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	2554
Gene name	Gamma-aminobutyric acid type A receptor subunit alpha1
Gene symbol	GABRA1
Synonyms (NCBI Gene)	DEE19ECA4EIEE19EJMEJM5
Chromosome	5
Chromosome location	5q34
Summary	This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be mo

Show/Hide all (38)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41308303	C>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121434579	C>A	Risk-factor	Coding sequence variant, missense variant
rs188133840	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs190024862	G>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200750234	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs374616425	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587777307	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777308	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587777309	A>C	Pathogenic	Coding sequence variant, missense variant
rs587777364	G>A	Risk-factor	Coding sequence variant, missense variant
rs727503940	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs769743354	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs775157869	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794727962	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796052488	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796052491	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs796052492	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796052493	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796052494	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796052495	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052496	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796052497	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863225292	G>A	Pathogenic	Coding sequence variant, missense variant
rs879253748	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039373	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1060499553	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793933	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064794681	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795283	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795805	A>G	Likely-pathogenic	Splice acceptor variant
rs1131691884	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1313965409	A>G	Likely-pathogenic	Splice acceptor variant
rs1376907797	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554087620	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1561584736	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1561587715	TGCTCACCATGACAACATTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581220163	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1581220270	C>-	Risk-factor	Coding sequence variant, frameshift variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019183	hsa-miR-335-5p	Microarray	18185580
MIRT668229	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT668228	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT668227	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT668226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT668225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT668224	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT668223	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT668222	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT668221	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT668220	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT668219	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT668218	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT668217	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT668216	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT668229	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT668228	hsa-miR-4778-5p	HITS-CLIP	23824327
MIRT668227	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT668226	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT668225	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT668224	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT668223	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT668222	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT668221	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT668220	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT668219	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT668218	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT668217	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT668216	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT1009759	hsa-miR-1237	CLIP-seq
MIRT1009760	hsa-miR-153	CLIP-seq
MIRT1009761	hsa-miR-3613-3p	CLIP-seq
MIRT1009762	hsa-miR-374a	CLIP-seq
MIRT1009763	hsa-miR-374b	CLIP-seq
MIRT1009764	hsa-miR-4276	CLIP-seq
MIRT1009765	hsa-miR-4302	CLIP-seq
MIRT1009766	hsa-miR-433	CLIP-seq
MIRT1009767	hsa-miR-4421	CLIP-seq
MIRT1009768	hsa-miR-4659a-3p	CLIP-seq
MIRT1009769	hsa-miR-4659b-3p	CLIP-seq
MIRT1009770	hsa-miR-4724-3p	CLIP-seq
MIRT1009771	hsa-miR-4729	CLIP-seq
MIRT1009772	hsa-miR-494	CLIP-seq
MIRT1009773	hsa-miR-515-5p	CLIP-seq
MIRT1009774	hsa-miR-544	CLIP-seq
MIRT1009775	hsa-miR-561	CLIP-seq
MIRT1009776	hsa-miR-1324	CLIP-seq
MIRT1009761	hsa-miR-3613-3p	CLIP-seq
MIRT1009777	hsa-miR-4428	CLIP-seq
MIRT1549141	hsa-miR-192	CLIP-seq
MIRT1549142	hsa-miR-215	CLIP-seq
MIRT1549143	hsa-miR-595	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IDA	23909897, 30602789
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0004890	Function	GABA-A receptor activity	TAS	2465923
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:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	2465923
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	TAS	2465923
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016917	Function	GABA receptor activity	ISS
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, 9039914, 30602789
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032590	Component	Dendrite membrane	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	IDA	23909897
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: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	9039914, 29950725, 30602789
GO:1902710	Component	GABA receptor complex	ISS
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IDA	9039914, 30266951
GO:1902711	Component	GABA-A receptor complex	IPI	29950725, 30602789
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
137160	4075	ENSG00000022355

P14867

Protein name

Gamma-aminobutyric acid receptor subunit alpha-1 (GABA(A) receptor subunit alpha-1) (GABAAR subunit alpha-1)

Protein function

Alpha subunit of the heteropentameric ligand-gated chloride channel gated by Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725, PubMed:30602789). GABA-gated chlori

PDB

6CDU , 6D1S , 6D6T , 6D6U , 6HUG , 6HUJ , 6HUK , 6HUO , 6HUP , 6I53 , 6X3S , 6X3T , 6X3U , 6X3V , 6X3W , 6X3X , 6X3Z , 6X40 , 7PBD , 7PBZ , 7PC0 , 7QNE , 7T0W , 7T0Z , 8DD2 , 8DD3 , 8SGO , 8SI9 , 8SID , 8VQY , 8VRN , 9CRS , 9CRV , 9CSB , 9CT0 , 9CTJ , 9CTP , 9CTV , 9CX7 , 9CXA , 9CXB , 9CXC , 9CXD , 9DRX , 9EQG , 9H9E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	42 → 250	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	257 → 348	Neurotransmitter-gated ion-channel transmembrane region	Family

Sequence

MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPG
LGERVTEVKTDIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASK
IWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHAC
PLKFGSYAYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTGEYVVM
TTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISA
RNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEKPKKVKDP
LIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ

Sequence length

456

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse Taste transduction 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 (8)

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, 19	Pathogenic; Likely pathogenic	rs587777307, rs587777309, rs2532239106, rs2532280628, rs2532261903, rs863225292, rs879253748, rs727503940, rs886039373, rs1060499553, rs796052493, rs1561587715, rs1376907797, rs1561584736, rs1554086436 View all (4 more)	RCV000114936 RCV000114938 RCV002463875 RCV002466326 RCV002468713 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, childhood absence 4	Likely pathogenic; Pathogenic	rs2113307162, rs587777307, rs2113380903, rs2113446665, rs2113464798, rs2113293570, rs2113446442, rs796052491, rs2532280566, rs2532295501, rs2532292255, rs2532261654, rs727503940, rs886039373, rs2532239421 View all (11 more)	RCV001376940 RCV002514572 RCV002004390 RCV001928544 RCV002051050 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, idiopathic generalized, susceptibility to, 13	Likely pathogenic; Pathogenic	rs2113307162, rs587777307, rs2113380903, rs2113446665, rs2113464798, rs2113293570, rs2113446442, rs2113389254, rs2532204989, rs1264701196, rs796052491, rs2532280566, rs2532295501, rs2532292255, rs2532261654 View all (15 more)	RCV001376940 RCV002514572 RCV002004390 RCV001928544 RCV002051050 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1429197938	RCV003484999	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic generalized epilepsy	Likely pathogenic; Pathogenic	rs2113307162, rs587777307, rs2113380903, rs2113446665, rs2113464798, rs2113293570, rs2113446442, rs796052491, rs2532280566, rs2532295501, rs2532292255, rs2532261654, rs727503940, rs886039373, rs2532239421 View all (11 more)	RCV001376940 RCV002514572 RCV002004390 RCV001928544 RCV002051050 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1173578471, rs1755334003	RCV001260771 RCV001260770	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intractable seizure	Likely pathogenic; Pathogenic	rs727503940	RCV000678794	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile myoclonic epilepsy	Likely pathogenic	rs796052488, rs1581220163	RCV000987626 RCV000987627	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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.
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ABSENCE EPILEPSY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRAVET SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ESSENTIAL TREMOR	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GABRA1-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC ENCEPHALOPATHY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, INTRACTABLE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (116)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37434477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	18821008		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18821008, 25124326	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	14706423		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	14706423		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	26918889, 31056671, 31568673, 31707987, 32047208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11454992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	16569738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22038115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22038115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27439062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	10050966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37088138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dravet syndrome	Dravet Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslexia	Dyslexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11992121, 16718694, 20551311, 21714819, 22190369, 23934111, 24623842, 24811917, 26918889, 27521439, 9126483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	LHGDN	17880575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26918889, 27521439, 31056671, 31568673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	24623842, 26918889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	37434477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17079662, 20356767, 24061200, 26918889, 27613244, 27855134, 30324621, 30664068, 31568673		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	20356767, 20551311, 27245092, 28837158, 29056246, 30185235, 30977854, 31568673, 31653223, 32047208, 34740144, 37434477, 40180227	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy Absence	Absence epilepsy	Pubtator	26918889, 31568673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	26918889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	31568673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	26918889, 34740144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, CHILDHOOD ABSENCE, 1	Epilepsy	ORPHANET_DG	16718694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	26060908, 27521439, 30324621, 31568673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	17079662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31707987		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19	Epileptic encephalopathy	UNIPROT_DG	24623842, 27864847		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19	Epileptic encephalopathy	CLINVAR_DG	24623842		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	20308251, 24623842, 26918889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	CTD_human_DG	15765150		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Tremor	BEFREE	16530959, 20820800		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eyelid Diseases	Eyelid disease	Pubtator	38088023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Tremor	Tremor	CTD_human_DG	15765150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	20308251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fulminant Hepatic Failure with Cerebral Edema	Fulminant Hepatic Failure With Cerebral Edema	CTD_human_DG	15929193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22470130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22470130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34001135	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Coma	Hepatic Coma	CTD_human_DG	15929193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	CTD_human_DG	15929193		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	24482035		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Stupor	Hepatic Stupor	CTD_human_DG	15929193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	24482035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	11992121, 16718694, 21714819		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic generalized epilepsy	Epilepsy	CLINVAR_DG	24623842, 26918889, 27353043, 27521439		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Impulsive Petit Mal Epilepsy	Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	20308251, 24623842, 26918889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	24623842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	26918889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31056671		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	11992121, 16029191, 16302872, 16839746, 26918889, 31611775		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	LHGDN	17972043		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	23756480		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile myoclonic epilepsy	Myoclonic Epilepsy	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy of Janz	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	29785705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	29785705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22038115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10512150, 12946574, 14706423, 9861645		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	10512150, 12946574, 14706423, 9861645		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	15201329, 20551311, 26918889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy, Adolescent	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy, Juvenile, 1	Myoclonic Epilepsy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11454992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28837158	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28837158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	19219857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obtundation status	Obtundation status	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrosis	Osteochondrosis	BEFREE	16978184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	10050966, 19219857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Punding	Punding	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15993854, 16172613, 17167345, 21677653, 28073605		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15993854, 16172613, 17167345, 21677653		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29032150	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	20356767, 23782156, 27245092, 31568673, 31618474, 32047208	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	37814294	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasms Infantile	Infantile spasms	Pubtator	26918889, 28864462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	24613745	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	31568673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	12404077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	11454992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	26918889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	27613244		★★★★★ ★☆☆☆☆ Found in Text Mining only

GABRA1 (gamma-aminobutyric acid type A receptor subunit alpha1)