA	7908515
GO:0008066	Function	Glutamate receptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	24012003
GO:0030296	Function	Protein tyrosine kinase activator activity	IEA
GO:0030425	Component	Dendrite	IDA	24012003
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	IEA
GO:0031687	Function	A2A adenosine receptor binding	IEA
GO:0042802	Function	Identical protein binding	IPI	30675062
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IGI	24012003
GO:0050890	Process	Cognition	IMP	23227193
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0097449	Component	Astrocyte projection	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099530	Function	G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential	IBA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:0099583	Function	Neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IBA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
GO:1904646	Process	Cellular response to amyloid-beta	IEA
GO:1904646	Process	Cellular response to amyloid-beta	IGI	24012003
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:1990782	Function	Protein tyrosine kinase binding	IEA
GO:1990782	Function	Protein tyrosine kinase binding	ISS

MIM	HGNC	e!Ensembl
604102	4597	ENSG00000168959

P41594

Protein name

Metabotropic glutamate receptor 5 (mGluR5)

Protein function

G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling activates a phospha

PDB

3LMK , 4OO9 , 5CGC , 5CGD , 6N4X , 6N4Y , 6N50 , 6N51 , 6N52 , 7FD8 , 7FD9 , 8T6J , 8T7H , 8T8M , 8TAO , 8X0B , 8X0C , 8X0D , 8X0E , 8X0F , 8X0G , 8X0H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	67 → 475	Receptor family ligand binding region	Family
PF07562	NCD3G	507 → 558	Nine Cysteines Domain of family 3 GPCR	Family
PF00003	7tm_3	591 → 824	7 transmembrane sweet-taste receptor of 3 GCPR	Family
PF10606	GluR_Homer-bdg	1162 → 1212	Homer-binding domain of metabotropic glutamate receptor	Domain

Sequence

MVLLLILSVLLLKEDVRGSAQSSERRVVAHMPGDIIIGALFSVHHQPTVDKVHERKCGAV
REQYGIQRVEAMLHTLERINSDPTLLPNITLGCEIRDSCWHSAVALEQSIEFIRDSLISS
EEEEGLVRCVDGSSSSFRSKKPIVGVIGPGSSSVAIQVQNLLQLFNIPQIAYSATSMDLS
DKTLFKYFMRVVPSDAQQARAMVDIVKRYNWTYVSAVHTEGNYGESGMEAFKDMSAKEGI
CIAHSYKIYSNAGEQSFDKLLKKLTSHLPKARVVACFCEGMTVRGLLMAMRRLGLAGEFL
LLGSDGWADRYDVTDGYQREAVGGITIKLQSPDVKWFDDYYLKLRPETNHRNPWFQEFWQ
HRFQCRLEGFPQENSKYNKTCNSSLTLKTHHVQDSKMGFVINAIYSMAYGLHNMQMSLCP
GYAGLCDAMKPIDGRKLLESLMKTNFTGVSGDTILFDENGDSPGRYEIMNFKEMGKDYFD
YINVGSWDNGELKMDDDEVWSKKSNIIRSVCSEPCEKGQIKVIRKGEVSCCWTCTPCKEN
EYVFDEYTCKACQLGSWPTDDLTGCDLIPVQYLRWGDPEPIAAVVFACLGLLATLFVTVV
FIIYRDTPVVKSSSRELCYIILAGICLGYLCTFCLIAKPKQIYCYLQRIGIGLSPAMSYS
ALVTKTNRIARILAGSKKKICTKKPRFMSACAQLVIAFILICIQLGIIVALFIMEPPDIM
HDYPSIREVYLICNTTNLGVVTPLGYNGLLILSCTFYAFKTRNVPANFNEAKYIAFTMYT
TCIIWLAFVPIYFGSNYKIITMCFSVSLSATVALGCMFVPKVYIILAKPERNVRSAFTTS
TVVRMHVGDGKSSSAASRSSSLVNLWKRRGSSGETLRYKDRRLAQHKSEIECFTPKGSMG
NGGRATMSSSNGKSVTWAQNEKSSRGQHLWQRLSIHINKKENPNQTAVIKPFPKSTESRG
LGAGAGAGGSAGGVGATGGAGCAGAGPGGPESPDAGPKALYDVAEAEEHFPAPARPRSPS
PISTLSHRAGSASRTDDDVPSLHSEPVARSSSSQGSLMEQISSVVTRFTANISELNSMML
STAAPSPGVGAPLCSSYLIPKEIQLPTTMTTFAEIQPLPAIEVTGGAQPAAGAQAAGDAA
RESPAAGPEAAAAKPDLEELVALTPPSPFRDSVDSGSTTPNSPVSESALCIPSSPKYDTL
IIRDYTQSSSSL

Sequence length

1212

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Gap junction Long-term potentiation Retrograde endocannabinoid signaling Glutamatergic synapse Alzheimer disease Huntington disease Pathways of neurodegeneration - multiple diseases		G alpha (q) signalling events Class C/3 (Metabotropic glutamate/pheromone receptors) Neurexins and neuroligins

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism spectrum disorder	association	rs1941663554	RCV001291446
See cases	Uncertain significance	rs1941664701, rs2496354075	RCV004006212 RCV004006213

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albuminuria	Associate	30547231
Alzheimer Disease	Associate	32182160
Anxiety	Associate	26391742
Anxiety Disorders	Associate	24985920, 26645628
Attention Deficit Disorder with Hyperactivity	Associate	19546859, 22138692, 24985920
Autism Spectrum Disorder	Associate	22965006, 26781481
Autistic Disorder	Stimulate	21901840
Autistic Disorder	Associate	25956630
Autoimmune Diseases of the Nervous System	Associate	35990698
Autoimmune Diseases of the Nervous System	Stimulate	36831273
Bipolar Disorder	Inhibit	23778581
Carcinoma Renal Cell	Stimulate	30488581
Carcinoma Renal Cell	Associate	30488581
Chronic Pain	Associate	26391742
Cognition Disorders	Associate	22397687, 25956630
Colonic Neoplasms	Associate	32420374
Communicable Diseases	Associate	35990698
Depressive Disorder	Associate	26645628
Depressive Disorder Major	Associate	24472577, 26645628
Drug Related Side Effects and Adverse Reactions	Associate	33207858
Dysplastic Nevus Syndrome	Associate	12790891
Embolism Fat	Associate	33207858
Encephalitis	Associate	36831273
Encephalitis Viral	Associate	37891420
Epilepsy Temporal Lobe	Associate	22698689
Epilepsy Temporal Lobe	Stimulate	23804486
Fatigue	Associate	29849049
Fatty Liver	Associate	33207858
Fetal Alcohol Spectrum Disorders	Associate	37433363
Focal Cortical Dysplasia	Associate	12790891
Fragile X Syndrome	Associate	22397687, 25956630, 26781481, 28816242
Fragile X Syndrome	Inhibit	34354107
Fragile X Tremor Ataxia Syndrome	Associate	24332449
Glioma	Associate	31537867
Hearing Loss	Associate	34847940
Heredodegenerative Disorders Nervous System	Associate	28669525
Hippocampal Sclerosis	Associate	23804486
Hodgkin Disease	Associate	36831273
Inflammation	Associate	29849049, 38146365
Insulinoma	Associate	29851790
Mental Disorders	Associate	24472577, 29880880
Migraine Disorders	Associate	34263680
Mood Disorders	Associate	25956630
Multiple Myeloma	Stimulate	35394130
Nasopharyngeal Carcinoma	Associate	26730743
Neoplasms	Associate	20061814, 29849049, 30488581, 36831273
Neoplasms	Stimulate	30488581
Osteosarcoma	Associate	24399291
Paraneoplastic Syndromes Nervous System	Associate	36831273
Reperfusion Injury	Inhibit	33207858
Schizophrenia	Inhibit	23778581
Schizophrenia	Associate	24472577, 26391742, 29032150
Skin Diseases	Associate	28669525
Syndrome	Associate	36831273
Tuberous Sclerosis	Associate	26781481
Uniparental Disomy	Associate	33494996

GRM5 (glutamate metabotropic receptor 5)