Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2550
Gene name	Gamma-aminobutyric acid type B receptor subunit 1
Gene symbol	GABBR1
Synonyms (NCBI Gene)	GABABR1GABBR1-3GB1GPRC3ANEDLC
Chromosome	6
Chromosome location	6p22.1
Summary	This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie bra

121 Show/Hide all (121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017808	hsa-miR-335-5p	Microarray	18185580
MIRT017808	hsa-miR-335-5p	Microarray	18185580
MIRT029420	hsa-miR-26b-5p	Microarray	19088304
MIRT029420	hsa-miR-26b-5p	Microarray	19088304
MIRT440596	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440595	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440596	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727615	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727614	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727613	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727612	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440595	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT1009471	hsa-miR-1270	CLIP-seq
MIRT1009472	hsa-miR-1273f	CLIP-seq
MIRT1009473	hsa-miR-202	CLIP-seq
MIRT1009474	hsa-miR-3177-5p	CLIP-seq
MIRT1009475	hsa-miR-3200-5p	CLIP-seq
MIRT1009476	hsa-miR-4257	CLIP-seq
MIRT1009477	hsa-miR-4276	CLIP-seq
MIRT1009478	hsa-miR-4303	CLIP-seq
MIRT1009479	hsa-miR-4422	CLIP-seq
MIRT1009480	hsa-miR-4468	CLIP-seq
MIRT1009481	hsa-miR-4643	CLIP-seq
MIRT1009482	hsa-miR-466	CLIP-seq
MIRT1009483	hsa-miR-4666-5p	CLIP-seq
MIRT1009484	hsa-miR-4668-5p	CLIP-seq
MIRT1009485	hsa-miR-4681	CLIP-seq
MIRT1009486	hsa-miR-4683	CLIP-seq
MIRT1009487	hsa-miR-4690-3p	CLIP-seq
MIRT1009488	hsa-miR-4712-3p	CLIP-seq
MIRT1009489	hsa-miR-4722-5p	CLIP-seq
MIRT1009490	hsa-miR-4768-3p	CLIP-seq
MIRT1009491	hsa-miR-4789-3p	CLIP-seq
MIRT1009492	hsa-miR-620	CLIP-seq
MIRT1009493	hsa-miR-625	CLIP-seq
MIRT1009494	hsa-miR-1193	CLIP-seq
MIRT1009471	hsa-miR-1270	CLIP-seq
MIRT1009495	hsa-miR-134	CLIP-seq
MIRT1009496	hsa-miR-2278	CLIP-seq
MIRT1009497	hsa-miR-2467-3p	CLIP-seq
MIRT1009498	hsa-miR-3118	CLIP-seq
MIRT1009499	hsa-miR-3136-5p	CLIP-seq
MIRT1009500	hsa-miR-3164	CLIP-seq
MIRT1009474	hsa-miR-3177-5p	CLIP-seq
MIRT1009501	hsa-miR-3185	CLIP-seq
MIRT1009502	hsa-miR-3605-5p	CLIP-seq
MIRT1009503	hsa-miR-3607-5p	CLIP-seq
MIRT1009504	hsa-miR-3691-5p	CLIP-seq
MIRT1009505	hsa-miR-3911	CLIP-seq
MIRT1009477	hsa-miR-4276	CLIP-seq
MIRT1009479	hsa-miR-4422	CLIP-seq
MIRT1009506	hsa-miR-4428	CLIP-seq
MIRT1009507	hsa-miR-4439	CLIP-seq
MIRT1009508	hsa-miR-4455	CLIP-seq
MIRT1009480	hsa-miR-4468	CLIP-seq
MIRT1009509	hsa-miR-4501	CLIP-seq
MIRT1009510	hsa-miR-4513	CLIP-seq
MIRT1009481	hsa-miR-4643	CLIP-seq
MIRT1009482	hsa-miR-466	CLIP-seq
MIRT1009511	hsa-miR-4663	CLIP-seq
MIRT1009484	hsa-miR-4668-5p	CLIP-seq
MIRT1009485	hsa-miR-4681	CLIP-seq
MIRT1009486	hsa-miR-4683	CLIP-seq
MIRT1009489	hsa-miR-4722-5p	CLIP-seq
MIRT1009512	hsa-miR-4724-5p	CLIP-seq
MIRT1009513	hsa-miR-4752	CLIP-seq
MIRT1009514	hsa-miR-4758-3p	CLIP-seq
MIRT1009490	hsa-miR-4768-3p	CLIP-seq
MIRT1009491	hsa-miR-4789-3p	CLIP-seq
MIRT1009492	hsa-miR-620	CLIP-seq
MIRT2232801	hsa-miR-4660	CLIP-seq
MIRT2232802	hsa-miR-646	CLIP-seq
MIRT2232803	hsa-miR-671-5p	CLIP-seq
MIRT1009480	hsa-miR-4468	CLIP-seq
MIRT1009494	hsa-miR-1193	CLIP-seq
MIRT2536414	hsa-miR-1205	CLIP-seq
MIRT2536415	hsa-miR-1276	CLIP-seq
MIRT2536416	hsa-miR-1909	CLIP-seq
MIRT1009497	hsa-miR-2467-3p	CLIP-seq
MIRT2536417	hsa-miR-28-5p	CLIP-seq
MIRT2536418	hsa-miR-3139	CLIP-seq
MIRT2536419	hsa-miR-3147	CLIP-seq
MIRT2536420	hsa-miR-3170	CLIP-seq
MIRT2536421	hsa-miR-342-5p	CLIP-seq
MIRT1009504	hsa-miR-3691-5p	CLIP-seq
MIRT2536422	hsa-miR-3714	CLIP-seq
MIRT1009505	hsa-miR-3911	CLIP-seq
MIRT2536423	hsa-miR-3978	CLIP-seq
MIRT2536424	hsa-miR-4260	CLIP-seq
MIRT2536425	hsa-miR-4425	CLIP-seq
MIRT1009506	hsa-miR-4428	CLIP-seq
MIRT2536426	hsa-miR-4434	CLIP-seq
MIRT1009508	hsa-miR-4455	CLIP-seq
MIRT2536427	hsa-miR-4516	CLIP-seq
MIRT2536428	hsa-miR-4531	CLIP-seq
MIRT2536429	hsa-miR-4645-3p	CLIP-seq
MIRT2536430	hsa-miR-4651	CLIP-seq
MIRT2536431	hsa-miR-4664-5p	CLIP-seq
MIRT1009513	hsa-miR-4752	CLIP-seq
MIRT1009514	hsa-miR-4758-3p	CLIP-seq
MIRT2536432	hsa-miR-548an	CLIP-seq
MIRT2536433	hsa-miR-558	CLIP-seq
MIRT2536434	hsa-miR-608	CLIP-seq
MIRT2536435	hsa-miR-708	CLIP-seq
MIRT2536414	hsa-miR-1205	CLIP-seq
MIRT2536416	hsa-miR-1909	CLIP-seq
MIRT1009497	hsa-miR-2467-3p	CLIP-seq
MIRT2536417	hsa-miR-28-5p	CLIP-seq
MIRT2536418	hsa-miR-3139	CLIP-seq
MIRT2536420	hsa-miR-3170	CLIP-seq
MIRT2536421	hsa-miR-342-5p	CLIP-seq
MIRT2536422	hsa-miR-3714	CLIP-seq
MIRT2536423	hsa-miR-3978	CLIP-seq
MIRT2536424	hsa-miR-4260	CLIP-seq
MIRT1009506	hsa-miR-4428	CLIP-seq
MIRT2536430	hsa-miR-4651	CLIP-seq
MIRT2536431	hsa-miR-4664-5p	CLIP-seq
MIRT2536432	hsa-miR-548an	CLIP-seq
MIRT2536433	hsa-miR-558	CLIP-seq
MIRT2536434	hsa-miR-608	CLIP-seq
MIRT2536435	hsa-miR-708	CLIP-seq

71 Show/Hide all (71)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	IBA
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	9872316
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	10328880
GO:0004965	Function	G protein-coupled GABA receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	IMP	36103875
GO:0004965	Function	G protein-coupled GABA receptor activity	TAS	9069281
GO:0005515	Function	Protein binding	IPI	16724110, 17474147, 20195357, 24305054, 24658140, 28298427, 32555460, 32580208, 32581365
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IDA	9872316
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9753614
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	987231, 10328880
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	987231, 9872316
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	9069281
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0014048	Process	Regulation of glutamate secretion	IEA
GO:0014049	Process	Positive regulation of glutamate secretion	IEA
GO:0014053	Process	Negative regulation of gamma-aminobutyric acid secretion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030673	Component	Axolemma	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032811	Process	Negative regulation of epinephrine secretion	IEA
GO:0033602	Process	Negative regulation of dopamine secretion	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0038037	Component	G protein-coupled receptor dimeric complex	IEA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IBA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IEA
GO:0038039	Component	G protein-coupled receptor heterodimeric complex	IPI	9872316
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0050805	Process	Negative regulation of synaptic transmission	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	987231
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099579	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential	IEA
GO:0150047	Function	G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential	IEA
GO:0150099	Process	Neuron-glial cell signaling	IEA
GO:0150099	Process	Neuron-glial cell signaling	ISS
GO:1902710	Component	GABA receptor complex	IEA
GO:1902712	Component	G protein-coupled GABA receptor complex	IEA
GO:1902712	Component	G protein-coupled GABA receptor complex	IPI	24305054
GO:1990430	Function	Extracellular matrix protein binding	IEA

MIM	HGNC	e!Ensembl
603540	4070	ENSG00000204681

Q9UBS5

Protein name

Gamma-aminobutyric acid type B receptor subunit 1 (GABA-B receptor 1) (GABA-B-R1) (GABA-BR1) (GABABR1) (Gb1)

Protein function

Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2 (PubMed:15617512, PubMed:18165688, PubMed:22660477, PubMed:24305054, PubMed:36103875, PubMed:9872316, PubMed:9872744). Within the heterodimeric GABA re

PDB

4MQE , 4MQF , 4MR7 , 4MR8 , 4MR9 , 4MRM , 4MS1 , 4MS3 , 4MS4 , 4PAS , 6HKC , 6UO8 , 6UO9 , 6UOA , 6VJM , 6W2X , 6W2Y , 6WIV , 7C7Q , 7C7S , 7CA3 , 7CA5 , 7CUM , 7EB2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00003	7tm_3	603 → 859	7 transmembrane sweet-taste receptor of 3 GCPR	Family
PF00084	Sushi	101 → 157	Sushi repeat (SCR repeat)	Domain
PF01094	ANF_receptor	187 → 546	Receptor family ligand binding region	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain (PubMed:9753614, PubMed:9844003, PubMed:9872744). Weakly expressed in heart, small intestine and uterus. Isoform 1A: Mainly expressed in granular cell and molecular layer (PubMed:9844003). Isoform 1B: Mainly e

Sequence

MLLLLLLAPLFLRPPGAGGAQTPNATSEGCQIIHPPWEGGIRYRGLTRDQVKAINFLPVD
YEIEYVCRGEREVVGPKVRKCLANGSWTDMDTPSRCVRICSKSYLTLENGKVFLTGGDLP
ALDGARVDFRCDPDFHLVGSSRSICSQGQWSTPKPHCQVNRTPHSERRAVYIGALFPMSG
GWPGGQACQPAVEMALEDVNSRRDILPDYELKLIHHDSKCDPGQATKYLYELLYNDPIKI
ILMPGCSSVSTLVAEAARMWNLIVLSYGSSSPALSNRQRFPTFFRTHPSATLHNPTRVKL
FEKWGWKKIATIQQTTEVFTSTLDDLEERVKEAGIEITFRQSFFSDPAVPVKNLKRQDAR
IIVGLFYETEARKVFCEVYKERLFGKKYVWFLIGWYADNWFKIYDPSINCTVDEMTEAVE
GHITTEIVMLNPANTRSISNMTSQEFVEKLTKRLKRHPEETGGFQEAPLAYDAIWALALA
LNKTSGGGGRSGVRLEDFNYNNQTITDQIYRAMNSSSFEGVSGHVVFDASGSRMAWTLIE
QLQGGSYKKIGYYDSTKDDLSWSKTDKWIGGSPPADQTLVIKTFRFLSQKLFISVSVLSS
LGIVLAVVCLSFNIYNSHVRYIQNSQPNLNNLTAVGCSLALAAVFPLGLDGYHIGRNQFP
FVCQARLWLLGLGFSLGYGSMFTKIWWVHTVFTKKEEKKEWRKTLEPWKLYATVGLLVGM
DVLTLAIWQIVDPLHRTIETFAKEEPKEDIDVSILPQLEHCSSRKMNTWLGIFYGYKGLL
LLLGIFLAYETKSVSTEKINDHRAVGMAIYNVAVLCLITAPVTMILSSQQDAAFAFASLA
IVFSSYITLVVLFVPKMRRLITRGEWQSEAQDTMKTGSSTNNNEEEKSRLLEKENRELEK
IIAEKEERVSELRHQLQSRQQLRSRRHPPTPPEPSGGLPRGPPEPPDRLSCDGSRVHLLY
K

Sequence length

961

Interactions

View interactions

KEGG Pathway	Reactome Pathway
cAMP signaling pathway	Activation of G protein gated Potassium channels
Neuroactive ligand-receptor interaction	G alpha (i) signalling events
GABAergic synapse	Class C/3 (Metabotropic glutamate/pheromone receptors)
Taste transduction	GABA B receptor activation
Estrogen signaling pathway	Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
GnRH secretion
Morphine addiction

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (7)
Atypical behavior	Likely pathogenic	rs2483298866	RCV002468885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV002468885 RCV002468890 RCV002468891 RCV002468892	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV002468885 RCV002468890 RCV002468891 RCV002468892	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV002468885 RCV002468890 RCV002468891 RCV002468892	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Motor delay	Likely pathogenic	rs2483298866	RCV002468885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with language delay and variable cognitive abnormalities	Likely pathogenic	rs2483298866, rs2482987023, rs2483321372, rs2482764108	RCV003327569 RCV003327570 RCV003327571 RCV003327572	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurofibromatosis, type 1	Likely pathogenic	rs2483339912	RCV003228788	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (27)
ALZHEIMER DISEASE	—	GWAS catalog	35589863	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	30804558	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	16770606, 19002745	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	36103875	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	38182794	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	39620209	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	33106845	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	35915156	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABBR1-associated neurodevelopmental disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	16990508	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	38368726	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29662059, 29942085, 32231276, 33859377, 37985818, 41233554	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	29942085	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	29255261, 29942085	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	34290314	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	38637617	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	38757301, 39885523	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	30552173	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	38469033	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	38965376	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	38368726, 39620209	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	27922604	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	33272962	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	39046104	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (83)
22q11 Deletion Syndrome	22q11 deletion syndrome	BEFREE	20036641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acth-Independent Macronodular Adrenal Hyperplasia	Cushing`s Syndrome	BEFREE	20660048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	16800828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	10412185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	29026448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	28087732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	30552173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	29028941	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16770606, 19002745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	19002745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19002745, 36103875	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21303731, 24022508	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19664746	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	31554915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	31554915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	30804558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19002745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27230463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27230463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34131398	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	26699387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	10412185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	21303731, 24022508	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28087732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	11295833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	21756923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	24920620, 31791436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	10397362, 10402495, 15269338, 18463015, 19002745, 30590180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	15799783, 16278087, 16499773, 18255321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	11165375, 12601092, 14625043, 15799783, 15857448, 16278087, 16499773, 18255321, 18355961, 21621395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	12115687, 12601092, 14625043, 14643764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31957018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	20820800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	15799783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	39596090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33462083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	10402495, 9933300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	22761659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36103875	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10402495, 9933300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	24871463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24022508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059, 29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	19654303, 22899653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18098271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29980692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	19962348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19664746, 21283797, 28881764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	19664746, 21283797, 23209447, 25180181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145, 23209447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	21283797	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	15685626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18098271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18098271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	11324945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22480689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29980692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23773523, 29980692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	28041965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	12210273, 15820424, 17412563, 23391219, 24022508, 26450699		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17412563, 23391219		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	21303731, 24022508	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	27922604		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	28756462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	27509181, 32711518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	LHGDN	17264536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27509181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19962348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25242135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30419552		★★★★★ ★☆☆☆☆ Found in Text Mining only
succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	BEFREE	22722631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	24022508		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GABBR2	1	["Post-traumatic stress disorder"]	11	["cAMP signaling pathway","GABAergic synapse","Taste transduction","Estrogen signaling pathway","GnRH secretion","Morphine addiction","G alpha (i) signalling events","Activation of G protein gated Potassium channels","Inhibition of voltage gated Ca2+ channels via Gbeta\/gamma subunits","Class C\/3 (Metabotropic glutamate\/pheromone receptors)","GABA B receptor activation"]	3	["ClinVar (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)","GWAS catalog (Post-traumatic stress disorder)"]
GRM7	2	["Nonsyndromic intellectual disability","Psychiatric disorders"]	2	["G alpha (i) signalling events","Class C\/3 (Metabotropic glutamate\/pheromone receptors)"]	5	["Disgenet (Nonsyndromic intellectual disability)","Orphanet (Nonsyndromic intellectual disability)","ClinVar (Neurodevelopmental disorder)","HPO (Neurodevelopmental disorder)","GWAS catalog (Psychiatric disorders)"]
ADCY8	3	["Mood disorder","Hyperkinesia","Post-traumatic stress disorder"]	5	["cAMP signaling pathway","GABAergic synapse","Taste transduction","Estrogen signaling pathway","Morphine addiction"]	3	["Disgenet (Hyperkinesia)","CTD (Hyperkinesia)","GWAS catalog (Post-traumatic stress disorder)"]
GRIA1	3	["Nonsyndromic intellectual disability","Hyperkinesia","Post-traumatic stress disorder"]	1	["cAMP signaling pathway"]	5	["Disgenet (Nonsyndromic intellectual disability)","Orphanet (Nonsyndromic intellectual disability)","Disgenet (Hyperkinesia)","CTD (Hyperkinesia)","GWAS catalog (Post-traumatic stress disorder)"]
NCOA5	3	["Mood disorder","Post-traumatic stress disorder","Psychiatric disorders"]	0	[]	3	["GWAS catalog (Mood disorder)","GWAS catalog (Post-traumatic stress disorder)","GWAS catalog (Psychiatric disorders)"]

GABBR1 (gamma-aminobutyric acid type B receptor subunit 1)

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