GRM5 (glutamate metabotropic receptor 5)

Gene

• Entrez ID: 2915
• Gene name: Glutamate metabotropic receptor 5
• Gene symbol: GRM5
• Synonyms (NCBI Gene): GPRC1E, MGLUR5, PPP1R86, mGlu5
• 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

miRNA

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 assay, Microarray, Immunohistochemistry (IHC)	32958647
MIRT736669	hsa-miR-129-5p	Luciferase reporter assay, qRT-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

Gene ontology (GO)

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

Other IDs

• MIM: 604102
• HGNC: 4597
• e!Ensembl: ENSG00000168959

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Reactome:

G alpha (q) signalling events
Class C/3 (Metabotropic glutamate/pheromone receptors)
Neurexins and neuroligins

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	association	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	22013185, 28306571		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32182160	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24885390, 29631635		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	11535235, 16371010, 26597638, 28645622, 29266405, 30291374, 31102766		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	26391742	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27524668, 28212015, 28390229, 28555566, 29324247, 30483137, 30873001		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	24985920, 27524668, 28212015, 28390229, 28555566, 29324247, 30483137, 30873001		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	24985920, 26645628	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12783878		★☆☆☆☆ Found in Text Mining only
Asymmetric Diabetic Proximal Motor Neuropathy	Asymmetric Diabetic Proximal Motor Neuropathy	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	25704074		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	25704074		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	19546859, 22138692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19546859, 22138692, 24985920	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19546859, 22012869, 22939004, 24985920, 25600112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	19546859, 22138692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	22012869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	22012869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	22965006, 26781481	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21315104, 25704074, 26052099, 26781481, 27071790, 27161151, 27878759, 29206810, 29316489, 30636904, 30809159, 30868621, 30873001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	21130222, 26052099, 27161151		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	21901840	Stimulate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25956630	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	35990698	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases of the Nervous System	Autoimmune nervous system disorder	Pubtator	36831273	Stimulate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	23778581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	23778581	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	28800512, 29100629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30488581	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30488581	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	26391742	Associate	★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	29615849		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26758830, 28390229, 29079293, 30621985, 30624919		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22397687, 25956630	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23965381, 27267685, 28405888, 29062097		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32420374	Associate	★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	17634364, 18774262		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30488581		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31073978		★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	27638036		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24472577, 28212015, 28390229, 28397841, 29337350, 29628194, 30132892, 30349459, 30682501, 31526043		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	26645628	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	24472577, 26645628	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30607864		★☆☆☆☆ Found in Text Mining only
Diabetic Amyotrophy	Diabetic Amyotrophy	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
Diabetic Asymmetric Polyneuropathy	Diabetic Asymmetric Polyneuropathy	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
Diabetic Autonomic Neuropathy	Diabetic Autonomic Neuropathy	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
Diabetic Mononeuropathy	Diabetic Mononeuropathy	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
Diabetic Neuralgia	Diabetic Neuralgia	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	CTD_human_DG	19840219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Polyneuropathies	Diabetic polyneuropathy	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30607864		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	29055799, 29209553, 30259400, 30271338, 31063776, 31422483, 31754998		★☆☆☆☆ Found in Text Mining only
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	Dystonia	BEFREE	24951854		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	24951854, 31283933		★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	24951854		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28306571, 29703767, 30455705		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	36831273	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	25666312		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29070854, 29206810, 30316834, 30504280		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	22698689	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	23804486	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Benign Psychomotor, Childhood	Epilepsy	CTD_human_DG	15694259		★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	CTD_human_DG	15694259		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	10744030, 30504280, 30597619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	CTD_human_DG	15694259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	27546836, 30553198		★☆☆☆☆ Found in Text Mining only
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	BEFREE	25666312		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	33207858	Associate	★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	12790891		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	12790891	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	19117905, 20643379, 21090964, 21209411, 22397687, 24232444, 25695134, 26365141, 26764156, 26781481, 26868443, 27411166, 27797833, 28816242, 29062097, 29163043, 30451888, 30653533, 30807820, 31045620		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	17437409		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	28337838		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31537867	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	17634364, 18774262		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34847940	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	29143330		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	22013185, 28306571, 31826140		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	36831273	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25160573, 29259100, 29631635, 29794227, 30028018		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22397687, 23965381, 26349010, 27267685, 28405888, 28945221, 29062097, 29615849, 30970677		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29615849, 30873001		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	21103359, 24885390		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24236200, 28740338		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	20600666, 21635931, 24472577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	21635931, 24472577, 27123695, 27140693, 27821711, 28397841, 29100629, 29628194, 30553696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059, 29942085, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	28891868		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	30347216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28455267		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24236200, 28740338		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29849049		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	24472577, 28212015, 28390229, 28397841, 29337350, 29628194, 30132892, 30349459, 30682501, 31526043		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20303363, 24472577, 28392321, 29100629, 29608920		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30873001		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34263680	Associate	★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	19546859, 22138692		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	27638036		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	25956630	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	31265863		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35394130	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18619983		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26730743	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29703767, 30347216		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30013509, 30972540, 31376155		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12783878		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27578019, 29631635, 30291374		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29316489, 29936568		★☆☆☆☆ Found in Text Mining only
Neuropathy, Painful	Neuropathy	BEFREE	29074619		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	17634364, 18774262		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	18063347, 23965381, 25937172		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	29100629, 30845202		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24399291, 28231291		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24399291	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21103359, 24040811, 26758830, 28455267, 28631520, 28694498, 29055799, 29177707, 29458170, 29625424, 29649522, 30230118, 30271338, 30439288, 31073978, 31422483, 31754998		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	17634364, 18774262		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	29615849		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28716937, 29100629		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	11326300, 18063347, 23965381, 25937172		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30488581		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28615682		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	26936821		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11326300, 11352574, 20007903, 23149219, 23253944, 23291536, 23778581, 23965381, 24365204, 24472577, 25666312, 25937172, 26349010, 27581816, 27847228, 28405888, 28433499, 29096426, 29176430, 29936568, 30214040, 30401923, 30890967, 31747354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23149219, 24365204, 24472577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	23778581	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24472577, 26391742, 29032150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Diseases	Skin disease	Pubtator	28669525	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	17634364, 18774262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	BEFREE	30504280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	17634364, 18774262		★☆☆☆☆ Found in Text Mining only
Stress Disorders, Traumatic	Stress Disorder	BEFREE	29100629		★☆☆☆☆ Found in Text Mining only
Symmetric Diabetic Proximal Motor Neuropathy	Symmetric Diabetic Proximal Motor Neuropathy	CTD_human_DG	19840219		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	26781481, 29206810		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	26781481	Associate	★☆☆☆☆ Found in Text Mining only
Uncinate Epilepsy	Epilepsy	CTD_human_DG	15694259		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	20600666, 21635931, 24472577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	24472577, 27821711, 29628194, 30553696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations