GRM1 (glutamate metabotropic receptor 1)

Gene

• Entrez ID: 2911
• Gene name: Glutamate metabotropic receptor 1
• Gene symbol: GRM1
• Synonyms (NCBI Gene): GPRC1A, MGLU1, MGLUR1, PPP1R85, SCA44, SCAR13
• Chromosome: 6
• Chromosome location: 6q24.3
• Summary: This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutam

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs211694392	GAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs211694393	T>C,G	Pathogenic	Splice donor variant
rs752403373	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs758809498	T>-,TT	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs774214806	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, genic upstream transcript variant
rs1554274719	A>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1554308513	A>G	Pathogenic	Missense variant, coding sequence variant
rs1554317158	->C	Pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022650	hsa-miR-124-3p	Microarray	18668037
MIRT721806	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT721804	hsa-miR-5193	HITS-CLIP	19536157
MIRT721805	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT721803	hsa-miR-1285-3p	HITS-CLIP	19536157
MIRT721801	hsa-miR-3187-5p	HITS-CLIP	19536157
MIRT721802	hsa-miR-5189-5p	HITS-CLIP	19536157
MIRT721800	hsa-miR-612	HITS-CLIP	19536157
MIRT721799	hsa-miR-6860	HITS-CLIP	19536157
MIRT721798	hsa-miR-4505	HITS-CLIP	19536157
MIRT721797	hsa-miR-5787	HITS-CLIP	19536157
MIRT721796	hsa-miR-3945	HITS-CLIP	19536157
MIRT721795	hsa-miR-4253	HITS-CLIP	19536157
MIRT721794	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT721793	hsa-miR-1281	HITS-CLIP	19536157
MIRT721806	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT721804	hsa-miR-5193	HITS-CLIP	19536157
MIRT721805	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT721803	hsa-miR-1285-3p	HITS-CLIP	19536157
MIRT721801	hsa-miR-3187-5p	HITS-CLIP	19536157
MIRT721802	hsa-miR-5189-5p	HITS-CLIP	19536157
MIRT721800	hsa-miR-612	HITS-CLIP	19536157
MIRT721799	hsa-miR-6860	HITS-CLIP	19536157
MIRT721798	hsa-miR-4505	HITS-CLIP	19536157
MIRT721797	hsa-miR-5787	HITS-CLIP	19536157
MIRT721796	hsa-miR-3945	HITS-CLIP	19536157
MIRT721795	hsa-miR-4253	HITS-CLIP	19536157
MIRT721794	hsa-miR-6862-5p	HITS-CLIP	19536157
MIRT721793	hsa-miR-1281	HITS-CLIP	19536157
MIRT1035051	hsa-miR-101	CLIP-seq
MIRT1035052	hsa-miR-139-5p	CLIP-seq
MIRT1035053	hsa-miR-144	CLIP-seq
MIRT1035054	hsa-miR-15a	CLIP-seq
MIRT1035055	hsa-miR-15b	CLIP-seq
MIRT1035056	hsa-miR-16	CLIP-seq
MIRT1035057	hsa-miR-195	CLIP-seq
MIRT1035058	hsa-miR-221	CLIP-seq
MIRT1035059	hsa-miR-222	CLIP-seq
MIRT1035060	hsa-miR-3160-5p	CLIP-seq
MIRT1035061	hsa-miR-3190	CLIP-seq
MIRT1035062	hsa-miR-3650	CLIP-seq
MIRT1035063	hsa-miR-3911	CLIP-seq
MIRT1035064	hsa-miR-424	CLIP-seq
MIRT1035065	hsa-miR-4446-5p	CLIP-seq
MIRT1035066	hsa-miR-4678	CLIP-seq
MIRT1035067	hsa-miR-4755-5p	CLIP-seq
MIRT1035068	hsa-miR-4795-3p	CLIP-seq
MIRT1035069	hsa-miR-497	CLIP-seq
MIRT1035070	hsa-miR-548v	CLIP-seq
MIRT1035071	hsa-miR-642a	CLIP-seq
MIRT1035072	hsa-miR-1252	CLIP-seq
MIRT1035073	hsa-miR-1273e	CLIP-seq
MIRT1035074	hsa-miR-129-5p	CLIP-seq
MIRT1035075	hsa-miR-1587	CLIP-seq
MIRT1035076	hsa-miR-3189-3p	CLIP-seq
MIRT1035077	hsa-miR-3667-3p	CLIP-seq
MIRT1035078	hsa-miR-4326	CLIP-seq
MIRT1035079	hsa-miR-4417	CLIP-seq
MIRT1035080	hsa-miR-4444	CLIP-seq
MIRT1035081	hsa-miR-4492	CLIP-seq
MIRT1035082	hsa-miR-4498	CLIP-seq
MIRT1035083	hsa-miR-4517	CLIP-seq
MIRT1035084	hsa-miR-4656	CLIP-seq
MIRT1035085	hsa-miR-4675	CLIP-seq
MIRT1035086	hsa-miR-4687-3p	CLIP-seq
MIRT1035087	hsa-miR-4741	CLIP-seq
MIRT1035088	hsa-miR-4760-3p	CLIP-seq
MIRT1035089	hsa-miR-502-5p	CLIP-seq
MIRT1035090	hsa-miR-762	CLIP-seq
MIRT1035072	hsa-miR-1252	CLIP-seq
MIRT1035083	hsa-miR-4517	CLIP-seq
MIRT2006894	hsa-miR-3681	CLIP-seq
MIRT2239400	hsa-miR-124	CLIP-seq
MIRT1035054	hsa-miR-15a	CLIP-seq
MIRT1035055	hsa-miR-15b	CLIP-seq
MIRT1035056	hsa-miR-16	CLIP-seq
MIRT1035057	hsa-miR-195	CLIP-seq
MIRT2239401	hsa-miR-204	CLIP-seq
MIRT2239402	hsa-miR-211	CLIP-seq
MIRT2239403	hsa-miR-3688-3p	CLIP-seq
MIRT2239404	hsa-miR-3714	CLIP-seq
MIRT2239405	hsa-miR-3910	CLIP-seq
MIRT2239406	hsa-miR-3919	CLIP-seq
MIRT2239407	hsa-miR-3938	CLIP-seq
MIRT1035064	hsa-miR-424	CLIP-seq
MIRT2239408	hsa-miR-4659a-3p	CLIP-seq
MIRT2239409	hsa-miR-4659b-3p	CLIP-seq
MIRT1035067	hsa-miR-4755-5p	CLIP-seq
MIRT2239410	hsa-miR-4760-5p	CLIP-seq
MIRT1035069	hsa-miR-497	CLIP-seq
MIRT2239411	hsa-miR-506	CLIP-seq
MIRT2239412	hsa-miR-623	CLIP-seq
MIRT1035054	hsa-miR-15a	CLIP-seq
MIRT1035055	hsa-miR-15b	CLIP-seq
MIRT1035056	hsa-miR-16	CLIP-seq
MIRT1035057	hsa-miR-195	CLIP-seq
MIRT1035064	hsa-miR-424	CLIP-seq
MIRT1035069	hsa-miR-497	CLIP-seq
MIRT2450803	hsa-miR-4802-3p	CLIP-seq
MIRT2450804	hsa-miR-570	CLIP-seq
MIRT2450805	hsa-miR-600	CLIP-seq
MIRT2450803	hsa-miR-4802-3p	CLIP-seq
MIRT2450804	hsa-miR-570	CLIP-seq
MIRT2450805	hsa-miR-600	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:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	7476890
GO:0005515	Function	Protein binding	IPI	19084525
GO:0005634	Component	Nucleus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	24603153
GO:0005886	Component	Plasma membrane	TAS	7476890
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IMP	28886343
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7476890
GO:0007196	Process	Adenylate cyclase-inhibiting G protein-coupled glutamate receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	20966218, 37991948
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	27276689
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
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	IMP	24603153
GO:0007216	Process	G protein-coupled glutamate receptor signaling pathway	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9076744
GO:0007626	Process	Locomotory behavior	IEA
GO:0008066	Function	Glutamate receptor activity	IDA	10945991, 24603153
GO:0008066	Function	Glutamate receptor activity	IEA
GO:0008066	Function	Glutamate receptor activity	TAS	7476890
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0030425	Component	Dendrite	IEA
GO:0038037	Component	G protein-coupled receptor dimeric complex	IDA	24603153
GO:0038038	Component	G protein-coupled receptor homodimeric complex	IPI	10945991
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0044293	Component	Dendriole	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051930	Process	Regulation of sensory perception of pain	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098712	Process	L-glutamate import across plasma membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098872	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099530	Function	G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential	IBA
GO:0099530	Function	G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential	IDA	27276689
GO:0099530	Function	G protein-coupled receptor activity involved in regulation of postsynaptic membrane potential	IEA
GO:0099538	Process	Synaptic signaling via neuropeptide	IDA	27276689
GO:0099538	Process	Synaptic signaling via neuropeptide	IEA
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

Other IDs

• MIM: 604473
• HGNC: 4593
• e!Ensembl: ENSG00000152822

Protein

• UniProt ID: Q13255
• Protein name: Metabotropic glutamate receptor 1 (mGluR1)
• 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: 3KS9, 4OR2, 7DGD, 7DGE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01094	ANF_receptor	77 → 488	Receptor family ligand binding region	Family
  PF07562	NCD3G	520 → 571	Nine Cysteines Domain of family 3 GPCR	Family
  PF00003	7tm_3	604 → 837	7 transmembrane sweet-taste receptor of 3 GCPR	Family
  PF10606	GluR_Homer-bdg	1144 → 1194	Homer-binding domain of metabotropic glutamate receptor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain. {ECO:0000269|PubMed:9076744}.
• Sequence:

  MVGLLLFFFPAIFLEVSLLPRSPGRKVLLAGASSQRSVARMDGDVIIGALFSVHHQPPAE
  KVPERKCGEIREQYGIQRVEAMFHTLDKINADPVLLPNITLGSEIRDSCWHSSVALEQSI
  EFIRDSLISIRDEKDGINRCLPDGQSLPPGRTKKPIAGVIGPGSSSVAIQVQNLLQLFDI
  PQIAYSATSIDLSDKTLYKYFLRVVPSDTLQARAMLDIVKRYNWTYVSAVHTEGNYGESG
  MDAFKELAAQEGLCIAHSDKIYSNAGEKSFDRLLRKLRERLPKARVVVCFCEGMTVRGLL
  SAMRRLGVVGEFSLIGSDGWADRDEVIEGYEVEANGGITIKLQSPEVRSFDDYFLKLRLD
  TNTRNPWFPEFWQHRFQCRLPGHLLENPNFKRICTGNESLEENYVQDSKMGFVINAIYAM
  AHGLQNMHHALCPGHVGLCDAMKPIDGSKLLDFLIKSSFIGVSGEEVWFDEKGDAPGRYD
  IMNLQYTEANRYDYVHVGTWHEGVLNIDDYKIQMNKSGVVRSVCSEPCLKGQIKVIRKGE
  VSCCWICTACKENEYVQDEFTCKACDLGWWPNADLTGCEPIPVRYLEWSNIESIIAIAFS
  CLGILVTLFVTLIFVLYRDTPVVKSSSRELCYIILAGIFLGYVCPFTLIAKPTTTSCYLQ
  RLLVGLSSAMCYSALVTKTNRIARILAGSKKKICTRKPRFMSAWAQVIIASILISVQLTL
  VVTLIIMEPPMPILSYPSIKEVYLICNTSNLGVVAPLGYNGLLIMSCTYYAFKTRNVPAN
  FNEAKYIAFTMYTTCIIWLAFVPIYFGSNYKIITTCFAVSLSVTVALGCMFTPKMYIIIA
  KPERNVRSAFTTSDVVRMHVGDGKLPCRSNTFLNIFRRKKAGAGNANSNGKSVSWSEPGG
  GQVPKGQHMWHRLSVHVKTNETACNQTAVIKPLTKSYQGSGKSLTFSDTSTKTLYNVEEE
  EDAQPIRFSPPGSPSMVVHRRVPSAATTPPLPSHLTAEETPLFLAEPALPKGLPPPLQQQ
  QQPPPQQKSLMDQLQGVVSNFSTAIPDFHAVLAGPGGPGNGLRSLYPPPPPPQHLQMLPL
  QLSTFGEELVSPPADDDDDSERFKLLQEYVYEHEREGNTEEDELEEEEEDLQAASKLTPD
  DSPALTPPSPFRDSVASGSSVPSSPVSESVLCTPPNVSYASVILRDYKQSSSTL

• Sequence length: 1194

Pathways

KEGG:

Calcium signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
Neuroactive ligand-receptor interaction
Gap junction
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Long-term depression
Taste transduction
Estrogen signaling pathway
Spinocerebellar ataxia
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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive spinocerebellar ataxia 13	Pathogenic; Likely pathogenic	rs2483930312, rs774214806, rs758809498, rs988699004	RCV003314345 RCV000768403 RCV001009623 RCV001265623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia	Pathogenic	rs2484001104	RCV003159088	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs774214806	RCV001255402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia 44	Likely pathogenic; Pathogenic	rs1554308513, rs1554274719, rs1554317158	RCV000507901 RCV000506447 RCV000507391	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDROMYXOID FIBROMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, TEMPORAL LOBE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRM1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 44	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
Adenocarcinoma	Adenocarcinoma	BEFREE	27132814		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28306571		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	11535235, 26896755, 28645622, 29493465, 31102766		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	LHGDN	15330338		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22306551		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	22901947, 28886343	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	26308914, 28886343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxias, Hereditary	Ataxia	BEFREE	22901947		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	22138692		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	22138692, 24985920, 34233526	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	22138692		★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	24404125		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30868621, 31406134		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	BEFREE	29054881		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	29970986		★☆☆☆☆ Found in Text Mining only
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	Congenital Cerebellar Ataxia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	19853022		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	21559497, 28751646	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28800512		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21681448, 23922822, 24404125, 24633367, 25859923, 27146584, 28591718		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23922822, 28591718, 33339858	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23085756		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	28886343, 36675067	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	25057192, 28306571, 31319223		★☆☆☆☆ Found in Text Mining only
Chondromyxoid fibroma	Chondromyxoid Fibroma	BEFREE	24658000, 30582658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondromyxoid fibroma	Chondromyxoid Fibroma	ORPHANET_DG	24658000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondromyxoid fibroma	Chondromyxoid Fibroma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26758830, 29097780		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	15058486, 17446080		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	26308914	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	BEFREE	22901947		★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23085756		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	30367527		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	22520513		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	11642544, 17270300, 21962378, 23045678, 24270186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Gestational	Gestational diabetes	Pubtator	40298873	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	30124166		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28306571		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11051119	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	19853022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	26780454, 27501957, 28840260, 30607810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Benign Psychomotor, Childhood	Epilepsy	CTD_human_DG	15694259		★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	19853022		★☆☆☆☆ Found in Text Mining only
Epilepsy, Lateral Temporal	Epilepsy	CTD_human_DG	15694259		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	10744030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	11951051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	CTD_human_DG	15694259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33357046	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	24565507		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	31710636		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	CTD_human_DG	24658000		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	CTD_human_DG	24658000		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	20643379, 23396537		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28212543		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28212543, 30054311		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	15058486, 17446080		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	LHGDN	18059092		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29847346		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28306571		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	22741533	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25859923		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26308914, 28886343, 31319223		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	26308914, 28886343, 36675067	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31670972		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	15605986	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	28500623		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29525720		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21681448, 23922822, 24404125, 24633367, 25859923, 27146584, 28591718		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30008887		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25062106, 29493465		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23303475, 24633367, 29568366, 29844833		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23922822, 25859923		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12704387, 17332361		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15322701, 16305822, 16720295, 17332361, 17609672, 19458050, 22273393, 22771868, 22798429, 22882420, 23077590, 23085756, 23913827, 25859923, 26291396, 26896755, 29464040, 29493465, 31172672, 31451486, 31591386		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19458050, 20505744, 22771868, 24330389, 29453787	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	11642544, 17270300, 21962378, 23045678, 24270186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metastatic melanoma	Metastatic Melanoma	BEFREE	26291396		★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	22138692		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	27501957		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18619983		★☆☆☆☆ Found in Text Mining only
Myxofibroma	Myxofibroma	CTD_human_DG	24658000		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16305822, 19458050, 19843246, 22771868, 23085756, 26896755, 27132814, 28212543, 28840260, 29464040, 30375476, 31591386		★☆☆☆☆ Found in Text Mining only
Neoplasms, Bone Tissue	Neoplasms of Bone Tissue	CTD_human_DG	24658000		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26780454		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23620748		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	23620748	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	24565507		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	31599924		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	15058486, 17446080		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27132814		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	23922822		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24399291		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24399291	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29844833, 30008887		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	15058486, 17446080		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25062106, 29493465		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23072969, 25062106	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35086953	Stimulate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23085756		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29253887		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	25299066	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	15945063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	21559497	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	22448230, 26780454, 28696429, 30116027, 30890967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	22448230, 25137254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 13	Spinocerebellar ataxia	Pubtator	36140834	Associate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 44	Spinocerebellar Ataxia	UNIPROT_DG	28886343		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPINOCEREBELLAR ATAXIA 44	Spinocerebellar Ataxia	BEFREE	30367527		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPINOCEREBELLAR ATAXIA 44	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPINOCEREBELLAR ATAXIA 44	Spinocerebellar Ataxia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	27440721		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	25902068, 28518055		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13	Spinocerebellar Ataxia	UNIPROT_DG	22901947, 26308914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13	Spinocerebellar Ataxia	ORPHANET_DG	22901947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	22901947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13	Spinocerebellar Ataxia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	26308914, 28886343, 30367527, 36675067	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	CTD_human_DG	15058486, 17446080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	15058486, 17446080		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29258835, 30339347, 31833035		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24404125, 27146584, 30375476		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33339858	Associate	★☆☆☆☆ Found in Text Mining only
Uncinate Epilepsy	Epilepsy	CTD_human_DG	15694259		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	21962378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	21962378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicosity	Vulval varices	BEFREE	28902684		★☆☆☆☆ Found in Text Mining only