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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9568
Gene name	Gamma-aminobutyric acid type B receptor subunit 2
Gene symbol	GABBR2
Synonyms (NCBI Gene)	DEE59EIEE59GABABR2GPR51GPRC3BHG20HRIHFB2099NDPLHS
Chromosome	9
Chromosome location	9q22.33
Summary	The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the re

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2184026	C>G,T	Risk-factor	Genic upstream transcript variant, intron variant
rs2491397	C>T	Risk-factor	Intron variant
rs3750344	T>C,G	Risk-factor	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs922847767	C>T	Pathogenic	Missense variant, coding sequence variant
rs1554689313	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554689315	A>T	Pathogenic	Coding sequence variant, missense variant
rs1554689319	C>A	Pathogenic	Coding sequence variant, missense variant
rs1554689320	C>A	Pathogenic	Coding sequence variant, missense variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022745	hsa-miR-124-3p	Microarray	18668037
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT613027	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	27418678
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	27418678
MIRT613025	hsa-miR-507	HITS-CLIP	27418678
MIRT613025	hsa-miR-507	HITS-CLIP	27418678
MIRT613024	hsa-miR-557	HITS-CLIP	27418678
MIRT613024	hsa-miR-557	HITS-CLIP	27418678
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT613027	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT613026	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT613025	hsa-miR-507	HITS-CLIP	23824327
MIRT613024	hsa-miR-557	HITS-CLIP	23824327
MIRT613023	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT1009515	hsa-miR-1825	CLIP-seq
MIRT1009516	hsa-miR-1915	CLIP-seq
MIRT1009517	hsa-miR-1972	CLIP-seq
MIRT1009518	hsa-miR-3120-5p	CLIP-seq
MIRT1009519	hsa-miR-345	CLIP-seq
MIRT1009520	hsa-miR-3926	CLIP-seq
MIRT1009521	hsa-miR-4726-3p	CLIP-seq
MIRT1009522	hsa-miR-541	CLIP-seq
MIRT1009523	hsa-miR-548s	CLIP-seq
MIRT1009524	hsa-miR-654-5p	CLIP-seq
MIRT1999113	hsa-miR-1207-5p	CLIP-seq
MIRT1999114	hsa-miR-1909	CLIP-seq
MIRT1999115	hsa-miR-224	CLIP-seq
MIRT1999116	hsa-miR-3202	CLIP-seq
MIRT1999117	hsa-miR-3661	CLIP-seq
MIRT1999118	hsa-miR-3973	CLIP-seq
MIRT1999119	hsa-miR-4533	CLIP-seq
MIRT1999120	hsa-miR-4652-5p	CLIP-seq
MIRT1999121	hsa-miR-4763-3p	CLIP-seq
MIRT1999122	hsa-miR-520g	CLIP-seq
MIRT1999123	hsa-miR-520h	CLIP-seq
MIRT1999124	hsa-miR-631	CLIP-seq
MIRT2232804	hsa-miR-1208	CLIP-seq
MIRT2232805	hsa-miR-1263	CLIP-seq
MIRT2232806	hsa-miR-147	CLIP-seq
MIRT1009515	hsa-miR-1825	CLIP-seq
MIRT1009516	hsa-miR-1915	CLIP-seq
MIRT1009517	hsa-miR-1972	CLIP-seq
MIRT2232807	hsa-miR-2110	CLIP-seq
MIRT2232808	hsa-miR-2113	CLIP-seq
MIRT1009518	hsa-miR-3120-5p	CLIP-seq
MIRT2232809	hsa-miR-3150a-3p	CLIP-seq
MIRT2232810	hsa-miR-3179	CLIP-seq
MIRT2232811	hsa-miR-3183	CLIP-seq
MIRT1999116	hsa-miR-3202	CLIP-seq
MIRT1009519	hsa-miR-345	CLIP-seq
MIRT2232812	hsa-miR-4260	CLIP-seq
MIRT2232813	hsa-miR-4271	CLIP-seq
MIRT2232814	hsa-miR-4420	CLIP-seq
MIRT2232815	hsa-miR-4468	CLIP-seq
MIRT2232816	hsa-miR-452	CLIP-seq
MIRT2232817	hsa-miR-4676-3p	CLIP-seq
MIRT2232818	hsa-miR-4723-3p	CLIP-seq
MIRT2232819	hsa-miR-4725-3p	CLIP-seq
MIRT1009521	hsa-miR-4726-3p	CLIP-seq
MIRT2232820	hsa-miR-4747-5p	CLIP-seq
MIRT2232821	hsa-miR-4753-3p	CLIP-seq
MIRT2232822	hsa-miR-4782-5p	CLIP-seq
MIRT2232823	hsa-miR-520d-5p	CLIP-seq
MIRT2232824	hsa-miR-524-5p	CLIP-seq
MIRT2232825	hsa-miR-9	CLIP-seq
MIRT2232826	hsa-miR-939	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	IDA	9872316
GO:0004965	Function	G protein-coupled GABA receptor activity	IEA
GO:0004965	Function	G protein-coupled GABA receptor activity	TAS	10328880
GO:0005515	Function	Protein binding	IPI	16724110, 24305054, 24658140, 32555460, 32580208, 32581365, 37207277
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA	9872316, 15304491
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10328880
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	TAS	9872316
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	987231
GO:0007194	Process	Negative regulation of adenylate cyclase activity	TAS	10328880
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	987231, 9872316
GO:0007268	Process	Chemical synaptic transmission	TAS	9872316
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	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:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	15304491
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	987231
GO:0150099	Process	Neuron-glial cell signaling	ISS
GO:1902710	Component	GABA receptor complex	IDA	15304491
GO:1902712	Component	G protein-coupled GABA receptor complex	IPI	24305054

MIM	HGNC	e!Ensembl
607340	4507	ENSG00000136928

O75899

Protein name

Gamma-aminobutyric acid type B receptor subunit 2 (GABA-B receptor 2) (GABA-B-R2) (GABA-BR2) (GABABR2) (Gb2) (G-protein coupled receptor 51) (HG20)

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:9872316, PubMed:9872744). Within the heterodimeric GABA receptor, only GABB

PDB

4F11 , 4F12 , 4MQE , 4MQF , 4MR7 , 4MR8 , 4MR9 , 4MRM , 4MS1 , 4MS3 , 4MS4 , 4PAS , 6M8R , 6OCP , 6UO8 , 6UO9 , 6UOA , 6VJM , 6W2X , 6WIV , 7C7Q , 7C7S , 7CA3 , 7CA5 , 7CUM , 7EB2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	76 → 435	Receptor family ligand binding region	Family
PF00003	7tm_3	493 → 746	7 transmembrane sweet-taste receptor of 3 GCPR	Family
PF18455	GBR2_CC	779 → 817	Gamma-aminobutyric acid type B receptor subunit 2 coiled-coil domain	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, especially in cerebral cortex, thalamus, hippocampus, frontal, occipital and temporal lobe, occipital pole and cerebellum, followed by corpus callosum, caudate nucleus, spinal cord, amygdala and medulla (PubM

Sequence

MASPRSSGQPGPPPPPPPPPARLLLLLLLPLLLPLAPGAWGWARGAPRPPPSSPPLSIMG
LMPLTKEVAKGSIGRGVLPAVELAIEQIRNESLLRPYFLDLRLYDTECDNAKGLKAFYDA
IKYGPNHLMVFGGVCPSVTSIIAESLQGWNLVQLSFAATTPVLADKKKYPYFFRTVPSDN
AVNPAILKLLKHYQWKRVGTLTQDVQRFSEVRNDLTGVLYGEDIEISDTESFSNDPCTSV
KKLKGNDVRIILGQFDQNMAAKVFCCAYEENMYGSKYQWIIPGWYEPSWWEQVHTEANSS
RCLRKNLLAAMEGYIGVDFEPLSSKQIKTISGKTPQQYEREYNNKRSGVGPSKFHGYAYD
GIWVIAKTLQRAMETLHASSRHQRIQDFNYTDHTLGRIILNAMNETNFFGVTGQVVFRNG
ERMGTIKFTQFQDSREVKVGEYNAVADTLEIINDTIRFQGSEPPKDKTIILEQLRKISLP
LYSILSALTILGMIMASAFLFFNIKNRNQKLIKMSSPYMNNLIILGGMLSYASIFLFGLD
GSFVSEKTFETLCTVRTWILTVGYTTAFGAMFAKTWRVHAIFKNVKMKKKIIKDQKLLVI
VGGMLLIDLCILICWQAVDPLRRTVEKYSMEPDPAGRDISIRPLLEHCENTHMTIWLGIV
YAYKGLLMLFGCFLAWETRNVSIPALNDSKYIGMSVYNVGIMCIIGAAVSFLTRDQPNVQ
FCIVALVIIFCSTITLCLVFVPKLITLRTNPDAATQNRRFQFTQNQKKEDSKTSTSVTSV
NQASTSRLEGLQSENHRLRMKITELDKDLEEVTMQLQDTPEKTTYIKQNHYQELNDILNL
GNFTESTDGGKAILKNHLDQNPQLQWNTTEPSRTCKDPIEDINSPEHIQRRLSLQLPILH
HAYLPSIGGVDASCVSPCVSPTASPRHRHVPPSFRVMVSGL

Sequence length

941

Interactions

View interactions

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

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy, 59	Likely pathogenic; Pathogenic	rs1554689319, rs2491207996, rs1564157745, rs1554689320, rs1554689315, rs1554689313	RCV002254373 RCV003128222 RCV003153163 RCV000590835 RCV000590833 RCV000590834 RCV001729645 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Pathogenic; Likely pathogenic	rs2131462561, rs1485329117, rs1554689320, rs1178244073	RCV001386468 RCV002300005 RCV003591755 RCV001061509	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1830549152	RCV001260768	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with poor language and loss of hand skills	Likely pathogenic; Pathogenic	rs1554689319, rs1449813941, rs1554689313, rs1827283362	RCV002254373 RCV002289255 RCV000590832 RCV003389254	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL RETT SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUODENITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABBR2-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROENTERITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rett syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETT SYNDROME, ATYPICAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tobacco addiction, susceptibility to	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (78)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28490462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33218044, 36776048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	35301427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	30664203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Rett syndrome	Rett Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	32807774, 34069769	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	19002745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	19002745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19002745	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21303731, 24022508	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	38482990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35045088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19381877	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37576707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	35045088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19002745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of lung	Congenital lung agenesis	BEFREE	30070715		★★★★★ ★☆☆☆☆ 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	26740508, 36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	36103875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36374051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	14625043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	14625043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	25262651, 28856709, 29377213		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	28856709		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31957018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59	Epileptic encephalopathy	UNIPROT_DG	28856709, 29100083, 29369404		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28856709		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25448630	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	33360824	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	Pubtator	25420197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	10087195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27033668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	37576707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38482990	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	24022508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	24022508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28490462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17559250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	Neurodevelopmental Disorder With Motor Impairment And Absent Language	UNIPROT_DG	26740508, 28856709, 29369404		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	Neurodevelopmental Disorder With Motor Impairment And Absent Language	GENOMICS_ENGLAND_DG	29377213		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	Neurodevelopmental Disorder With Motor Impairment And Absent Language	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26740508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31488892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23773523, 38482990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	26740508, 36103875	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rett Syndrome	Rett Syndrome	BEFREE	28856709		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rett Syndrome	Rett Syndrome	GENOMICS_ENGLAND_DG	28856709, 29377213		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rett Syndrome	Rett Syndrome	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rett Syndrome, Atypical	Rett Syndrome	ORPHANET_DG	28856709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30166627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	21303731, 24022508	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	24022508, 30341038		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 30285260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31176952	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	29379005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	19381877	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	24022508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	24022508		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37762034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31488892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)