GABRG3

Summary

GABRG3 (gamma-aminobutyric acid type A receptor subunit gamma3, HGNC:4088) is a protein-coding gene on chromosome 15q12, encoding Gamma-aminobutyric acid receptor subunit gamma-3 (Q99928). Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain.

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 modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene.

Source: NCBI Gene 2567 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 63 total — 3 pathogenic
• Phenotypes (HPO): 2
• Druggable target: yes — 15 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_033223

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4088
Approved symbol	GABRG3
Name	gamma-aminobutyric acid type A receptor subunit gamma3
Location	15q12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182256
Ensembl biotype	protein_coding
OMIM	600233
Entrez	2567

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000333743, ENST00000451330, ENST00000553440, ENST00000554696, ENST00000554786, ENST00000555083, ENST00000557596, ENST00000615808

RefSeq mRNA: 2 — MANE Select: NM_033223 NM_001270873, NM_033223

CCDS: CCDS45195, CCDS59251

Canonical transcript exons

ENST00000615808 — 10 exons

Exon	Start	End
ENSE00001291439	27480650	27480787
ENSE00001298044	27326809	27327029
ENSE00001304588	27527433	27527629
ENSE00001309693	27527933	27527992
ENSE00001315542	27026754	27026821
ENSE00001327675	27519972	27520124
ENSE00001675483	26971181	26971588
ENSE00003542533	26977002	26977150
ENSE00003724226	27532600	27541984
ENSE00003738362	27328806	27328888

Expression profiles

Bgee: expression breadth ubiquitous, 115 present calls, max score 81.57.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3056 / max 167.3526, expressed in 245 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
145591	0.5706	186
145590	0.2094	100
145593	0.2007	81
145592	0.1916	77
145589	0.1202	65
145597	0.0131	5

Top tissues by expression

268 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.57	gold quality
cortical plate	UBERON:0005343	79.42	gold quality
right testis	UBERON:0004534	78.53	gold quality
left testis	UBERON:0004533	76.14	gold quality
testis	UBERON:0000473	73.97	gold quality
prefrontal cortex	UBERON:0000451	70.93	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.63	gold quality
adenohypophysis	UBERON:0002196	67.36	gold quality
pituitary gland	UBERON:0000007	65.49	gold quality
sperm	CL:0000019	65.21	gold quality
Brodmann (1909) area 9	UBERON:0013540	64.71	gold quality
hypothalamus	UBERON:0001898	64.32	gold quality
male germ cell	CL:0000015	64.11	silver quality
frontal cortex	UBERON:0001870	63.71	gold quality
neocortex	UBERON:0001950	63.40	gold quality
cingulate cortex	UBERON:0003027	62.98	gold quality
anterior cingulate cortex	UBERON:0009835	62.80	gold quality
right frontal lobe	UBERON:0002810	62.67	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	62.28	gold quality
ganglionic eminence	UBERON:0004023	61.49	gold quality
endometrium epithelium	UBERON:0004811	61.41	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	60.94	gold quality
corpus callosum	UBERON:0002336	60.57	gold quality
prostate gland	UBERON:0002367	60.43	gold quality
nucleus accumbens	UBERON:0001882	59.78	gold quality
cerebral cortex	UBERON:0000956	59.35	gold quality
ventricular zone	UBERON:0003053	58.82	gold quality
forebrain	UBERON:0001890	58.75	gold quality
sural nerve	UBERON:0015488	58.60	silver quality
metanephros cortex	UBERON:0010533	58.54	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	83.90
E-HCAD-25	yes	49.21
E-ANND-3	yes	6.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting GABRG3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-147A	98.33	66.40	795
HSA-MIR-2681-3P	98.18	65.28	577
HSA-MIR-6500-3P	97.42	67.20	867
HSA-MIR-3201	97.16	65.42	1044
HSA-MIR-8056	97.15	64.49	769
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-656-5P	96.82	67.67	372

Literature-anchored findings (GeneRIF, showing 12)

• There is consistent evidence of association between alcohol dependence and GABRG3: all single-nucleotide polymorphisms across the gene yielded evidence of association, and haplotype analyses were highly significant in alcoholics compared to controls. (PMID:14745296)
• A daughter who carried the der Y had the clinical features of Prader-Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism. (PMID:14981720)
• Genetic polymorphism of the gene is substantially involving in individual variation of susceptibility to alcohol dependence. (PMID:18516948)
• results of the present study suggest that hippocampal neurons expressing GABAAgamma receptor subunits resist the progression of neurofibrillary degeneration in Alzheimer disease hippocampus (PMID:19019179)
• suggestive evidence was found for association between rs8036270 in the GABRG3 gene and exercise participation (PMID:19727025)
• Meta-analysis showed that GABRG3 polymorphisms are not significantly associated with autism. (PMID:29725984)
• GABRG3 is a susceptibility gene for autism in Chinese Han (PMID:30108208)
• An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population. (PMID:34530807)
• Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies. (PMID:34779508)
• SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs. (PMID:35403940)
• GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands. (PMID:35562522)
• Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder. (PMID:37019319)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gabrg3	ENSMUSG00000055026
rattus_norvegicus	Gabrg3	ENSRNOG00000014862

Paralogs (45): GABRA3 (ENSG00000011677), GABRA1 (ENSG00000022355), CHRNA3 (ENSG00000080644), GABRP (ENSG00000094755), CHRNA4 (ENSG00000101204), GLRA2 (ENSG00000101958), GABRE (ENSG00000102287), CHRNE (ENSG00000108556), GABRA4 (ENSG00000109158), GLRB (ENSG00000109738), GABRR2 (ENSG00000111886), GABRG2 (ENSG00000113327), CHRNB4 (ENSG00000117971), CHRNA2 (ENSG00000120903), CHRNA10 (ENSG00000129749), CHRND (ENSG00000135902), CHRNA1 (ENSG00000138435), GLRA3 (ENSG00000145451), GABRA6 (ENSG00000145863), GABRB2 (ENSG00000145864), GLRA1 (ENSG00000145888), GABRR1 (ENSG00000146276), CHRNB3 (ENSG00000147432), CHRNA6 (ENSG00000147434), HTR3B (ENSG00000149305), GABRA2 (ENSG00000151834), CHRNB2 (ENSG00000160716), GABRG1 (ENSG00000163285), GABRB1 (ENSG00000163288), GABRB3 (ENSG00000166206), CHRFAM7A (ENSG00000166664), HTR3A (ENSG00000166736), CHRNA5 (ENSG00000169684), CHRNB1 (ENSG00000170175), CHRNA9 (ENSG00000174343), CHRNA7 (ENSG00000175344), HTR3C (ENSG00000178084), GABRR3 (ENSG00000183185), HTR3E (ENSG00000186038), HTR3D (ENSG00000186090)

Protein

Protein identifiers

Gamma-aminobutyric acid receptor subunit gamma-3 — Q99928 (reviewed: Q99928)

Alternative names: GABA(A) receptor subunit gamma-3

All UniProt accessions (5): Q99928, A0A0A0MR73, H0YJ81, H0YJP1, H7BZQ0

UniProt curated annotations — full annotation on UniProt →

Function. Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s). When activated by GABA, GABAARs selectively allow the flow of chloride across the cell membrane down their electrochemical gradient.

Subunit / interactions. Heteropentamer, formed by a combination of alpha (GABRA1-6), beta (GABRB1-3), gamma (GABRG1-3), delta (GABRD), epsilon (GABRE), rho (GABRR1-3), pi (GABRP) and theta (GABRQ) chains, each subunit exhibiting distinct physiological and pharmacological properties.

Subcellular location. Postsynaptic cell membrane. Cell membrane.

Tissue specificity. Expressed in brain.

Post-translational modifications. May be palmitoylated.

Domain organisation. GABAARs subunits share a common topological structure: a peptide sequence made up of a long extracellular N-terminal, four transmembrane domains, intracellular or cytoplasmic domain located between the third and the fourth transmembrane domains.

Similarity. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub-subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99928-1	1	yes
Q99928-2	2

RefSeq proteins (2): NP_001257802, NP_150092* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005437	GABRG-1/4	Family
IPR005440	GABBAg3_rcpt	Family
IPR006028	GABAA/Glycine_rcpt	Family
IPR006029	Neurotrans-gated_channel_TM	Domain
IPR006201	Neur_channel	Family
IPR006202	Neur_chan_lig-bd	Domain
IPR018000	Neurotransmitter_ion_chnl_CS	Conserved_site
IPR036719	Neuro-gated_channel_TM_sf	Homologous_superfamily
IPR036734	Neur_chan_lig-bd_sf	Homologous_superfamily
IPR038050	Neuro_actylchol_rec	Homologous_superfamily

Pfam: PF02931, PF02932

Catalyzed reactions (Rhea), 1 shown:

• chloride(in) = chloride(out) (RHEA:29823)

UniProt features (18 total): topological domain 4, transmembrane region 4, glycosylation site 2, splice variant 2, sequence conflict 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99928-F1	75.44	0.51

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 171–185

Glycosylation sites (2): 110, 228

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-1236394	Signaling by ERBB4
R-HSA-977443	GABA receptor activation

MSigDB gene sets: 143 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, BENPORATH_ES_WITH_H3K27ME3, GOBP_SYNAPSE_ASSEMBLY, MODULE_64, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_GAMMA_AMINOBUTYRIC_ACID_SIGNALING_PATHWAY, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_CHLORIDE_TRANSPORT, GOBP_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, MODULE_99, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_SYNAPTIC_SIGNALING, GOBP_CELL_JUNCTION_ASSEMBLY

GO Biological Process (9): gamma-aminobutyric acid signaling pathway (GO:0007214), response to xenobiotic stimulus (GO:0009410), synaptic transmission, GABAergic (GO:0051932), chloride transmembrane transport (GO:1902476), inhibitory synapse assembly (GO:1904862), monoatomic ion transport (GO:0006811), chloride transport (GO:0006821), monoatomic ion transmembrane transport (GO:0034220), regulation of postsynaptic membrane potential (GO:0060078)

GO Molecular Function (8): GABA-A receptor activity (GO:0004890), GABA-gated chloride ion channel activity (GO:0022851), transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315), transmembrane signaling receptor activity (GO:0004888), monoatomic ion channel activity (GO:0005216), extracellular ligand-gated monoatomic ion channel activity (GO:0005230), chloride channel activity (GO:0005254), benzodiazepine receptor activity (GO:0008503)

GO Cellular Component (12): nucleolus (GO:0005730), plasma membrane (GO:0005886), microtubule cytoskeleton (GO:0015630), dendrite membrane (GO:0032590), chloride channel complex (GO:0034707), postsynaptic membrane (GO:0045211), postsynapse (GO:0098794), GABA-ergic synapse (GO:0098982), GABA-A receptor complex (GO:1902711), membrane (GO:0016020), synapse (GO:0045202), synaptic membrane (GO:0097060)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Signaling by Receptor Tyrosine Kinases	1
Neurotransmitter receptors and postsynaptic signal transmission	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
synapse	3
GABA receptor activity	2
transmitter-gated monoatomic ion channel activity	2
cellular anatomical structure	2
cell-cell signaling	1
response to chemical	1
chemical synaptic transmission	1
chloride transport	1
monoatomic anion transmembrane transport	1
synapse assembly	1
transport	1
monoatomic anion transport	1
inorganic anion transport	1
monoatomic ion transport	1
transmembrane transport	1
regulation of membrane potential	1
chloride channel activity	1
ligand-gated monoatomic anion channel activity	1
regulation of postsynaptic membrane potential	1
signaling receptor activity	1
monoatomic ion transmembrane transporter activity	1
channel activity	1
ligand-gated monoatomic ion channel activity	1
monoatomic anion channel activity	1
chloride transmembrane transporter activity	1
neurotransmitter receptor activity	1
nuclear lumen	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
cytoskeleton	1
dendrite	1
neuron projection membrane	1
monoatomic ion channel complex	1
synaptic membrane	1
postsynapse	1
GABA receptor complex	1
cell junction	1
plasma membrane region	1

Protein interactions and networks

STRING

1122 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GABRG3	UBE3A	P78355	758
GABRG3	ATP10A	O60312	647
GABRG3	MAGEL2	Q9UJ55	582
GABRG3	MKRN3	Q13064	581
GABRG3	SNRPN	P14648	581
GABRG3	NIPA1	Q7RTP0	577
GABRG3	NIPA2	Q8N8Q9	572
GABRG3	MECP2	P51608	548
GABRG3	NDN	Q99608	544
GABRG3	TUBGCP5	Q96RT8	510
GABRG3	OCA2	Q04671	507
GABRG3	UBE2K	P27924	500
GABRG3	CYFIP1	Q7L576	498
GABRG3	GABBR2	O75899	481
GABRG3	NPAP1	Q9NZP6	479

IntAct

0 interactions, top by confidence:

BioGRID (4): GABRG3 (Synthetic Growth Defect), GABRG3 (Affinity Capture-Western), GABRG3 (Affinity Capture-MS), GABRG3 (Affinity Capture-MS)

ESM2 similar proteins: B0BM39, B3VSC2, B5X3I6, F7BWT7, O14494, O14817, O35566, O42602, O42603, O43688, O60636, O62772, O75954, O88956, O95857, O95858, P35353, P47866, P48509, P60588, Q01453, Q06AA5, Q13324, Q3SYV5, Q3ZBV0, Q4L208, Q5RAP3, Q5RAZ3, Q5ZJ75, Q60748, Q6DCQ3, Q6GMK6, Q6WL85, Q86UF1, Q8BJU2, Q8K593, Q8R3S2, Q8R4D1, Q90812, Q91ZH7

Diamond homologs: A8MPY1, D1LYT2, F1R8P4, G5EBR3, O00591, O09028, O14764, O18276, O75311, O93430, P07727, P08219, P08220, P0C2W5, P10063, P10064, P14867, P15431, P16305, P18505, P18506, P18507, P18508, P19019, P19150, P19969, P20236, P20237, P20781, P21548, P22300, P22723, P22771, P22933, P23415, P23416, P23574, P23576, P24045, P24046

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

63 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	43
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
154646	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	Pathogenic
813312	GRCh37/hg19 15q12-13.1(chr15:27571956-28600013)	Pathogenic
870529	NM_033223.5(GABRG3):c.1125C>T (p.Asn375=)	Pathogenic

SpliceAI

4167 predictions. Top by Δscore:

Variant	Effect	Δscore
15:26971584:GCGCG:G	donor_gain	1.0000
15:26971585:CGCGG:C	donor_loss	1.0000
15:26971586:GCG:G	donor_gain	1.0000
15:26971587:CGG:C	donor_loss	1.0000
15:26971588:GGT:G	donor_loss	1.0000
15:26971589:G:GG	donor_gain	1.0000
15:26971589:GTAAG:G	donor_loss	1.0000
15:26971590:T:G	donor_loss	1.0000
15:26976994:A:AG	acceptor_gain	1.0000
15:26977132:C:G	donor_gain	1.0000
15:26977147:GGAA:G	donor_gain	1.0000
15:26977148:G:GT	donor_gain	1.0000
15:26977148:GAA:G	donor_gain	1.0000
15:26977149:AA:A	donor_gain	1.0000
15:26977149:AAGT:A	donor_loss	1.0000
15:26977150:AG:A	donor_loss	1.0000
15:26977151:G:GG	donor_gain	1.0000
15:26977151:GT:G	donor_loss	1.0000
15:26977152:TGAGT:T	donor_loss	1.0000
15:26977153:GAGTG:G	donor_loss	1.0000
15:27026752:A:AG	acceptor_gain	1.0000
15:27026753:G:GG	acceptor_gain	1.0000
15:27026753:GT:G	acceptor_gain	1.0000
15:27026753:GTA:G	acceptor_gain	1.0000
15:27026753:GTAA:G	acceptor_gain	1.0000
15:27026753:GTAAA:G	acceptor_gain	1.0000
15:27026818:CATGG:C	donor_loss	1.0000
15:27026821:GGT:G	donor_loss	1.0000
15:27026822:GT:G	donor_loss	1.0000
15:27026823:T:G	donor_loss	1.0000

AlphaMissense

3060 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:27326842:T:A	W102R	1.000
15:27326842:T:C	W102R	1.000
15:27326844:G:C	W102C	1.000
15:27326844:G:T	W102C	1.000
15:27326858:T:C	L107P	1.000
15:27326917:T:A	W127R	1.000
15:27326917:T:C	W127R	1.000
15:27326919:G:C	W127C	1.000
15:27326919:G:T	W127C	1.000
15:27326993:G:C	R152P	1.000
15:27328825:T:A	C171S	1.000
15:27328825:T:C	C171R	1.000
15:27328826:G:A	C171Y	1.000
15:27328826:G:C	C171S	1.000
15:27328827:C:G	C171W	1.000
15:27328846:T:C	F178L	1.000
15:27328847:T:G	F178C	1.000
15:27328848:C:A	F178L	1.000
15:27328848:C:G	F178L	1.000
15:27328849:C:T	P179S	1.000
15:27328850:C:A	P179H	1.000
15:27328855:G:C	D181H	1.000
15:27328867:T:C	C185R	1.000
15:27328868:G:A	C185Y	1.000
15:27328869:C:G	C185W	1.000
15:27328874:T:C	L187P	1.000
15:27480682:T:A	W203R	1.000
15:27480682:T:C	W203R	1.000
15:27480736:T:C	F221L	1.000
15:27480738:T:A	F221L	1.000

dbSNP variants (sampled 300 via entrez): RS1000004779 (15:27222937 G>A), RS1000005115 (15:27196682 A>G), RS1000007606 (15:27235885 T>A,G), RS1000013137 (15:27510866 G>A), RS1000022589 (15:27380927 A>G,T), RS1000022883 (15:27470884 C>T), RS1000025712 (15:27208593 G>A), RS1000027208 (15:27318123 A>G), RS1000028200 (15:27305401 G>A), RS1000032218 (15:27021544 G>A,C), RS1000033888 (15:27522025 G>T), RS1000039813 (15:27517096 C>A,T), RS1000051415 (15:27511338 G>A), RS1000058198 (15:27115855 A>G), RS1000063901 (15:27344509 TTCTC>T)

Disease associations

OMIM: gene MIM:600233 | disease phenotypes: MIM:207500, MIM:301800, MIM:615516, MIM:105830

GenCC curated gene-disease

Mondo (5): imperforate anus (MONDO:0001046), urethral stricture (MONDO:0002127), patent foramen ovale (MONDO:0020439), developmental delay with autism spectrum disorder and gait instability (MONDO:0014224), Angelman syndrome (MONDO:0007113)

Orphanet (4): Non-syndromic anorectal malformation (Orphanet:557), Developmental delay with autism spectrum disorder and gait instability (Orphanet:329195), Angelman syndrome (Orphanet:72), NON RARE IN EUROPE: Patent foramen ovale (Orphanet:99108)

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0012227	Urethral stricture
HP:0001655	Patent foramen ovale

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST001680_10	Corneal curvature	9.000000e-06
GCST001915_34	Alzheimer’s disease (cognitive decline)	3.000000e-07
GCST002408_14	Response to methotrexate in juvenile idiopathic arthritis	3.000000e-06
GCST002786_2	Gene methylation in lung tissue	4.000000e-06
GCST002786_3	Gene methylation in lung tissue	3.000000e-09
GCST003254_9	Urinary albumin-to-creatinine ratio in non-diabetics	6.000000e-06
GCST005173_50	Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes	2.000000e-07
GCST005175_34	Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes	8.000000e-06
GCST006484_13	Type 2 diabetes	8.000000e-07
GCST007325_169	General risk tolerance (MTAG)	1.000000e-08
GCST007490_22	Anthropometric traits (multi-trait analysis)	4.000000e-09
GCST008152_139	Weight	6.000000e-06
GCST008516_11	Skin pigmentation (conditioned on rs1426654 and rs35397)	9.000000e-09
GCST008521_15	Bitter beverage consumption	8.000000e-06
GCST009007_5	High-grade serous ovarian cancer	9.000000e-07
GCST012462_4	Asthma and eczema	2.000000e-06

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004345	corneal topography
EFO:0006959	gene methylation measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004723	coronary artery calcification
EFO:0008579	risk-taking behaviour
EFO:0004324	body weights and measures
EFO:0004338	body weight
EFO:0010089	bitter beverage consumption measurement
EFO:1001516	ovarian serous carcinoma

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D017204	Angelman Syndrome	C10.228.662.075; C16.131.077.095; C16.131.260.040; C16.320.180.040; C16.320.447.250
D001006	Anus, Imperforate	C06.198.050; C16.131.314.094
D054092	Foramen Ovale, Patent	C14.240.400.560.375.258; C14.280.400.560.375.258; C16.131.240.400.560.375.258
D014525	Urethral Stricture	C12.050.351.968.767.700.700; C12.200.777.767.700.700; C12.950.767.700.700
C531619	Happy puppet syndrome (formerly) (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (4): CHEMBL2093872 (PROTEIN COMPLEX GROUP), CHEMBL2109243 (PROTEIN COMPLEX GROUP), CHEMBL3885573 (PROTEIN COMPLEX), CHEMBL3885577 (PROTEIN COMPLEX)

Molecules with ChEMBL bioactivity

15 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 442,649 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1082407	ENZALUTAMIDE	4	9,652
CHEMBL12	DIAZEPAM	4	92,281
CHEMBL1544	LIOTHYRONINE	4	23,700
CHEMBL1568698	GANAXOLONE	4	1,657
CHEMBL207538	BREXANOLONE	4	1,585
CHEMBL3183409	APALUTAMIDE	4	4,076
CHEMBL407	FLUMAZENIL	4	7,150
CHEMBL452	CLONAZEPAM	4	33,297
CHEMBL268254	DELORAZEPAM	2	1,308
CHEMBL275638	FLAVONE	2	88,985
CHEMBL287631	PROGABIDE	2	3,853
CHEMBL454095	ABECARNIL	2	566
CHEMBL8260	BAICALEIN	2	8,592
CHEMBL273481	MUSCIMOL	1	5,759
CHEMBL96	GAMMA-AMINOBUTYRIC ACID	1	160,188

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2061051	Toxicity	3	antipsychotics	Schizophrenia

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2061051	GABRG3	3	2.50	1	antipsychotics

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: lgic — GABA_A receptors

ChEMBL bioactivities

475 potent at pChembl≥5 of 512 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.00	IC50	0.1	nM	CHEMBL454349
9.80	IC50	0.16	nM	CHEMBL309517
9.70	IC50	0.2	nM	CHEMBL4747460
9.62	IC50	0.24	nM	CHEMBL79037
9.40	IC50	0.3981	nM	CGS-8216
9.40	IC50	0.4	nM	CHEMBL1271047
9.34	IC50	0.46	nM	CHEMBL78730
9.31	IC50	0.49	nM	CHEMBL76263
9.30	IC50	0.5	nM	CHEMBL5266498
9.30	IC50	0.5	nM	CHEMBL5290464
9.30	IC50	0.5	nM	CHEMBL5280240
9.30	IC50	0.5	nM	CHEMBL49141
9.30	IC50	0.5	nM	CHEMBL1518572
9.22	IC50	0.6026	nM	CGS-9896
9.22	IC50	0.6	nM	CHEMBL419096
9.12	IC50	0.76	nM	CHEMBL540583
9.10	IC50	0.79	nM	CHEMBL77226
9.10	IC50	0.8	nM	CHEMBL5265845
9.10	IC50	0.8	nM	CHEMBL5291368
9.10	IC50	0.8	nM	CHEMBL5271392
9.07	Ki	0.85	nM	CLONAZEPAM
9.05	Ki	0.9	nM	FLUMAZENIL
9.05	IC50	0.9	nM	CHEMBL5285377
9.00	Ki	1	nM	CHEMBL3410222
9.00	IC50	1	nM	BETA-CCM
9.00	IC50	1	nM	CHEMBL454606
9.00	IC50	1	nM	CHEMBL1337028
9.00	IC50	1	nM	CHEMBL509197
9.00	IC50	1	nM	ABECARNIL
9.00	Ki	1	nM	CHEMBL54341
9.00	Ki	1	nM	CHEMBL348367
8.96	IC50	1.1	nM	CHEMBL444586
8.77	Ki	1.7	nM	CHEMBL154342
8.74	IC50	1.8	nM	CHEMBL444050
8.70	IC50	2	nM	MUSCIMOL
8.66	IC50	2.2	nM	CHEMBL80610
8.64	IC50	2.3	nM	FIPRONIL
8.55	IC50	2.8	nM	CHEMBL75642
8.55	Ki	2.8	nM	CHEMBL372281
8.55	IC50	2.8	nM	DELORAZEPAM
8.52	Ki	3	nM	CHEMBL265547
8.52	IC50	3	nM	CHEMBL510764
8.52	IC50	3	nM	CHEMBL5266558
8.52	IC50	3	nM	CHEMBL2262044
8.52	IC50	3	nM	CHEMBL499814
8.52	IC50	3	nM	CHEMBL1161036
8.48	IC50	3.3	nM	CHEMBL75642
8.40	IC50	3.981	nM	CHEMBL301605
8.40	Ki	4	nM	CHEMBL330116
8.40	Ki	4	nM	CHEMBL3407528

PubChem BioAssay actives

409 with measured affinity, of 879 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-(4-methoxyphenyl)-1H-pyrazolo[4,3-c]quinolin-3-one	40988: Inhibition on Benzodiazepine receptor	ic50	0.0001	uM
ethyl 4-(methoxymethyl)-5-phenylmethoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0002	uM
ethyl 4-methyl-5-propan-2-yloxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0004	uM
2-phenyl-3aH-pyrazolo[4,3-c]quinolin-3-one	40988: Inhibition on Benzodiazepine receptor	ic50	0.0004	uM
ethyl 4-(methoxymethyl)-6-phenylmethoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 4-(methoxymethyl)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 6-methoxy-4-(methoxymethyl)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 4-(methoxymethyl)-6-propoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
ethyl 6-hydroxy-4-(methoxymethyl)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0005	uM
2-(4-chlorophenyl)-3aH-pyrazolo[4,3-c]quinolin-3-one	40988: Inhibition on Benzodiazepine receptor	ic50	0.0006	uM
5-[[3-(1,3-benzodioxol-5-yl)-6-iminopyridazin-1-yl]methyl]-1,2-thiazol-3-one;hydrobromide	72153: Affinity for gamma-aminobutyric-acid A receptor measured by its ability to displace [3H]gabazine antagonist from rat brain preparations.	ic50	0.0008	uM
propan-2-yl 16-(methoxymethyl)-3,6,11,14-tetrazatetracyclo[8.7.0.02,7.012,17]heptadeca-1(10),2,4,6,8,12,14,16-octaene-15-carboxylate	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0008	uM
propan-2-yl 4-(methoxymethyl)-6,9,14,21-tetrazapentacyclo[11.8.0.02,10.03,8.015,20]henicosa-1(21),2,4,6,8,10,12,15(20)-octaene-5-carboxylate	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0008	uM
propan-2-yl 15-(methoxymethyl)-4-propan-2-yl-5-oxa-10,13-diazatetracyclo[7.7.0.02,6.011,16]hexadeca-1(9),2(6),3,7,11,13,15-heptaene-14-carboxylate	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0008	uM
Clonazepam	239299: Displacement of [3H]flumazenil from bovine benzodiazepine receptor GABA-A channel of brain membranes	ki	0.0008	uM
15-(methoxymethyl)-14-(5-methyl-1,2-oxazol-3-yl)-4-propan-2-yl-5-oxa-3,10,13-triazatetracyclo[7.7.0.02,6.011,16]hexadeca-1(9),2(6),3,7,11,13,15-heptaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0009	uM
Flumazenil	239299: Displacement of [3H]flumazenil from bovine benzodiazepine receptor GABA-A channel of brain membranes	ki	0.0009	uM
ethyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
methyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
propyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
tert-butyl 9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
7-chloro-5-methyl-3-(2-phenylethynyl)-4H-imidazo[1,5-a][1,4]benzodiazepin-6-one	1196597: Displacement of [3H]flumazenil from rat cortex GABAA receptor BDZ binding site expressed in HEK293 cells by competition binding assay	ki	0.0010	uM
6-bromo-2-(3-nitrophenyl)chromen-4-one	72729: Binding affinity towards benzodiazepine site in GABAA receptor	ki	0.0010	uM
(2-methoxyphenyl)methyl 8-chloro-5-oxido-3,3a-dihydropyrazolo[5,1-c][1,2,4]benzotriazin-5-ium-3-carboxylate	41860: Binding affinity towards Benzodiazepine receptor from bovine brain membrane using [3H]Ro-151788 as radioligand	ki	0.0010	uM
propan-2-yl 4-(methoxymethyl)-6-phenylmethoxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0010	uM
(2-methoxyphenyl)methyl 8-chloropyrazolo[5,1-c][1,2,4]benzotriazine-3-carboxylate	41860: Binding affinity towards Benzodiazepine receptor from bovine brain membrane using [3H]Ro-151788 as radioligand	ki	0.0017	uM
5-(aminomethyl)-1,2-oxazol-3-one	72155: Binding affinity in vivo for gamma-aminobutyric-acid A receptor measured by its ability to displace [3H]-GABA agonist from rat brain preparations after iv injection.	ic50	0.0020	uM
Fipronil	242615: In vitro insecticidal activity as inhibition of [3H]EBOB binding to Gamma-aminobutyric acid GABA-A receptor of housefly neuronal membranes	ic50	0.0023	uM
9-chloro-2-phenyl-6H-triazolo[1,2-a][1,2,4]benzotriazine-1,5-dione	239299: Displacement of [3H]flumazenil from bovine benzodiazepine receptor GABA-A channel of brain membranes	ki	0.0028	uM
7-chloro-5-(2-chlorophenyl)-1,3-dihydro-1,4-benzodiazepin-2-one	40974: In vitro displacement of [3H]-diazepam from GABA-A Benzodiazepine receptor	ic50	0.0028	uM
3-isothiocyanato-9H-pyrido[3,4-b]indole	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
9H-pyrido[3,4-b]indole-3-carbonitrile	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
3-(6,7-difluoro-1,3-benzoxazol-2-yl)-1,3a,4,5,6,7,8,8a-octahydrocyclohepta[d]imidazol-2-one	40986: Binding affinity against GABA-A benzodiazepine receptor	ki	0.0030	uM
(5aR,7R,9aS,11aS)-2-amino-7-hydroxy-9a,11a-dimethyl-3,3a,3b,4,5,5a,6,7,8,9,9b,11-dodecahydronaphtho[2,1-e]indol-10-one	72153: Affinity for gamma-aminobutyric-acid A receptor measured by its ability to displace [3H]gabazine antagonist from rat brain preparations.	ic50	0.0030	uM
3-propoxy-9H-pyrido[3,4-b]indole	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
1-(9H-pyrido[3,4-b]indol-3-yl)butan-1-one	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0030	uM
8-fluoro-5-methyl-3-(2-phenylethynyl)-4H-imidazo[1,5-a][1,4]benzodiazepin-6-one	1196597: Displacement of [3H]flumazenil from rat cortex GABAA receptor BDZ binding site expressed in HEK293 cells by competition binding assay	ki	0.0040	uM
methyl 6-hydroxy-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0040	uM
2-phenyl-6H-[1,2,4]triazolo[1,5-c]quinazolin-5-one	40986: Binding affinity against GABA-A benzodiazepine receptor	ki	0.0040	uM
17-chloro-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
5-nitro-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
5-bromo-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
17-methoxy-9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
9,12,20-triazapentacyclo[11.7.0.02,10.03,8.014,19]icosa-1(13),2(10),3,5,7,11,14,16,18-nonaene	1932305: Inhibition of GABAA receptor (unknown origin)	ic50	0.0040	uM
methyl 6-(benzylamino)-9H-pyrido[3,4-b]indole-3-carboxylate	1932290: Displacement of [3H]flunitrazepam from GABAA (unknown origin ) receptor by radioligand binding assay	ic50	0.0040	uM
Diazepam	1934094: Inhibition of GABA-A receptor (unknown origin)	ic50	0.0042	uM
4-acetyl-13-(4-chlorophenyl)-5-thia-13,14-diazatricyclo[8.4.0.02,6]tetradeca-1(10),2(6),3-trien-12-one	40977: Binding affinity for GABA-A Benzodiazepine receptor	ki	0.0042	uM
1-[2,6-dichloro-4-(trifluoromethyl)phenyl]-4-(trifluoromethylsulfinyl)pyrazole	242615: In vitro insecticidal activity as inhibition of [3H]EBOB binding to Gamma-aminobutyric acid GABA-A receptor of housefly neuronal membranes	ic50	0.0042	uM
2-amino-N-[4-chloro-2-(2-chlorobenzoyl)phenyl]acetamide	40974: In vitro displacement of [3H]-diazepam from GABA-A Benzodiazepine receptor	ic50	0.0048	uM
3-(7-fluoro-1,3-benzoxazol-2-yl)-1,3a,4,5,6,7,8,8a-octahydrocyclohepta[d]imidazol-2-one	40986: Binding affinity against GABA-A benzodiazepine receptor	ki	0.0050	uM

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
sodium arsenite	increases expression	1
entinostat	increases expression	1
bisphenol S	affects methylation, affects cotreatment, increases methylation	1
Fulvestrant	affects cotreatment, increases methylation	1
Allergens	increases expression	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Biological Factors	decreases expression	1
Lead	affects expression	1
Progesterone	increases expression	1
Sarin	increases expression	1
Triclosan	increases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	increases methylation	1

ChEMBL screening assays

191 unique, capped per target: 172 binding, 15 functional, 3 toxicity, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3363914	Binding	Displacement of [3H]Muscimol from rat GABAA receptor at 10 uM after 90 mins by microbeta counting analysis	Griseorhodins D-F, neuroactive intermediates and end products of post-PKS tailoring modification in Griseorhodin biosynthesis. — J Nat Prod
CHEMBL4810229	ADMET	Inhibition of GABA A receptor (unknown origin) at 0.1 to 1 uM	Discovery of Pemigatinib: A Potent and Selective Fibroblast Growth Factor Receptor (FGFR) Inhibitor. — J Med Chem
CHEMBL5335653	Toxicity	Antagonist activity at GABA-A (unknown origin)	Discovery of a Novel Bifunctional Steroid Analog, YXG-158, as an Androgen Receptor Degrader and CYP17A1 Inhibitor for the Treatment of Enzalutamide-Resistant Prostate Cancer. — J Med Chem

Clinical trials (associated diseases)

190 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01196572	PHASE4	UNKNOWN	Efficiency of Cold vs. Laser Internal Urethrotomy Treatment of Urethral Strictures
NCT03859024	PHASE4	COMPLETED	Efficacy of Opioid-limiting Pain Management Protocol in Men Undergoing Urethroplasty
NCT05383274	PHASE4	RECRUITING	Optilume PoST AppRoval Clinical Evaluation of Andrology ParaMeters
NCT06795074	PHASE4	RECRUITING	Risk of Recurrent Urethral Stricture After Treatment With Paclitaxel-Coated Dilatation Balloon (Optilume) Compared With Non-coated Dilatation Balloon
NCT07501884	PHASE4	NOT_YET_RECRUITING	REDUCER Trial (TXA in Urethroplasty)
NCT00697151	PHASE4	COMPLETED	Patent Foramen Ovale in Cryptogenic Stroke Study
NCT01550588	PHASE4	UNKNOWN	Device Closure Versus Medical Therapy for Cryptogenic Stroke Patients With High-Risk Patent Foramen Ovale (DEFENSE-PFO)
NCT05561660	PHASE4	UNKNOWN	COMParison of the EffecT of dEvice Closure in Alleviating Migraine With PFO (COMPETE-2)
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT00270504	PHASE3	COMPLETED	Memokath® 044TW Stent for Treatment of Urethral Stricture
NCT03720223	PHASE3	COMPLETED	Liposomal Bupivacaine To Control Post-Operative Pain Following BMG
NCT00562289	PHASE3	COMPLETED	Patent Foramen Ovale Closure or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence
NCT01333761	PHASE3	TERMINATED	Cardiox Shunt Detection Technology Study
NCT01773252	PHASE3	TERMINATED	Right to Left Cardiac Shunt Detection
NCT05213104	PHASE3	ACTIVE_NOT_RECRUITING	Assessment of Flecainide to Lower the Patent Foramen Ovale Closure Risk of Atrial Arrhythmia or Tachycardia
NCT05387954	PHASE3	RECRUITING	PFO Closure, Oral Anticoagulants or Antiplatelet Therapy After PFO-associated Stroke in Patients Aged 60 to 80 Years
NCT02893254	PHASE3	COMPLETED	Efficacy and Safety of IBI303 in Adult Patients With Active Ankylosing Spondylitis
NCT03882918	PHASE3	TERMINATED	An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome
NCT06415344	PHASE3	ENROLLING_BY_INVITATION	Long-term Extension of GTX-102 in Angelman Syndrome
NCT06617429	PHASE3	ACTIVE_NOT_RECRUITING	Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)
NCT06914609	PHASE3	RECRUITING	REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome
NCT07605429	PHASE3	NOT_YET_RECRUITING	Phase III Clinical Study of Rugonersen in Angelman Syndrome.
NCT00535717	PHASE2	COMPLETED	Role of Uttarbasti in the Management of Mutra Marga Sankoch (Urethral Stricture)
NCT02948842	PHASE2	COMPLETED	Clostridium Histolyticum Collagenase Injection for Urethral Disease
NCT04307537	PHASE2	COMPLETED	Post-Operative Imaging After Urethroplasty With Peri-catheter Retrograde Urethrography Or Trial of Voiding With Voiding Cysto-urethrography
NCT00505570	PHASE2	TERMINATED	PRIMA PFO Migraine Trial
NCT02378623	PHASE2	WITHDRAWN	Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli
NCT02777359	PHASE2	UNKNOWN	Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches
NCT05546320	PHASE2	COMPLETED	Comparison of the Effect of Medication Therapy in Alleviating Migraine With Patent Foramen Ovale
NCT02056665	PHASE2	COMPLETED	Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
NCT02996305	PHASE2	COMPLETED	A Study in Adults and Adolescents With Angelman Syndrome (STARS)
NCT05011851	PHASE2	COMPLETED	An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
NCT05630066	PHASE2	COMPLETED	A Study to Investigate the Pharmacokinetics (PK) and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.
NCT07157254	PHASE2	RECRUITING	A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)
NCT03061344	PHASE1	UNKNOWN	Liquid Buccal Mucosa Graft Urethroplasty
NCT03258658	PHASE1	RECRUITING	Safety and Feasibility Study of Autologous Engineered Urethral Constructs for the Treatment of Strictures
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