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	2561
Gene name	Gamma-aminobutyric acid type A receptor subunit beta2
Gene symbol	GABRB2
Synonyms (NCBI Gene)	DEE92ICEE2
Chromosome	5
Chromosome location	5q34
Summary	The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 i

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs606231468	A>G	Pathogenic	Coding sequence variant, missense variant
rs869312861	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886039374	A>G	Pathogenic	Coding sequence variant, missense variant
rs886039375	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521979	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793133	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793551	A>G	Pathogenic	Missense variant, coding sequence variant
rs1064794996	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795444	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796901	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307993	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1131691875	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554093882	GA>TG	Likely-pathogenic	Coding sequence variant, missense variant
rs1554093884	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554093885	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554093889	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554093894	T>G	Pathogenic	Coding sequence variant, missense variant
rs1554094145	A>G	Pathogenic	Coding sequence variant, missense variant
rs1554094149	A>G	Pathogenic	Coding sequence variant, missense variant
rs1554094278	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1580984895	T>A	Likely-pathogenic	Missense variant, coding sequence variant

173

Show/Hide all (173)

miRTarBase ID	miRNA	Experiments	Reference
MIRT625558	hsa-miR-892a	HITS-CLIP	23824327
MIRT625557	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625556	hsa-miR-3659	HITS-CLIP	23824327
MIRT625555	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT625554	hsa-miR-3118	HITS-CLIP	23824327
MIRT625553	hsa-miR-3164	HITS-CLIP	23824327
MIRT625552	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT625551	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT625550	hsa-miR-943	HITS-CLIP	23824327
MIRT625549	hsa-miR-1238-5p	HITS-CLIP	23824327
MIRT625548	hsa-miR-4758-5p	HITS-CLIP	23824327
MIRT625547	hsa-miR-4658	HITS-CLIP	23824327
MIRT625546	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT625545	hsa-miR-6818-5p	HITS-CLIP	23824327
MIRT625544	hsa-miR-8081	HITS-CLIP	23824327
MIRT623867	hsa-miR-382-3p	HITS-CLIP	23824327
MIRT623866	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623865	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT623864	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT623863	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT623862	hsa-miR-765	HITS-CLIP	23824327
MIRT623861	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT623860	hsa-miR-4443	HITS-CLIP	23824327
MIRT623859	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT623858	hsa-miR-374a-3p	HITS-CLIP	23824327
MIRT623857	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT441685	hsa-miR-5197-5p	PAR-CLIP	22100165
MIRT441684	hsa-miR-8063	PAR-CLIP	22100165
MIRT441683	hsa-miR-4698	PAR-CLIP	22100165
MIRT441682	hsa-miR-3926	PAR-CLIP	22100165
MIRT441681	hsa-miR-548s	PAR-CLIP	22100165
MIRT625549	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT625549	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT625549	hsa-miR-1238-5p	HITS-CLIP	27418678
MIRT625555	hsa-miR-134-5p	HITS-CLIP	27418678
MIRT625555	hsa-miR-134-5p	HITS-CLIP	27418678
MIRT625555	hsa-miR-134-5p	HITS-CLIP	27418678
MIRT625554	hsa-miR-3118	HITS-CLIP	27418678
MIRT625554	hsa-miR-3118	HITS-CLIP	27418678
MIRT625554	hsa-miR-3118	HITS-CLIP	27418678
MIRT625553	hsa-miR-3164	HITS-CLIP	27418678
MIRT625553	hsa-miR-3164	HITS-CLIP	27418678
MIRT625553	hsa-miR-3164	HITS-CLIP	27418678
MIRT625556	hsa-miR-3659	HITS-CLIP	27418678
MIRT625556	hsa-miR-3659	HITS-CLIP	27418678
MIRT625556	hsa-miR-3659	HITS-CLIP	27418678
MIRT625547	hsa-miR-4658	HITS-CLIP	27418678
MIRT625547	hsa-miR-4658	HITS-CLIP	27418678
MIRT625547	hsa-miR-4658	HITS-CLIP	27418678
MIRT625548	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT625548	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT625548	hsa-miR-4758-5p	HITS-CLIP	27418678
MIRT625557	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT625557	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT625557	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT625546	hsa-miR-6790-5p	HITS-CLIP	27418678
MIRT625546	hsa-miR-6790-5p	HITS-CLIP	27418678
MIRT625546	hsa-miR-6790-5p	HITS-CLIP	27418678
MIRT625545	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT625545	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT625545	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT625552	hsa-miR-6820-3p	HITS-CLIP	27418678
MIRT625552	hsa-miR-6820-3p	HITS-CLIP	27418678
MIRT625552	hsa-miR-6820-3p	HITS-CLIP	27418678
MIRT625551	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT625551	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT625551	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT625544	hsa-miR-8081	HITS-CLIP	27418678
MIRT625544	hsa-miR-8081	HITS-CLIP	27418678
MIRT625558	hsa-miR-892a	HITS-CLIP	27418678
MIRT625558	hsa-miR-892a	HITS-CLIP	27418678
MIRT625558	hsa-miR-892a	HITS-CLIP	27418678
MIRT625550	hsa-miR-943	HITS-CLIP	27418678
MIRT625550	hsa-miR-943	HITS-CLIP	27418678
MIRT625550	hsa-miR-943	HITS-CLIP	27418678
MIRT625558	hsa-miR-892a	HITS-CLIP	23824327
MIRT625557	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625556	hsa-miR-3659	HITS-CLIP	23824327
MIRT625555	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT625554	hsa-miR-3118	HITS-CLIP	23824327
MIRT625553	hsa-miR-3164	HITS-CLIP	23824327
MIRT625552	hsa-miR-6820-3p	HITS-CLIP	23824327
MIRT625551	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT625550	hsa-miR-943	HITS-CLIP	23824327
MIRT625549	hsa-miR-1238-5p	HITS-CLIP	23824327
MIRT625548	hsa-miR-4758-5p	HITS-CLIP	23824327
MIRT625547	hsa-miR-4658	HITS-CLIP	23824327
MIRT625546	hsa-miR-6790-5p	HITS-CLIP	23824327
MIRT625545	hsa-miR-6818-5p	HITS-CLIP	23824327
MIRT625544	hsa-miR-8081	HITS-CLIP	23824327
MIRT623867	hsa-miR-382-3p	HITS-CLIP	23824327
MIRT623866	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT623865	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT623864	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT623863	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT623862	hsa-miR-765	HITS-CLIP	23824327
MIRT623861	hsa-miR-6894-5p	HITS-CLIP	23824327
MIRT623860	hsa-miR-4443	HITS-CLIP	23824327
MIRT623859	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT623858	hsa-miR-374a-3p	HITS-CLIP	23824327
MIRT623857	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT441685	hsa-miR-5197-5p	PAR-CLIP	22100165
MIRT441684	hsa-miR-8063	PAR-CLIP	22100165
MIRT441683	hsa-miR-4698	PAR-CLIP	22100165
MIRT441682	hsa-miR-3926	PAR-CLIP	22100165
MIRT441681	hsa-miR-548s	PAR-CLIP	22100165
MIRT1009923	hsa-miR-1262	CLIP-seq
MIRT1009924	hsa-miR-1264	CLIP-seq
MIRT1009925	hsa-miR-1273e	CLIP-seq
MIRT1009926	hsa-miR-183	CLIP-seq
MIRT1009927	hsa-miR-3668	CLIP-seq
MIRT1009928	hsa-miR-3688-3p	CLIP-seq
MIRT1009929	hsa-miR-3689a-5p	CLIP-seq
MIRT1009930	hsa-miR-3689b	CLIP-seq
MIRT1009931	hsa-miR-3689e	CLIP-seq
MIRT1009932	hsa-miR-3689f	CLIP-seq
MIRT1009933	hsa-miR-3935	CLIP-seq
MIRT1009934	hsa-miR-409-5p	CLIP-seq
MIRT1009935	hsa-miR-431	CLIP-seq
MIRT1009936	hsa-miR-4481	CLIP-seq
MIRT1009937	hsa-miR-4643	CLIP-seq
MIRT1009938	hsa-miR-466	CLIP-seq
MIRT1009939	hsa-miR-4666-5p	CLIP-seq
MIRT1009940	hsa-miR-4691-5p	CLIP-seq
MIRT1009941	hsa-miR-4694-3p	CLIP-seq
MIRT1009942	hsa-miR-4701-3p	CLIP-seq
MIRT1009943	hsa-miR-4745-5p	CLIP-seq
MIRT1009944	hsa-miR-4777-5p	CLIP-seq
MIRT1009945	hsa-miR-4789-3p	CLIP-seq
MIRT1009946	hsa-miR-4789-5p	CLIP-seq
MIRT1009947	hsa-miR-4792	CLIP-seq
MIRT1009948	hsa-miR-4793-5p	CLIP-seq
MIRT1009949	hsa-miR-548p	CLIP-seq
MIRT1009950	hsa-miR-601	CLIP-seq
MIRT1009951	hsa-miR-1224-5p	CLIP-seq
MIRT1009952	hsa-miR-1304	CLIP-seq
MIRT1009953	hsa-miR-2355-3p	CLIP-seq
MIRT1009954	hsa-miR-3150b-3p	CLIP-seq
MIRT1009955	hsa-miR-3915	CLIP-seq
MIRT1009956	hsa-miR-4418	CLIP-seq
MIRT1009957	hsa-miR-4488	CLIP-seq
MIRT1009958	hsa-miR-4646-3p	CLIP-seq
MIRT1009959	hsa-miR-4689	CLIP-seq
MIRT1009960	hsa-miR-4697-5p	CLIP-seq
MIRT1009961	hsa-miR-4719	CLIP-seq
MIRT1009962	hsa-miR-4731-5p	CLIP-seq
MIRT1009963	hsa-miR-4784	CLIP-seq
MIRT1009964	hsa-miR-509-3-5p	CLIP-seq
MIRT1009965	hsa-miR-509-5p	CLIP-seq
MIRT1009966	hsa-miR-513b	CLIP-seq
MIRT1009967	hsa-miR-582-3p	CLIP-seq
MIRT1009968	hsa-miR-633	CLIP-seq
MIRT1009969	hsa-miR-637	CLIP-seq
MIRT1999166	hsa-miR-134	CLIP-seq
MIRT1999167	hsa-miR-297	CLIP-seq
MIRT1999168	hsa-miR-3924	CLIP-seq
MIRT1999169	hsa-miR-4272	CLIP-seq
MIRT1999170	hsa-miR-4477b	CLIP-seq
MIRT1999171	hsa-miR-4705	CLIP-seq
MIRT1999172	hsa-miR-567	CLIP-seq
MIRT2232860	hsa-miR-499-3p	CLIP-seq
MIRT2232861	hsa-miR-499a-3p	CLIP-seq
MIRT2232862	hsa-miR-659	CLIP-seq
MIRT1009925	hsa-miR-1273e	CLIP-seq
MIRT2536459	hsa-miR-3140-3p	CLIP-seq
MIRT2536460	hsa-miR-3160-5p	CLIP-seq
MIRT2536461	hsa-miR-4327	CLIP-seq
MIRT2536462	hsa-miR-578	CLIP-seq
MIRT1009925	hsa-miR-1273e	CLIP-seq
MIRT2536459	hsa-miR-3140-3p	CLIP-seq
MIRT2536460	hsa-miR-3160-5p	CLIP-seq
MIRT2536461	hsa-miR-4327	CLIP-seq
MIRT2536462	hsa-miR-578	CLIP-seq

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IBA
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0004890	Function	GABA-A receptor activity	TAS	8264558
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	ISS
GO:0005886	Component	Plasma membrane	IDA	27789573
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8264558
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	29950725
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IMP	27789573
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	NAS	28528665
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	8264558
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	8264558
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	IMP	27789573
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	23909897
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	9464994
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048666	Process	Neuron development	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	ISS
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	29950725, 35355020
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060384	Process	Innervation	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071420	Process	Cellular response to histamine	ISS
GO:0090102	Process	Cochlea development	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:0099634	Component	Postsynaptic specialization membrane	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	29950725
GO:1902476	Process	Chloride transmembrane transport	ISS
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IPI	29950725
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904862	Process	Inhibitory synapse assembly	IDA	23909897, 25489750
GO:1904862	Process	Inhibitory synapse assembly	IEA

MIM	HGNC	e!Ensembl
600232	4082	ENSG00000145864

P47870

Protein name

Gamma-aminobutyric acid receptor subunit beta-2 (GABA(A) receptor subunit beta-2) (GABAAR subunit beta-2)

Protein function

Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:19763268, PubMed:27789573, PubMed:29950725, PubMed:8264558). GABA-gated chloride

PDB

6D6T , 6D6U , 6X3S , 6X3T , 6X3U , 6X3V , 6X3W , 6X3X , 6X3Z , 6X40 , 7T0W , 7T0Z , 8DD2 , 8DD3 , 8SGO , 8SI9 , 8SID , 8VQY , 8VRN , 9CRS , 9CRV , 9CSB , 9CT0 , 9CTJ , 9CTP , 9CTV , 9CXA , 9CXB , 9CXC , 9CXD , 9DRX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	36 → 242	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	249 → 507	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 2 show reduced expression in schizophrenic brain. Isoform 3 shows increased expression in schizophrenic and bipolar disorder brains while isoform 4 shows reduced expression. {ECO:0000269|PubMed:16983389, ECO:00002

Sequence

MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPV
AVGMNIDIASIDMVSEVNMDYTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDT
YFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIES
YGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR
NIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIP
YVKAIDMYLMGCFVFVFMALLEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKI
FYKDIKQNGTQYRSLWDPTGNLSPTRRTTNYDFSLYTMDPHENILLSTLEIKNEMATSEA
VMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPD
LTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN

Sequence length

512

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse GABAergic synapse Morphine addiction Nicotine addiction		GABA receptor activation

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
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs869312861	RCV000210398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 92	Likely pathogenic; Pathogenic	rs1064794996, rs2113408165, rs869312861, rs1753824585, rs606231468, rs2546555591, rs886039375, rs2480000318, rs1085307993, rs1554093891, rs1554093894, rs1554093885, rs1554094149, rs1554094145, rs1554093884, rs1580984895, rs1753821661 View all (2 more)	RCV004798911 RCV001808176 RCV001823313 RCV001842256 RCV000148947 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs2113405030, rs1064794996, rs1580984866, rs2113408096, rs2113397784, rs2113397640, rs2479999946, rs2546555613, rs2480166608, rs1210815997, rs2546558218, rs1064795444, rs1131691875, rs1554093891, rs1554094145 View all (3 more)	RCV001366931 RCV001390027 RCV005094744 RCV001997898 RCV002035695 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2546555600, rs1554093891	RCV004547428 RCV004554805	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRB2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRB2-related epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRB2-related neurodevelopmental disorders	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNOVIUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (71)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33187258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32647207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	20166940		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19909288		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19909288		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	24901472, 26561861	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	19763268, 22206711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	32686847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	19763268, 22206711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	32686847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25124326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	32686847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21420396, 24061200, 25124326, 29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	25124326, 32686847	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	LHGDN	14503638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	27789573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	25124326, 27789573		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	Epileptic encephalopathy	UNIPROT_DG	25124326, 27789573, 29100083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30546007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32647207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	25194483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25124326		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	25124326	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27789573		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	25194483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	24901472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29747637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	22357337		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	22357337		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	28063323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25124326, 29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	19909288, 23638040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25867809, 28859983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	30546007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	19763268, 19909288, 22206711, 23638040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	31344879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	14699426, 15993854, 16023997, 16472798, 16950232, 16983389, 17167345, 17412563, 17520021, 18715757, 19763268, 19909288, 20166940, 20221451, 20404824 View all (6 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	14699426, 16472798, 16950232, 17412563		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18583979		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	26561861, 29032150	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	32686847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	32686847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	32686847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28469731, 37372430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37372430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	25194483		★★★★★ ★☆☆☆☆ Found in Text Mining only

GABRB2 (gamma-aminobutyric acid type A receptor subunit beta2)