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

474

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs869312861	RCV000210398
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 RCV002466328 RCV004767158 RCV001530184 RCV003984970 RCV006447255 RCV000708583 RCV002248768 RCV000577844 RCV000577859 RCV000577830 RCV000577849 RCV003388839 RCV001249575 RCV004799541 RCV001264841
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 RCV001911273 RCV002638593 RCV002832904 RCV002820950 RCV003049815 RCV003587390 RCV003749911 RCV000688521 RCV002526615 RCV005091048 RCV000545539 RCV003586193 RCV001861689 RCV000801828 RCV001307326
Seizure	Likely pathogenic; Pathogenic	rs2546555600, rs1554093891	RCV004547428 RCV004554805

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs866868103	RCV005916491
Cervical cancer	Benign	rs536229884	RCV005923273
Familial pancreatic carcinoma	Benign	rs10052441	RCV005896454
GABRB2-related disorder	Uncertain significance; Benign; Likely benign	rs41298406, rs140538607, rs145570974, rs2964779, rs146425610, rs1285127035, rs367813708	RCV003401768 RCV003959965 RCV003912683 RCV003902531 RCV003902562 RCV003962822 RCV003936200
GABRB2-related epileptic encephalopathy	Conflicting classifications of pathogenicity	rs772398405	RCV001563677
GABRB2-related neurodevelopmental disorders	Uncertain significance	rs2113263943	RCV001797031
Lymphoma	Benign	rs10052441	RCV005896455
Malignant tumor of urinary bladder	Benign	rs866868103, rs747388763	RCV005916492 RCV005918731
Nonpapillary renal cell carcinoma	Benign	rs10052441	RCV005896452
Ovarian cancer	Benign	rs10052441	RCV005896453
Prostate cancer	Uncertain significance	rs193920932	RCV000149288
Sarcoma	Benign	rs79159214	RCV005905427
See cases	Uncertain significance	rs193920932, rs1014388930	RCV002252005 RCV002252334
Thymoma	Benign	rs252958	RCV005924977
Uterine corpus endometrial carcinoma	Benign	rs252958	RCV005924978

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenocortical Carcinoma	Associate	33187258
Alcoholism	Associate	26561861
Astrocytoma	Associate	32647207
Bipolar Disorder	Associate	24901472, 26561861
Brain Diseases	Associate	32686847
Demyelinating Diseases	Associate	32686847
Developmental Disabilities	Associate	25124326
Epilepsies Myoclonic	Associate	32686847
Epilepsy	Associate	25124326, 32686847
Epileptic Encephalopathy Early Infantile 3	Associate	27789573
Fever	Associate	32686847
Glioblastoma	Associate	32647207
Glucose Galactose Malabsorption	Associate	24194939
Heroin Dependence	Associate	26561861
Infantile Epileptic Dyskinetic Encephalopathy	Associate	32686847
Intellectual Disability	Associate	25124326
Leukemia Lymphocytic Chronic B Cell	Associate	37629695
Mental Disorders	Associate	24901472
Neurologic Manifestations	Associate	25124326
Rett Syndrome	Associate	31344879
Schizophrenia	Associate	26561861, 29032150
Seizures	Associate	32686847
Seizures Febrile	Associate	32686847
Spasms Infantile	Associate	32686847
Thyroid Cancer Papillary	Associate	28469731, 37372430
Thyroid Neoplasms	Associate	37372430
Vision Disorders	Associate	26350515

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