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	2566
Gene name	Gamma-aminobutyric acid type A receptor subunit gamma2
Gene symbol	GABRG2
Synonyms (NCBI Gene)	CAE2DEE74ECA2EIEE74FEB8GEFSP3
Chromosome	5
Chromosome location	5q34
Summary	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of p

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115126975	T>C	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121909672	A>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121909673	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs121909674	C>T	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs150727562	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, synonymous variant
rs267606837	C>G	Pathogenic	Missense variant, coding sequence variant
rs397514737	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs398123523	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs587780948	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs750459631	T>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant
rs781498456	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs796052503	C>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs796052504	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs796052505	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs796052507	G>A	Pathogenic	Intron variant, splice acceptor variant
rs796052508	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052509	T>G	Pathogenic	Coding sequence variant, missense variant
rs796052511	C>A,G	Likely-pathogenic, uncertain-significance, not-provided	Coding sequence variant, intron variant, missense variant
rs796052515	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs796052518	T>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs868452487	A>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs878854144	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1045493304	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057520476	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057520498	C>T	Likely-pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs1060501888	G>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1060501889	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1064794724	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant
rs1469287853	G>C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1554097873	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554097890	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554098222	CTGTT>-	Pathogenic	Coding sequence variant, stop gained
rs1554098226	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554098235	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554100509	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554100923	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1554101185	A>G	Likely-pathogenic	Splice acceptor variant
rs1554101202	AA>-	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1561645243	T>G	Pathogenic	Splice donor variant
rs1561662283	G>T	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs1581351046	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1581453822	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

131

Show/Hide all (131)

miRTarBase ID	miRNA	Experiments	Reference
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619554	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT619553	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT619552	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT619551	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT619550	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT619549	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619548	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619547	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT619546	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT619545	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619544	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619543	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619542	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619554	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT619553	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT619552	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT619551	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT619550	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT619549	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619548	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619547	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT619546	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT619545	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619544	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619543	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619542	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT1010108	hsa-miR-1265	CLIP-seq
MIRT1010109	hsa-miR-1323	CLIP-seq
MIRT1010110	hsa-miR-136	CLIP-seq
MIRT1010111	hsa-miR-142-3p	CLIP-seq
MIRT1010112	hsa-miR-2392	CLIP-seq
MIRT1010113	hsa-miR-3647-3p	CLIP-seq
MIRT1010114	hsa-miR-3657	CLIP-seq
MIRT1010115	hsa-miR-3682-3p	CLIP-seq
MIRT1010116	hsa-miR-376c	CLIP-seq
MIRT1010117	hsa-miR-380	CLIP-seq
MIRT1010118	hsa-miR-3942-3p	CLIP-seq
MIRT1010119	hsa-miR-548o	CLIP-seq
MIRT1010120	hsa-miR-606	CLIP-seq
MIRT1010121	hsa-miR-885-5p	CLIP-seq
MIRT1010111	hsa-miR-142-3p	CLIP-seq
MIRT1010114	hsa-miR-3657	CLIP-seq
MIRT1010122	hsa-miR-425	CLIP-seq
MIRT1010123	hsa-miR-4661-5p	CLIP-seq
MIRT1010121	hsa-miR-885-5p	CLIP-seq
MIRT1010124	hsa-miR-944	CLIP-seq
MIRT1999190	hsa-miR-1179	CLIP-seq
MIRT1999191	hsa-miR-127-5p	CLIP-seq
MIRT1999192	hsa-miR-1294	CLIP-seq
MIRT1999193	hsa-miR-3607-5p	CLIP-seq
MIRT1999194	hsa-miR-3616-3p	CLIP-seq
MIRT1999195	hsa-miR-4316	CLIP-seq
MIRT1999196	hsa-miR-4635	CLIP-seq
MIRT1999197	hsa-miR-4721	CLIP-seq
MIRT1999198	hsa-miR-4461	CLIP-seq
MIRT1999190	hsa-miR-1179	CLIP-seq
MIRT2232874	hsa-miR-1243	CLIP-seq
MIRT2232875	hsa-miR-1245b-3p	CLIP-seq
MIRT1999191	hsa-miR-127-5p	CLIP-seq
MIRT2232876	hsa-miR-3125	CLIP-seq
MIRT2232877	hsa-miR-3654	CLIP-seq
MIRT1010116	hsa-miR-376c	CLIP-seq
MIRT2232878	hsa-miR-3916	CLIP-seq
MIRT1010122	hsa-miR-425	CLIP-seq
MIRT2232879	hsa-miR-4528	CLIP-seq
MIRT1999196	hsa-miR-4635	CLIP-seq
MIRT2232880	hsa-miR-498	CLIP-seq
MIRT2232881	hsa-miR-656	CLIP-seq
MIRT2232882	hsa-miR-877	CLIP-seq

Show/Hide all (67)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IDA	14993607, 30602789
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
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:0005515	Function	Protein binding	IPI	9892355, 27733149, 28978485
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	2538761
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	29950725, 30602789
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	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	NAS	34417930
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	2538761
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0008503	Function	Benzodiazepine receptor activity	TAS	2538761
GO:0009791	Process	Post-embryonic development	IEA
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	23909897
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	2538761, 30602789
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032590	Component	Dendrite membrane	IBA
GO:0032590	Component	Dendrite membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	2538761
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	IDA	14993607
GO:0051932	Process	Synaptic transmission, GABAergic	ISS
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	29950725, 30602789
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0071420	Process	Cellular response to histamine	IEA
GO:0071420	Process	Cellular response to histamine	ISS
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	29950725, 30602789
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	ISS
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	IPI	29950725, 30602789
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	IBA
GO:1904862	Process	Inhibitory synapse assembly	IDA	23909897, 25489750
GO:1904862	Process	Inhibitory synapse assembly	IEA

MIM	HGNC	e!Ensembl
137164	4087	ENSG00000113327

P18507

Protein name

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

Protein function

Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:16412217, PubMed:23909897, PubMed:2538761, PubMed:25489750, Pu

PDB

6D6T , 6D6U , 6HUG , 6HUJ , 6HUK , 6HUO , 6HUP , 6I53 , 6X3S , 6X3T , 6X3U , 6X3V , 6X3W , 6X3X , 6X3Z , 6X40 , 7QNB , 7QNE , 7T0W , 7T0Z , 8DD2 , 8DD3 , 8SGO , 8SI9 , 8SID , 8VQY , 8VRN , 9CRS , 9CRV , 9CSB , 9CT0 , 9CTJ , 9CTP , 9CTV , 9CX7 , 9CXA , 9CXB , 9CXC , 9CXD , 9DRX , 9EQG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	66 → 272	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	279 → 423	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK
VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT
WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY
TLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQF
SFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFV
SNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC
FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL

Sequence length

467

Interactions

View interactions

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

1096

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nocturnal frontal lobe epilepsy	Likely pathogenic; Pathogenic	rs1765173859, rs1057520498	RCV001824554 RCV001824312
Developmental and epileptic encephalopathy, 74	Likely pathogenic; Pathogenic	rs1761617556, rs2532592745, rs2113298764, rs1761398393, rs796052505, rs796052508, rs796052510, rs2113598938, rs1057520498, rs1060501888, rs397514737, rs267606837	RCV001775345 RCV002289356 RCV005242251 RCV002466329 RCV000767869 RCV000767870 RCV003491934 RCV003388247 RCV005243225 RCV002272242 RCV001268930 RCV003142129
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2	Likely pathogenic; Pathogenic	rs1764624249, rs1760808499, rs2113298764, rs2113298770, rs2113370272, rs2113371247, rs2113326012, rs2113650735, rs1285618109, rs2113326854, rs2113309064, rs2113632484, rs2113599162, rs2113599212, rs2113632555 View all (58 more)	RCV001316148 RCV001346520 RCV001378060 RCV001378946 RCV001378001 RCV001377237 RCV001383477 RCV001389489 RCV001386557 RCV001999355 RCV002011654 RCV002013769 RCV002005740 RCV001953563 RCV002047455 RCV002026879 RCV002021504 RCV002638736 RCV005222815 RCV000547790 RCV001041149 RCV001249644 RCV000196679 RCV002007291 RCV002814569 RCV002801201 RCV002862252 RCV002843380 RCV002871716 RCV003016748 RCV003027838 RCV000227482 RCV003779867 RCV003781040 RCV003787803 RCV003807909 RCV003808215 RCV003806512 RCV003801566 RCV003804329 RCV003801336 RCV003794979 RCV003795216 RCV003809119 RCV003802277 RCV003813557 RCV003809388 RCV003801727 RCV003807442 RCV003810592 RCV000017592 RCV000017595 RCV000688627 RCV000462535 RCV000467084 RCV001379155 RCV001857985 RCV001858007 RCV000539557 RCV001854122 RCV000645382 RCV001855929 RCV000806748 RCV000817495 RCV000808359 RCV001057395 RCV001858879 RCV003101833 RCV001060789 RCV001040578 RCV001215572 RCV001217542 RCV001215295 RCV001203209 RCV001203057 RCV001205046 RCV001226027 RCV001236679
Febrile seizures, familial, 8	Likely pathogenic; Pathogenic	rs1764624249, rs1760808499, rs2113298764, rs2113298770, rs2113370272, rs2113371247, rs2113326012, rs2113650735, rs1285618109, rs2113326854, rs2113309064, rs2113632484, rs2113599162, rs2113599212, rs2113632555 View all (64 more)	RCV001316148 RCV001346520 RCV001378060 RCV001378946 RCV001378001 RCV001377237 RCV001383477 RCV001389489 RCV001386557 RCV001999355 RCV002011654 RCV002013769 RCV002005740 RCV001953563 RCV002047455 RCV002026879 RCV002021504 RCV002246159 RCV002250004 RCV005242251 RCV005861293 RCV002638736 RCV005222815 RCV000547790 RCV001041149 RCV001390804 RCV000196679 RCV002007291 RCV002814569 RCV002801201 RCV002862252 RCV002843380 RCV002871716 RCV003016748 RCV003027838 RCV000227482 RCV003779867 RCV003388858 RCV003781040 RCV003787803 RCV003807909 RCV003808215 RCV003806512 RCV003801566 RCV003804329 RCV003801336 RCV003794979 RCV003795216 RCV003809119 RCV003802277 RCV003813557 RCV003809388 RCV003801727 RCV003807442 RCV003810592 RCV000017591 RCV000017593 RCV000017594 RCV000017596 RCV000017597 RCV000688627 RCV000462535 RCV000467084 RCV001379155 RCV001857985 RCV001858007 RCV000539557 RCV000585838 RCV001854122 RCV000645382 RCV001855929 RCV000806748 RCV000817495 RCV000808359 RCV001057395 RCV001858879 RCV003101833 RCV001060789 RCV001040578 RCV001215572 RCV001217542 RCV001215295 RCV001203209 RCV001203057 RCV001205046 RCV001226027 RCV001236679
GABRG2-related disorder	Likely pathogenic	rs1285618109, rs796052511	RCV004540876 RCV000509275
Generalized epilepsy with febrile seizures plus 3	Likely pathogenic; Pathogenic	rs2113298764, rs1057520498, rs397514737	RCV005242251 RCV005243225 RCV000054505
Intellectual disability	Likely pathogenic; Pathogenic	rs796052510, rs543339576	RCV001260612 RCV001260613
Lennox-Gastaut syndrome	Pathogenic	rs796052504	RCV000844886
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs1554098235	RCV005899817
Seizure	Likely pathogenic; Pathogenic	rs1764624249, rs1554097873, rs1045493304	RCV005624480 RCV004546529 RCV006261986
Self-limited epilepsy with centrotemporal spikes	Likely pathogenic; Pathogenic	rs1554098235, rs397514737	RCV000655994 RCV000655995
Sudden unexplained death in childhood	Likely pathogenic	rs2113309482	RCV001787422

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	rs2113325423	RCV005626486
Epilepsy	Conflicting classifications of pathogenicity	rs753097258	RCV005355835
Esophageal atresia	Uncertain significance	rs1581342223	RCV000984648
Generalized epilepsy with febrile seizures plus	Benign; Conflicting classifications of pathogenicity	rs34705786, rs771282908	RCV000364948 RCV000398655 RCV000300426
Genetic developmental and epileptic encephalopathy	Uncertain significance	rs1254425203	RCV005622136
Pyloric stenosis	Uncertain significance	rs1581342223	RCV000984648
See cases	Uncertain significance	rs2113644476	RCV002252956
Severe myoclonic epilepsy in infancy	Conflicting classifications of pathogenicity	rs771282908	RCV000313505 RCV000334501

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	32400971
Aphasia Conduction	Associate	28460589
Atherosclerosis	Associate	38176934
Autism Spectrum Disorder	Associate	31004928, 35773312
Autistic Disorder	Associate	25124326
Brain Diseases	Associate	27762395, 27864268, 31004928
Cerebral Infarction	Associate	38176934
Cognition Disorders	Associate	32056912
Congenital Abnormalities	Associate	28460589
Death	Associate	26892569
Depressive Disorder	Associate	32056912
Depressive Disorder Major	Associate	26892569
Developmental Disabilities	Associate	33004838
Disease Resistance	Associate	20356767
Disruptive Impulse Control and Conduct Disorders	Associate	32056912
Drug Resistant Epilepsy	Associate	36425336
Epilepsies Myoclonic	Associate	12773292, 23069679, 27762395, 28460589, 36979350
Epilepsies Partial	Associate	31327507
Epilepsy	Associate	14738422, 23257655, 27622563, 27762395, 28460589, 28837158, 29894917, 31004928, 31327507, 35022648, 36425336, 36979350, 40570274, 40665309
Epilepsy Absence	Associate	21930603, 27762395, 29929832
Epilepsy Generalized	Associate	12773292, 31327507, 35032048
Epilepsy Idiopathic Generalized	Associate	14738422, 29894917, 34080406, 36425336
Epileptic Encephalopathy Early Infantile 3	Associate	36571524, 40570274
Epileptic Syndromes	Associate	23069679, 23287319, 27762395
Eye Infections	Associate	28460589
Fabry Disease	Associate	40233852
Fever	Associate	35022648
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	12060016, 14738422, 15827091, 23069679, 36979350
Glioblastoma	Associate	32647207
Hirschsprung Disease	Associate	27889765
Hyperhomocysteinemia	Associate	29062354
Intellectual Disability	Associate	28460589
Language Development Disorders	Associate	28460589
Mental Disorders	Associate	32056912
Movement Disorders	Associate	28460589
Muscle Hypotonia	Associate	28460589, 40570274
Myoclonic dystonia	Associate	35773312
Neglected Diseases	Associate	32056912
Neoplasms	Associate	40420762
Nervous System Diseases	Associate	25124326
Neurodegenerative Diseases	Associate	28837158, 31004928
Paraganglioma	Associate	40420762
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Rett Syndrome	Associate	31344879
Seizures	Associate	20356767, 23257655, 27762395, 28460589, 29929832, 31004928
Seizures Febrile	Associate	12086636, 12773292, 19054398, 21930603, 24668705, 28460589, 31004928, 35022648, 36979350, 40570274
Wounds and Injuries	Associate	32056912

GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2)