RORB

Summary

RORB (RAR related orphan receptor B, HGNC:10259) is a protein-coding gene on chromosome 9q21.13, encoding Nuclear receptor ROR-beta (Q92753). Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5’-AGGTCA-3’ preceded by a short A-T-rich sequence. It is haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm.

Source: NCBI Gene 6096 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 13
• Clinical variants (ClinVar): 478 total — 39 pathogenic, 24 likely-pathogenic (top 7% of genes corpus-wide)
• Regional missense constraint (gnomAD): 2 of 4 regions constrained (≈42% of expected missense variation)
• GTEx eGene: eQTL in 13 tissues, sQTL in 0 (q < 0.05)
• Phenotypes (HPO): 15
• ChEMBL bioactivity: 2 clinical-phase molecules tested; no curated mechanism-of-action drug
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.26 (highly constrained)
• MANE Select transcript: NM_006914

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10259
Approved symbol	RORB
Name	RAR related orphan receptor B
Location	9q21.13
Locus type	gene with protein product
Status	Approved
Aliases	RZRB, NR1F2, ROR-BETA, RORβ, RZR-BETA
Ensembl gene	ENSG00000198963
Ensembl biotype	protein_coding
OMIM	601972
Entrez	6096

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

MANE Select: ENST00000376896

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2

ENST00000376896, ENST00000396204, ENST00001134894

RefSeq mRNA: 2 — MANE Select: NM_006914 NM_001365023, NM_006914

CCDS: CCDS6646, CCDS94422

Canonical transcript exons

ENST00000376896 — 10 exons

Exon	Start	End
ENSE00000706859	74642414	74642815
ENSE00000706862	74634631	74634772
ENSE00000706866	74665488	74665595
ENSE00000706867	74667791	74667901
ENSE00000706868	74671789	74671901
ENSE00000803807	74660617	74660738
ENSE00000803808	74662474	74662606
ENSE00001472083	74497335	74497983
ENSE00001609820	74630282	74630367
ENSE00003710332	74685463	74693177

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 98.32.

FANTOM5 (CAGE): breadth broad, TPM avg 14.2823 / max 1807.3972, expressed in 664 samples.

Highest expression (Bgee): endothelial cell, Brodmann (1909) area 23, middle temporal gyrus, parietal lobe, postcentral gyrus.

Genetic regulation across tissues (GTEx eQTL / sQTL)

RORB is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

13 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	8.8e-17	-0.50	9:74356294:G:C
Esophagus Muscularis	eqtl	4.4e-10	+0.31	9:73529834:T:C
Cells Cultured fibroblasts	eqtl	8.5e-07	+0.20	9:74007152:C:A
Brain Spinal cord cervical c-1	eqtl	3.9e-06	+1.73	9:74475738:T:C
Brain Cerebellar Hemisphere	eqtl	9.5e-04	-0.18	9:74526035:C:T
Brain Caudate basal ganglia	eqtl	3.9e-03	-0.68	9:74623946:A:G
Adipose Visceral Omentum	eqtl	4.1e-03	-0.20	9:74579612:A:G
Esophagus Gastroesophageal Junction	eqtl	1.3e-02	+0.22	9:73498667:C:T
Brain Cerebellum	eqtl	1.6e-02	-0.19	9:74727899:C:G
Brain Frontal Cortex BA9	eqtl	1.8e-02	+0.24	9:75493785:T:C
Pancreas	eqtl	2.0e-02	-0.27	9:74722358:T:A
Colon Transverse	eqtl	3.4e-02	-0.14	9:75208214:G:A
Heart Left Ventricle	eqtl	3.9e-02	+0.41	9:73579847:C:T

FANTOM5 promoters

10 alternative TSS:

Promoter ID	TPM avg	Samples expressed
96965	11.8733	565
96964	1.2961	402
205516	0.4314	109
205517	0.3285	89
205514	0.1344	64
205515	0.1058	48
205518	0.0699	29
96967	0.0290	6
96966	0.0089	4
96968	0.0049	2

Top tissues by expression

showing 100 of 283 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.32	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.59	gold quality
middle temporal gyrus	UBERON:0002771	95.87	gold quality
parietal lobe	UBERON:0001872	95.02	gold quality
postcentral gyrus	UBERON:0002581	94.97	gold quality
pigmented layer of retina	UBERON:0001782	94.96	gold quality
primary visual cortex	UBERON:0002436	93.84	gold quality
occipital lobe	UBERON:0002021	93.25	gold quality
superior frontal gyrus	UBERON:0002661	92.94	gold quality
entorhinal cortex	UBERON:0002728	91.58	gold quality
endometrium	UBERON:0001295	89.44	gold quality
cortical plate	UBERON:0005343	89.42	gold quality
seminal vesicle	UBERON:0000998	87.97	gold quality
decidua	UBERON:0002450	85.56	silver quality
epithelium of nasopharynx	UBERON:0001951	85.12	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	82.92	gold quality
frontal cortex	UBERON:0001870	80.38	gold quality
neocortex	UBERON:0001950	79.96	gold quality
temporal lobe	UBERON:0001871	79.93	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.92	gold quality
buccal mucosa cell	CL:0002336	79.90	gold quality
cerebral cortex	UBERON:0000956	79.46	gold quality
prefrontal cortex	UBERON:0000451	79.32	gold quality
ventral tegmental area	UBERON:0002691	78.58	gold quality
telencephalon	UBERON:0001893	77.22	gold quality
right frontal lobe	UBERON:0002810	77.20	gold quality
ventricular zone	UBERON:0003053	77.12	gold quality
lower lobe of lung	UBERON:0008949	76.74	silver quality
lateral nuclear group of thalamus	UBERON:0002736	75.73	gold quality
forebrain	UBERON:0001890	75.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.11	gold quality
cingulate cortex	UBERON:0003027	74.89	gold quality
cauda epididymis	UBERON:0004360	74.73	gold quality
anterior cingulate cortex	UBERON:0009835	74.65	gold quality
superior vestibular nucleus	UBERON:0007227	73.05	gold quality
ganglionic eminence	UBERON:0004023	72.78	gold quality
dorsal plus ventral thalamus	UBERON:0001897	72.58	gold quality
caudate nucleus	UBERON:0001873	72.08	gold quality
amygdala	UBERON:0001876	72.00	gold quality
brain	UBERON:0000955	71.92	gold quality
pons	UBERON:0000988	71.78	silver quality
central nervous system	UBERON:0001017	71.39	gold quality
subthalamic nucleus	UBERON:0001906	71.18	gold quality
putamen	UBERON:0001874	71.02	gold quality
popliteal artery	UBERON:0002250	70.89	gold quality
tibial artery	UBERON:0007610	70.89	gold quality
uterus	UBERON:0000995	70.56	gold quality
mammalian vulva	UBERON:0000997	70.46	gold quality
corpus callosum	UBERON:0002336	70.07	gold quality
globus pallidus	UBERON:0001875	69.95	gold quality
germinal epithelium of ovary	UBERON:0001304	69.44	silver quality
nucleus accumbens	UBERON:0001882	69.27	gold quality
Ammon’s horn	UBERON:0001954	69.27	gold quality
medial globus pallidus	UBERON:0002477	69.18	gold quality
lateral globus pallidus	UBERON:0002476	68.86	gold quality
gingiva	UBERON:0001828	68.65	silver quality
substantia nigra pars compacta	UBERON:0001965	68.61	gold quality
gingival epithelium	UBERON:0001949	68.09	gold quality
islet of Langerhans	UBERON:0000006	67.90	gold quality
dorsal root ganglion	UBERON:0000044	67.89	gold quality
prostate gland	UBERON:0002367	67.64	gold quality
placenta	UBERON:0001987	67.45	gold quality
cerebellar vermis	UBERON:0004720	67.42	silver quality
stromal cell of endometrium	CL:0002255	67.19	gold quality
substantia nigra pars reticulata	UBERON:0001966	67.03	gold quality
cardia of stomach	UBERON:0001162	66.96	silver quality
medulla oblongata	UBERON:0001896	66.80	gold quality
hypothalamus	UBERON:0001898	66.24	gold quality
gall bladder	UBERON:0002110	66.17	gold quality
inferior vagus X ganglion	UBERON:0005363	66.07	silver quality
midbrain	UBERON:0001891	65.99	gold quality
pericardium	UBERON:0002407	65.90	silver quality
saphenous vein	UBERON:0007318	65.89	gold quality
right adrenal gland cortex	UBERON:0035827	65.53	gold quality
trigeminal ganglion	UBERON:0001675	65.42	silver quality
superior surface of tongue	UBERON:0007371	65.40	gold quality
substantia nigra	UBERON:0002038	65.05	gold quality
right adrenal gland	UBERON:0001233	64.98	gold quality
parietal pleura	UBERON:0002400	64.72	gold quality
pharyngeal mucosa	UBERON:0000355	64.71	silver quality
left adrenal gland	UBERON:0001234	64.64	gold quality
adrenal cortex	UBERON:0001235	64.57	gold quality
vena cava	UBERON:0004087	64.51	gold quality
adenohypophysis	UBERON:0002196	63.98	gold quality
adrenal gland	UBERON:0002369	63.89	gold quality
left adrenal gland cortex	UBERON:0035825	63.73	gold quality
tongue	UBERON:0001723	63.72	gold quality
embryo	UBERON:0000922	63.18	gold quality
endocervix	UBERON:0000458	63.00	gold quality
pleura	UBERON:0000977	62.92	silver quality
body of tongue	UBERON:0011876	62.72	gold quality
renal medulla	UBERON:0000362	62.61	gold quality
penis	UBERON:0000989	62.48	gold quality
trachea	UBERON:0003126	62.31	gold quality
nipple	UBERON:0002030	62.29	gold quality
urinary bladder	UBERON:0001255	61.64	gold quality
pituitary gland	UBERON:0000007	61.38	gold quality
female reproductive system	UBERON:0000474	61.28	gold quality
cardiac ventricle	UBERON:0002082	61.27	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	900.97
E-HCAD-25	yes	692.05
E-HCAD-5	yes	459.00
E-MTAB-10287	yes	121.20
E-GEOD-137537	yes	8.10
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enriched

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Cerebral cortex	tissue	60.9	high
Occipital cortex	tissue	60.9
Somatosensory cortex	tissue	57.1
Postcentral gyrus	tissue	55.6
Retina	tissue	51.5
Thalamus	tissue	45.3
Spinal cord	tissue	44.6
Prefrontal cortex	tissue	44.0
Hippocampal formation	tissue	43.3
Entorhinal cortex	tissue	43.3
Retrosplenial and cingulate cortex	tissue	41.3
Hypothalamus	tissue	39.3
Motor cortex	tissue	38.1
Midbrain	tissue	38.0
Medulla oblongata	tissue	37.8
Temporal cortex	tissue	37.0
Pons	tissue	35.3
Superior colliculi	tissue	33.4
Insular cortex	tissue	32.6
Periaqueductal gray	tissue	31.9
Retrosplenial cortex	tissue	30.8
Putamen	tissue	27.9
Amygdala	tissue	27.0
Basal ganglia	tissue	26.4	high
Substantia nigra	tissue	26.4
Septum	tissue	26.1
Ventral forebrain	tissue	23.7
Olfactory bulb	tissue	14.0
Nucleus accumbens	tissue	13.8
Corpus callosum	tissue	11.5
Frontal cortex	tissue	10.2
Hippocampus	tissue	9.7	medium
Cerebellum	tissue	9.4	medium
Cervix	tissue	9.2	low
Locus coeruleus	tissue	6.8
Seminal vesicle	tissue	4.7	medium
Prostate	tissue	4.3	not detected
Caudate putamen	tissue	4.2
Endometrium 1	tissue	3.7	medium
Adrenal gland	tissue	3.2	medium
Choroid plexus	tissue	1.9
Placenta	tissue	1.9	low
Gallbladder	tissue	1.6	medium
Pituitary gland	tissue	1.5
Heart muscle	tissue	1.5	medium
Adipose tissue	tissue	1.1	low
Vagina	tissue	0.7	low
Urinary bladder	tissue	0.6	medium
Testis	tissue	0.5	medium
Lung	tissue	0.5	medium
Kidney	tissue	0.5	medium
Esophagus	tissue	0.4	medium
Thymus	tissue	0.4
Stomach 1	tissue	0.3	medium
Rectum	tissue	0.3	medium
Parathyroid gland	tissue	0.3	medium
Smooth muscle	tissue	0.3	medium
Tonsil	tissue	0.3	low
Skin 1	tissue	0.2	low
Colon	tissue	0.2	medium

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Transversal temporal gyrus, anterior (53.8), Transversal temporal gyrus, posterior (52.7), Area striata (52.4), Postcentral gyrus, middle (49.2), Temporo-occipital transitional zone (46.7).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets:

Target	Regulation
BMAL1	Unknown
KCNQ5
NAMPT
NRL
OPN1MW	Activation
OPN1SW	Activation
RORB

JASPAR motifs

Motif	Name	Family
MA1150.1	RORB	Thyroid hormone receptor-related factors (NR1)
MA1150.2	RORB	Thyroid hormone receptor-related factors (NR1)

JASPAR matrix evidence (PMIDs): PMID:25500868

Upstream regulators (CollecTRI, top): RORB

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.257, missense Z 3.67 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000376896 splits into 4 regions with different missense tolerance; 2 are missense-constrained (≈42% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
9:74,497,977–74,642,468	37 / 116.4	0.32	yes (p 1.9e-13)
9:74,642,469–74,660,626	134 / 156.2	0.86	no
9:74,660,627–74,665,532	40 / 116.9	0.34	yes (p 1.1e-12)
9:74,665,533–74,685,615	109 / 171.0	0.64	no
ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 10)

• In the suprachiasmatic nucleus, ROR beta mRNA signals showed a peak at early daytime and a trough at early nighttime. ROR beta is a transcription factor possibly related to the circadian pacemaking system. (PMID:11849752)
• these data demonstrate that Rorbeta regulates known osteogenic pathways, and may represent a novel therapeutic target for age-associated bone loss. (PMID:24125721)
• associations between NR1D1, RORA and RORB genes and bipolar disorder.( (PMID:25789810)
• Retinoic acid-related orphan receptor RORbeta, circadian rhythm abnormalities and tumorigenesis (PMID:25816151)
• Nonsense variant in RORB was identified in four family members with epilepsy. Two de novo RORB deletions identified in patients with behavioral and cognitive impairment and epilepsy. (PMID:27352968)
• Results show that NRIP2 regulates the activity of the Wnt pathway via RORbeta. RORbeta inhibits tumorigenesis and the self-renewal of cancer initiating cells (CCICs) and targets HBP1 in regulating Wnt pathway to inhibit tumorigenesis and the self-renewal of CCICs. (PMID:28137278)
• Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. (PMID:32162308)
• RORbeta suppresses the stemness of gastric cancer cells by downregulating the activity of the Wnt signaling pathway. (PMID:34278502)
• Comprehensive analysis of the prognosis and biological significance of RORbeta in head and neck squamous cell carcinoma. (PMID:37278231)
• RORB, an Alzheimer’s disease susceptibility gene, is associated with viral encephalitis, an Alzheimer’s disease risk factor. (PMID:37734269)

Cross-species orthologs

188 orthologs

Organism	Symbol	Gene ID
danio_rerio	rorb	ENSDARG00000033498
mus_musculus	Rorb	ENSMUSG00000036192
rattus_norvegicus	Rorb	ENSRNOG00000013413
drosophila_melanogaster	EcR	FBGN0000546
drosophila_melanogaster	Hr96	FBGN0015240
caenorhabditis_elegans		WBGENE00001062
caenorhabditis_elegans	nhr-2	WBGENE00003601
caenorhabditis_elegans		WBGENE00003608
caenorhabditis_elegans		WBGENE00003611
caenorhabditis_elegans		WBGENE00003614
caenorhabditis_elegans		WBGENE00003615
caenorhabditis_elegans		WBGENE00003617
caenorhabditis_elegans		WBGENE00003618
caenorhabditis_elegans		WBGENE00003620
caenorhabditis_elegans	nhr-23	WBGENE00003622
caenorhabditis_elegans		WBGENE00003624
caenorhabditis_elegans		WBGENE00003632
caenorhabditis_elegans		WBGENE00003634
caenorhabditis_elegans		WBGENE00003638
caenorhabditis_elegans		WBGENE00003640
caenorhabditis_elegans		WBGENE00003641
caenorhabditis_elegans		WBGENE00003642
caenorhabditis_elegans		WBGENE00003643
caenorhabditis_elegans		WBGENE00003644
caenorhabditis_elegans		WBGENE00003645
caenorhabditis_elegans		WBGENE00003646
caenorhabditis_elegans		WBGENE00003648
caenorhabditis_elegans		WBGENE00003649
caenorhabditis_elegans		WBGENE00003651
caenorhabditis_elegans		WBGENE00003653
caenorhabditis_elegans		WBGENE00003655
caenorhabditis_elegans		WBGENE00003658
caenorhabditis_elegans		WBGENE00003660
caenorhabditis_elegans		WBGENE00003662
caenorhabditis_elegans	nhr-73	WBGENE00003663
caenorhabditis_elegans	nhr-77	WBGENE00003667
caenorhabditis_elegans		WBGENE00003669
caenorhabditis_elegans	nhr-81	WBGENE00003671
caenorhabditis_elegans	nhr-82	WBGENE00003672
caenorhabditis_elegans		WBGENE00003676
caenorhabditis_elegans		WBGENE00003677
caenorhabditis_elegans		WBGENE00003680
caenorhabditis_elegans		WBGENE00003682
caenorhabditis_elegans		WBGENE00003684
caenorhabditis_elegans		WBGENE00003685
caenorhabditis_elegans		WBGENE00003686
caenorhabditis_elegans		WBGENE00003688
caenorhabditis_elegans		WBGENE00003689
caenorhabditis_elegans		WBGENE00003692
caenorhabditis_elegans		WBGENE00003693
caenorhabditis_elegans		WBGENE00003694
caenorhabditis_elegans		WBGENE00003696
caenorhabditis_elegans		WBGENE00003698
caenorhabditis_elegans		WBGENE00003699
caenorhabditis_elegans		WBGENE00003700
caenorhabditis_elegans		WBGENE00003702
caenorhabditis_elegans		WBGENE00003704
caenorhabditis_elegans		WBGENE00003705
caenorhabditis_elegans		WBGENE00003707
caenorhabditis_elegans		WBGENE00003708
caenorhabditis_elegans		WBGENE00003712
caenorhabditis_elegans		WBGENE00003713
caenorhabditis_elegans		WBGENE00003714
caenorhabditis_elegans		WBGENE00003715
caenorhabditis_elegans		WBGENE00003716
caenorhabditis_elegans		WBGENE00003717
caenorhabditis_elegans		WBGENE00003718
caenorhabditis_elegans		WBGENE00003720
caenorhabditis_elegans		WBGENE00003721
caenorhabditis_elegans		WBGENE00003722
caenorhabditis_elegans		WBGENE00003723
caenorhabditis_elegans		WBGENE00003724
caenorhabditis_elegans		WBGENE00003725
caenorhabditis_elegans		WBGENE00003728
caenorhabditis_elegans		WBGENE00004786
caenorhabditis_elegans		WBGENE00006471
caenorhabditis_elegans	unc-55	WBGENE00006790
caenorhabditis_elegans		WBGENE00007367
caenorhabditis_elegans		WBGENE00008056
caenorhabditis_elegans	nhr-165	WBGENE00008158
caenorhabditis_elegans		WBGENE00008208
caenorhabditis_elegans	nhr-169	WBGENE00008289
caenorhabditis_elegans		WBGENE00008309
caenorhabditis_elegans	nhr-174	WBGENE00008474
caenorhabditis_elegans		WBGENE00008619
caenorhabditis_elegans		WBGENE00008630
caenorhabditis_elegans		WBGENE00008778
caenorhabditis_elegans		WBGENE00008830
caenorhabditis_elegans		WBGENE00008884
caenorhabditis_elegans		WBGENE00008901
caenorhabditis_elegans	nhr-265	WBGENE00009608
caenorhabditis_elegans		WBGENE00010017
caenorhabditis_elegans		WBGENE00010180
caenorhabditis_elegans		WBGENE00010186
caenorhabditis_elegans		WBGENE00010215
caenorhabditis_elegans		WBGENE00010410
caenorhabditis_elegans		WBGENE00010600
caenorhabditis_elegans		WBGENE00010601
caenorhabditis_elegans		WBGENE00010602
caenorhabditis_elegans		WBGENE00010603
caenorhabditis_elegans		WBGENE00010604
caenorhabditis_elegans		WBGENE00011002
caenorhabditis_elegans		WBGENE00011150
caenorhabditis_elegans		WBGENE00011396
caenorhabditis_elegans		WBGENE00011520
caenorhabditis_elegans		WBGENE00011565
caenorhabditis_elegans		WBGENE00011566
caenorhabditis_elegans		WBGENE00011568
caenorhabditis_elegans	nhr-217	WBGENE00011651
caenorhabditis_elegans		WBGENE00011750
caenorhabditis_elegans		WBGENE00012050
caenorhabditis_elegans		WBGENE00012056
caenorhabditis_elegans		WBGENE00012446
caenorhabditis_elegans		WBGENE00012449
caenorhabditis_elegans		WBGENE00012596
caenorhabditis_elegans		WBGENE00012703
caenorhabditis_elegans		WBGENE00013067
caenorhabditis_elegans		WBGENE00013483
caenorhabditis_elegans	nhr-276	WBGENE00013512
caenorhabditis_elegans		WBGENE00013584
caenorhabditis_elegans		WBGENE00013940
caenorhabditis_elegans		WBGENE00014068
caenorhabditis_elegans	nhr-245	WBGENE00014189
caenorhabditis_elegans		WBGENE00014193
caenorhabditis_elegans		WBGENE00015497
caenorhabditis_elegans		WBGENE00015758
caenorhabditis_elegans		WBGENE00015897
caenorhabditis_elegans		WBGENE00015900
caenorhabditis_elegans		WBGENE00015901
caenorhabditis_elegans		WBGENE00015902
caenorhabditis_elegans		WBGENE00016091
caenorhabditis_elegans		WBGENE00016233
caenorhabditis_elegans		WBGENE00016364
caenorhabditis_elegans		WBGENE00016365
caenorhabditis_elegans		WBGENE00016366
caenorhabditis_elegans		WBGENE00016367
caenorhabditis_elegans		WBGENE00016368
caenorhabditis_elegans		WBGENE00016517
caenorhabditis_elegans		WBGENE00016772
caenorhabditis_elegans		WBGENE00016926
caenorhabditis_elegans		WBGENE00016927
caenorhabditis_elegans		WBGENE00017503
caenorhabditis_elegans		WBGENE00017512
caenorhabditis_elegans		WBGENE00017961
caenorhabditis_elegans		WBGENE00018189
caenorhabditis_elegans		WBGENE00018265
caenorhabditis_elegans		WBGENE00018266
caenorhabditis_elegans		WBGENE00018404
caenorhabditis_elegans		WBGENE00018412
caenorhabditis_elegans		WBGENE00018415
caenorhabditis_elegans		WBGENE00018539
caenorhabditis_elegans		WBGENE00018541
caenorhabditis_elegans		WBGENE00018542
caenorhabditis_elegans		WBGENE00018544
caenorhabditis_elegans		WBGENE00018545
caenorhabditis_elegans		WBGENE00018622
caenorhabditis_elegans		WBGENE00019115
caenorhabditis_elegans		WBGENE00019116
caenorhabditis_elegans		WBGENE00019741
caenorhabditis_elegans		WBGENE00019742
caenorhabditis_elegans		WBGENE00019743
caenorhabditis_elegans		WBGENE00020015
caenorhabditis_elegans		WBGENE00020062
caenorhabditis_elegans		WBGENE00020152
caenorhabditis_elegans		WBGENE00020153
caenorhabditis_elegans		WBGENE00020385
caenorhabditis_elegans		WBGENE00020460
caenorhabditis_elegans		WBGENE00020555
caenorhabditis_elegans		WBGENE00020750
caenorhabditis_elegans		WBGENE00020849
caenorhabditis_elegans		WBGENE00020850
caenorhabditis_elegans		WBGENE00020851
caenorhabditis_elegans		WBGENE00020852
caenorhabditis_elegans		WBGENE00021163
caenorhabditis_elegans		WBGENE00021522
caenorhabditis_elegans		WBGENE00021610
caenorhabditis_elegans		WBGENE00021611
caenorhabditis_elegans		WBGENE00021617
caenorhabditis_elegans		WBGENE00022097
caenorhabditis_elegans		WBGENE00022637
caenorhabditis_elegans		WBGENE00022639
caenorhabditis_elegans		WBGENE00022640
caenorhabditis_elegans		WBGENE00022726
caenorhabditis_elegans		WBGENE00022756
caenorhabditis_elegans		WBGENE00022805
caenorhabditis_elegans		WBGENE00044353
caenorhabditis_elegans		WBGENE00044699
caenorhabditis_elegans		WBGENE00045515

Paralogs (18): NR1H4 (ENSG00000012504), NR1H3 (ENSG00000025434), RORA (ENSG00000069667), RARB (ENSG00000077092), VDR (ENSG00000111424), PPARD (ENSG00000112033), THRA (ENSG00000126351), NR1D1 (ENSG00000126368), NR1H2 (ENSG00000131408), RARA (ENSG00000131759), PPARG (ENSG00000132170), NR1I3 (ENSG00000143257), RORC (ENSG00000143365), NR1I2 (ENSG00000144852), THRB (ENSG00000151090), RARG (ENSG00000172819), NR1D2 (ENSG00000174738), PPARA (ENSG00000186951)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1343464) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 43 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal gait	6
limb grasping	3
disorganized retina layers	2
impaired limb coordination	2
abnormal retina inner plexiform layer morphology	2
absent amacrine cells	2
absent retina horizontal cells	2
disorganized retina outer plexiform layer	2
abnormal retina cone cell morphology	1
decreased body size	1
abnormal retina morphology	1
retina degeneration	1
impaired coordination	1
decreased exploration in new environment	1
male infertility	1
abnormal learning/memory/conditioning	1
abnormal motor capabilities/coordination/movement	1
abnormal social/conspecific interaction behavior	1
abnormal sexual interaction	1
abnormal neuron morphology	1
increased retina ganglion cell number	1
abnormal photoreceptor outer segment morphology	1
abnormal photoreceptor inner segment morphology	1
abnormal rod electrophysiology	1
abnormal cone electrophysiology	1

+18 more (showing top 25).

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Ovis aries	B3SV56	99.3%	Diamond
Bos taurus	Q08E02	99.3%	Diamond
Pongo abelii	Q5RAP4	99.2%	Diamond
Macaca fascicularis	Q95K90	98.8%	Diamond
Oncorhynchus mykiss	Q9W6I9	98.6%	Diamond
Sus scrofa	A0P8Z4	98.4%	Diamond
Notophthalmus viridescens	P18515	97.4%	Diamond
Gallus gallus	O42101	97.2%	Diamond
Xenopus laevis	P70033	97.0%	Diamond
Xenopus tropicalis	Q66JK1	97.0%	Diamond
Equus caballus	Q9GKL2	96.5%	Diamond
Callorhinus ursinus	P62044	95.4%	Diamond
Pusa sibirica	P62045	95.4%	Diamond
Drosophila virilis	O16845	94.9%	Diamond
Galleria mellonella	P49868	89.6%	Diamond
Manduca sexta	Q08882	89.6%	Diamond
Cavia porcellus	O35507	88.9%	Diamond
Oryzias latipes	Q9YGL3	85.1%	Diamond
Notamacropus eugenii	Q95L87	80.4%	Diamond
Strongylocentrotus purpuratus	Q26622	65.8%	Diamond
Metapenaeus ensis	O77245	65.3%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
RORB-AS1	ncRNA	103752585
TRPM6	protein-coding	140803
C9orf40	protein-coding	55071

Protein

Protein identifiers

Nuclear receptor ROR-beta — Q92753 (reviewed: Q92753)

Alternative names: Nuclear receptor RZR-beta, Nuclear receptor subfamily 1 group F member 2, Retinoid-related orphan receptor-beta

All UniProt accessions (3): A0A1L4FMK7, Q92753, Q58EY0

UniProt curated annotations — full annotation on UniProt →

Function. Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5’-AGGTCA-3’ preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity. Isoform 1 is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4.

Subunit / interactions. Monomer. Interacts with CRX.

Subcellular location. Nucleus. Nucleoplasm.

Disease relevance. Epilepsy, idiopathic generalized 15 (EIG15) [MIM:618357] An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG15 is characterized by onset of variable types of seizures in the first decade of life. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Domain organisation. AF-2 (activation function-2) motif is required for recruiting coregulators containing the LXXLL motif, such as NCOA1, and control the transactivational activity.

Similarity. Belongs to the nuclear hormone receptor family. NR1 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92753-2	2	yes
Q92753-1	1

RefSeq proteins (2): NP_001351952, NP_008845* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000536	Nucl_hrmn_rcpt_lig-bd	Domain
IPR001628	Znf_hrmn_rcpt	Domain
IPR001723	Nuclear_hrmn_rcpt	Family
IPR003079	ROR_rcpt	Family
IPR013088	Znf_NHR/GATA	Homologous_superfamily
IPR035500	NHR-like_dom_sf	Homologous_superfamily
IPR044101	NR_DBD_ROR	Domain

Pfam: PF00104, PF00105

UniProt features (17 total): sequence conflict 5, sequence variant 3, zinc finger region 2, chain 1, domain 1, DNA-binding region 1, region of interest 1, short sequence motif 1, compositionally biased region 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92753-F1	79.48	0.59

Human Protein Atlas

Protein class: Nuclear receptors, Predicted intracellular proteins, Transcription factors, Zinc-coordinating DNA-binding domains, Disease related genes, Human disease related genes, Epilepsy

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH uncertain · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 6; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

6 pathways:

ID	Pathway	Evidence
R-HSA-383280	Nuclear Receptor transcription pathway	curated
R-HSA-9909396	Circadian clock	—
R-HSA-9931509	Expression of BMAL (ARNTL), CLOCK, and NPAS2	electronic
R-HSA-74160	Gene expression (Transcription)	—
R-HSA-212436	Generic Transcription Pathway	—
R-HSA-73857	RNA Polymerase II Transcription	—

MSigDB gene sets: 240 (showing top): GOBP_CIRCADIAN_RHYTHM, AAGCAAT_MIR137, WWTAAGGC_UNKNOWN, GOBP_CELLULAR_RESPONSE_TO_LIPID, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_OSTEOBLAST_DIFFERENTIATION, TATTATA_MIR374, GOBP_NEUROGENESIS, HNF1_Q6, GOBP_NEURAL_RETINA_DEVELOPMENT, LHX3_01, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CHANDRAN_METASTASIS_DN, MORF_RAD51L3, GOBP_REGULATION_OF_CIRCADIAN_RHYTHM

GO Biological Process (19): DNA-templated transcription (GO:0006351), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), visual perception (GO:0007601), amacrine cell differentiation (GO:0035881), eye photoreceptor cell development (GO:0042462), regulation of circadian rhythm (GO:0042752), negative regulation of osteoblast differentiation (GO:0045668), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), retinal rod cell development (GO:0046548), retinal cone cell development (GO:0046549), rhythmic process (GO:0048511), retina development in camera-type eye (GO:0060041), cellular response to retinoic acid (GO:0071300), G protein-coupled receptor signaling pathway (GO:0007186), regulation of gene expression (GO:0010468), intracellular receptor signaling pathway (GO:0030522)

GO Molecular Function (12): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), nuclear receptor activity (GO:0004879), zinc ion binding (GO:0008270), melatonin receptor activity (GO:0008502), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

4 top-level categories:

Category	Pathways
Generic Transcription Pathway	1
Circadian clock	1
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1

GO top-level categories

57 GO namespaces:

Category	Terms
regulation of DNA-templated transcription	4
DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
gene expression	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
eye photoreceptor cell development	2
G protein-coupled receptor activity	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
cellular anatomical structure	2
RNA biosynthetic process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
sensory perception of light stimulus	1
neural retina development	1
central nervous system neuron differentiation	1
eye photoreceptor cell differentiation	1
photoreceptor cell development	1
circadian rhythm	1
regulation of biological process	1
osteoblast differentiation	1
negative regulation of cell differentiation	1
regulation of osteoblast differentiation	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
retinal rod cell differentiation	1
retinal cone cell differentiation	1
biological_process	1
camera-type eye development	1
animal gross anatomical part developmental process	1
response to retinoic acid	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
signal transduction	1
regulation of macromolecule biosynthetic process	1
intracellular signal transduction	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
intracellular receptor signaling pathway	1
signaling receptor activity	1
ligand-modulated transcription factor activity	1
transition metal ion binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
DNA binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 2 of 34 annotations. The rest are phylogenetic / computational / electronic (IEA).

2 experimentally-supported GO terms:

GO term	NS	Evidence
nucleoplasm	CC	direct assay
sequence-specific double-stranded DNA binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 1,316 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RORB	PER3	P56645	935
RORB	BMAL1	O00327	924
RORB	CRY1	Q16526	920
RORB	NPAS2	Q99743	918
RORB	PER2	O15055	913
RORB	NFIL3	Q16649	898
RORB	BHLHE41	Q9C0J9	847
RORB	BHLHE40	O14503	847
RORB	CLOCK	O15516	843
RORB	CRY2	Q49AN0	842
RORB	TIMELESS	Q9UNS1	736
RORB	CUX2	O14529	705
RORB	CSNK1E	P49674	659
RORB	FEZF2	Q8TBJ5	571
RORB	LAMP5	Q9UJQ1	566

IntAct

Human interaction partners of RORB in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
BHLHE40	physical association	0.000	1
CSNK2B	physical association	0.000	1
RORC	physical association	0.000	1

SIGNOR signaling

showing 3 of 4 signaling interactions:

A	Effect	B	Mechanism
“all-trans-retinoic acid”	“down-regulates activity”	RORB	“chemical inhibition”
RORB	“up-regulates quantity by expression”	ARNTL	“transcriptional regulation”
RORB	“up-regulates quantity by expression”	OPN1MW	“transcriptional regulation”

Ligand–receptor pairs (CellPhoneDB) (3)

Curated ligand–receptor partners (cell-cell communication), distinct from the protein–protein interactions above.

3 ligand–receptor pairs:

Partner	This gene’s role	Signaling class
ALDH1A2	receptor	Signaling by Retinoic Acid
ALDH1A1	receptor	Signaling by Retinoic Acid
ALDH1A3	receptor	Signaling by Retinoic Acid

Disease & clinical

Genetic variants

Variant evidence for RORB: 478 ClinVar records (63 pathogenic / likely pathogenic); 13 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	39
Likely pathogenic	24
Uncertain significance	218
Likely benign	136
Benign	8

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 63 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1456655	NM_006914.4(RORB):c.1114C>T (p.Arg372Ter)	Pathogenic	criteria provided, multiple submitters, no conflicts	3
225115	NM_006914.4(RORB):c.218T>C (p.Leu73Pro)	Pathogenic	criteria provided, single submitter	2
807673	NM_006914.4(RORB):c.357dup (p.Arg120fs)	Pathogenic	criteria provided, single submitter	1
1327473	NM_006914.4(RORB):c.202C>T (p.Gln68Ter)	Pathogenic	criteria provided, single submitter	1
1384338	NM_006914.4(RORB):c.673G>T (p.Glu225Ter)	Pathogenic	criteria provided, single submitter	1
1404805	NM_006914.4(RORB):c.78_79del (p.Thr26_Cys27insTer)	Pathogenic	criteria provided, single submitter	1
1413758	NM_006914.4(RORB):c.631G>T (p.Glu211Ter)	Pathogenic	criteria provided, single submitter	1
1452736	NM_006914.4(RORB):c.445del (p.Leu149fs)	Pathogenic	criteria provided, single submitter	1
1678868	NM_006914.4(RORB):c.61del (p.His21fs)	Pathogenic	criteria provided, single submitter	1
1700119	NM_006914.4(RORB):c.423T>G (p.Tyr141Ter)	Pathogenic	criteria provided, single submitter	1
2023022	NM_006914.4(RORB):c.816C>A (p.Tyr272Ter)	Pathogenic	criteria provided, single submitter	1
2028548	NM_006914.4(RORB):c.463dup (p.Tyr155fs)	Pathogenic	criteria provided, single submitter	1
2134793	NM_006914.4(RORB):c.41dup (p.Asp15fs)	Pathogenic	criteria provided, single submitter	1
2501689	NM_006914.4(RORB):c.1069del (p.Glu357fs)	Pathogenic	criteria provided, single submitter	1
2662614	NM_006914.4(RORB):c.566del (p.Val189fs)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore RORB’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 1,097):

Position(s)	Effect	Δscore	Sites
9:74497984–74497985	donor_loss	1.0000	4
9:74630280–74630281	acceptor_loss	1.0000	6
9:74634629	acceptor_gain	1.0000
9:74642408	acceptor_gain	1.0000
9:74642816–74642817	donor_loss	1.0000	5
9:74660614	acceptor_gain	1.0000
9:74660615–74660616	acceptor_loss	1.0000	6
9:74662472	acceptor_gain	1.0000
9:74662472–74662473	acceptor_loss	1.0000	5
9:74662607–74662608	donor_loss	1.0000	5

AlphaMissense

1,438 missense substitutions predicted likely pathogenic (of 3,046 scored), across 313 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M86	9	0.999	1.000
M96	9	0.996	1.000
M318	9	0.855	0.995
H32	8	1.000	1.000
D26	8	0.999	1.000
F44	8	0.999	1.000
N71	8	0.999	1.000
D301	8	0.999	1.000
F45	8	0.998	1.000
D89	8	0.998	1.000
F93	8	0.997	1.000
F294	8	0.996	1.000
D66	8	0.995	0.999
S48	8	0.993	1.000
D102	8	0.989	0.999
H434	8	0.987	0.998
F341	8	0.984	0.999
F461	8	0.981	0.998
F453	8	0.978	0.998
F287	8	0.970	1.000

HPA cancer prognostics

RNA cancer specificity: Group enriched (Glioblastoma Multiforme, Prostate Adenocarcinoma)

Disease associations

OMIM: gene MIM:601972 | disease phenotypes: MIM:618357

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
epilepsy, idiopathic generalized, susceptibility to, 15	Strong	Autosomal dominant	3
complex neurodevelopmental disorder	Moderate	Autosomal dominant

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Definitive	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (4 panels, 4 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

4 panels:

Panel	Rating
DDG2P	green
Early onset or syndromic epilepsy	green
Paediatric disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green

Mondo (3): epilepsy, idiopathic generalized, susceptibility to, 15 (MONDO:0032699), epilepsy (MONDO:0005027), complex neurodevelopmental disorder (MONDO:0100038)

HPO phenotypes

15 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000708	Atypical behavior
HP:0000718	Aggressive behavior
HP:0000750	Delayed speech and language development
HP:0000992	Cutaneous photosensitivity
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001336	Myoclonus
HP:0002069	Bilateral tonic-clonic seizure
HP:0002121	Generalized non-motor (absence) seizure
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003829	Typified by incomplete penetrance
HP:0011463	Childhood onset
HP:0025097	Eyelid myoclonus

GWAS associations

13 associations:

Study	Trait	p-value
GCST010002_298	Refractive error	6e-36
GCST006976_53	Macular thickness	3e-13
GCST007576_164	Chronotype	1e-12
GCST006291_22	Spherical equivalent or myopia (age of diagnosis)	1e-11
GCST90002387_98	Immature fraction of reticulocytes	2e-10
GCST003219_26	Advanced age-related macular degeneration	3e-9
GCST007328_75	Alcohol consumption (drinks per week)	3e-8
GCST001858_13	Refractive error	4e-8
GCST012401_74	Hyperopia	8e-8
GCST012400_98	Low myopia vs hyperopia	4e-7
GCST007830_3	Anti-thyroid peroxidase (TPOAb) levels in Hashimoto’s thyroiditis	1e-6
GCST007851_6	Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto’s thyroiditis	5e-6
GCST001524_7	Visceral adipose tissue/subcutaneous adipose tissue ratio	9e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0004767	visceral:subcutaneous adipose tissue ratio
EFO:1001492	atrophic macular degeneration
EFO:0004847	age at onset
EFO:0008328	chronotype measurement

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D004827	Epilepsy	C10.228.140.490

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3091268 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 196,754 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

2 molecules by phase:

Molecule	Name	Phase	Patents
CHEMBL38	TRETINOIN	4	195,980
CHEMBL4472508	CINTIRORGON	1	774

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

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

Target class: nhr — 1F. Retinoic acid-related orphans

Most potent curated ligand interactions (3 total), top 3:

Ligand	Action	Affinity	Parameter
ALRT 1550	Antagonist	10.4	pIC50
CD2314	Agonist	6.84	pKd
all-trans-4-oxo-retinoic acid	Antagonist	6.1	pKi

Binding affinities (BindingDB)

234 measured of 394 human assays (395 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
3-[[5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	0.43 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-N-(oxan-4-yl)-1,3-thiazole-2-carboxamide	IC50	1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
N-(3-amino-2,2-dimethyl-3-oxopropyl)-5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carboxamide	IC50	1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
3-[[5-[4-(tert-butylsulfamoyl)-5,6,7,8-tetrahydronaphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
3-[[4-(cyclohexylmethyl)-5-[3-(1-methylcyclopropyl)-5-[[(2S)-1,1,1-trifluoropropan-2-yl]carbamoyl]phenyl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
3-[[4-(cyclohexylmethyl)-5-[4-(2-methylbutan-2-ylsulfamoyl)naphthalen-1-yl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
3-[[5-[2-chloro-3-methyl-4-(2-methylbutan-2-ylsulfamoyl)phenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
trans-3-(4-(Cyclohexylmethyl-5-(4-(N-(4-fluoro-2-methylbutan-2-yl)sulfamoyl)naphthalen-1-yl)thiazole-2-carboxamido)cyclobutanecarboxylic acid	IC50	1.26 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4128427	IC50	3.4 nM
3-[[5-[4-(tert-butylsulfamoyl)-2-(difluoromethoxy)-3-methylphenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	3.98 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
5-[4-[(1-cyanocyclopropyl)sulfamoyl]naphthalen-1-yl]-4-(cyclohexylmethyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide	IC50	3.98 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-N-[(1,1-dioxothietan-3-yl)methyl]-1,3-thiazole-2-carboxamide	IC50	3.98 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
N-tert-butyl-4-[4-(cyclohexylmethyl)-2-(2,2-dioxo-2lambda6-thia-6-azaspiro[3.3]heptane-6-carbonyl)-1,3-thiazol-5-yl]naphthalene-1-sulfonamide	IC50	7.94 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
4-(cyclopropylmethyl)-N-(2-hydroxy-2-methylpropyl)-5-[4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]naphthalen-1-yl]-1,3-thiazole-2-carboxamide	IC50	7.94 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-N-(2-morpholin-4-ylethyl)-1,3-thiazole-2-carboxamide	IC50	10 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
3-[[5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]bicyclo[1.1.1]pentane-1-carboxylic acid	IC50	10 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
5-[1-(tert-butylsulfamoyl)isoquinolin-4-yl]-4-(cyclohexylmethyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide	IC50	10 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
4-tert-butyl-5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-N-(1,1-dioxothian-4-yl)-1,3-thiazole-2-carboxamide	IC50	10 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
N-tert-butyl-4-[4-(cyclohexylmethyl)-2-(7,7-dioxo-7lambda6-thia-2-azaspiro[3.5]nonane-2-carbonyl)-1,3-thiazol-5-yl]naphthalene-1-sulfonamide	IC50	10 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4130294	IC50	13 nM
CHEMBL4292343	IC50	15 nM
CHEMBL4129790	IC50	16 nM
3-[[5-[1-(tert-butylsulfamoyl)isoquinolin-4-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	20 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
3-[[4-(cyclohexylmethyl)-5-[4-[(4-hydroxy-2-methylbutan-2-yl)sulfamoyl]naphthalen-1-yl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	20 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
4-(cyclobutylmethyl)-5-[2-(difluoromethyl)-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide	IC50	25.1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4289114	IC50	26 nM
3-[[5-[3-(tert-butylcarbamoyl)-5-(1-methylcyclopropyl)phenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	31.6 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4284016	IC50	34 nM
CHEMBL4276720	IC50	40 nM
N-tert-butyl-2,3-dichloro-4-[4-(cyclohexylmethyl)-2-(2,2-dioxo-2lambda6-thia-6-azaspiro[3.3]heptane-6-carbonyl)-1,3-thiazol-5-yl]benzenesulfonamide	IC50	50.1 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4126690	IC50	53 nM
CHEMBL4226645	IC50	63 nM
CHEMBL4284644	IC50	87 nM
CHEMBL4225823	IC50	90 nM
CHEMBL4286904	IC50	90 nM
CHEMBL4293341	IC50	90 nM
CHEMBL4288028	IC50	94 nM
2-[1-[5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]azetidin-3-yl]-2-methylpropanoic acid	IC50	100 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4226392	IC50	110 nM
CHEMBL4225808	IC50	110 nM
CHEMBL4127926	IC50	119 nM
CHEMBL4227190	IC50	120 nM
3-[[5-[4-(tert-butylsulfamoyl)-2,3-dichlorophenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	IC50	126 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4228640	IC50	130 nM
CHEMBL4281271	IC50	130 nM
CHEMBL4227927	IC50	140 nM
3-[5-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,3-thiazol-2-yl]-2,2-dimethylpropanoic acid	IC50	148 nM	US-10080744: Thiazoles as modulators of RORγt
5-[4-(tert-butylsulfamoyl)-3-chloro-2-(difluoromethyl)phenyl]-4-(cyclohexylmethyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide	IC50	158 nM	US-10301272: Carboxamide or sulfonamide substituted thiazoles and related derivatives as modulators for the orphan nuclear receptor ROR[γ]
CHEMBL4225264	IC50	160 nM
CHEMBL4227867	IC50	160 nM

ChEMBL bioactivities

237 potent at pChembl≥5 of 291 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.82	IC50	0.15	nM	TRETINOIN
8.48	Kd	3.3	nM	CHEMBL4129790
8.47	IC50	3.4	nM	CHEMBL4128427
8.33	Kd	4.7	nM	CHEMBL4130294
8.04	Kd	9.1	nM	CHEMBL4128427
8.00	Kd	10	nM	CHEMBL4126690
7.89	IC50	13	nM	CHEMBL4130294
7.89	Kd	13	nM	CHEMBL4128042
7.82	IC50	15	nM	CHEMBL4292343
7.80	IC50	16	nM	CHEMBL4129790
7.80	IC50	16	nM	CHEMBL4632490
7.75	Kd	18	nM	CHEMBL4126534
7.58	IC50	26	nM	CHEMBL4289114
7.47	IC50	34	nM	CHEMBL4284016
7.40	IC50	40	nM	CHEMBL4276720
7.37	Kd	43	nM	CHEMBL4127926
7.30	IC50	50	nM	CHEMBL4649210
7.28	IC50	53	nM	CHEMBL4126690
7.23	IC50	59	nM	CHEMBL4225808
7.21	Kd	62	nM	CHEMBL4642674
7.20	IC50	63.1	nM	CHEMBL3105681
7.20	IC50	63	nM	CHEMBL4226645
7.19	IC50	64	nM	CHEMBL3105681
7.12	IC50	76	nM	CHEMBL4291888
7.10	IC50	79.43	nM	CHEMBL3105681
7.08	IC50	83	nM	CHEMBL4128042
7.07	Kd	86	nM	CHEMBL4127282
7.06	IC50	87	nM	CHEMBL4284644
7.05	IC50	90	nM	CHEMBL4225823
7.05	IC50	90	nM	CHEMBL4293341
7.05	IC50	90	nM	CHEMBL4286904
7.03	IC50	94	nM	CHEMBL4288028
6.96	IC50	110	nM	CHEMBL4226392
6.94	IC50	115	nM	CHEMBL4126534
6.94	Kd	115	nM	CHEMBL4647899
6.92	IC50	119	nM	CHEMBL4127926
6.92	IC50	120	nM	CHEMBL4227190
6.90	IC50	125.9	nM	TRETINOIN
6.89	IC50	130	nM	CHEMBL4228640
6.89	IC50	130	nM	CHEMBL4281271
6.85	IC50	140	nM	CHEMBL4227927
6.83	IC50	148	nM	CHEMBL4645288
6.82	Ki	151	nM	CHEMBL5902122
6.81	IC50	154	nM	CHEMBL4126366
6.80	IC50	160	nM	CHEMBL4225264
6.80	IC50	160	nM	CHEMBL4227867
6.79	IC50	164	nM	CHEMBL4128926
6.79	IC50	163	nM	CHEMBL4128262
6.75	IC50	176	nM	CHEMBL4130137
6.75	IC50	180	nM	CHEMBL4290788

PubChem BioAssay actives

226 with measured affinity, of 621 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
3-[[4-(cyclohexylmethyl)-5-[3-(1-methylcyclopropyl)-5-[[(2S)-1,1,1-trifluorobutan-2-yl]carbamoyl]phenyl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.0033	uM
3-[[5-[3-tert-butyl-5-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494616: Inverse agonist activity at human GAL4 DBD-fused RORbeta LBD (201 to 452 residues) expressed in HEK293T cells assessed as reduction in ROR mediated transcriptional activity after 24 hrs by dual glo luciferase reporter gene assay	ic50	0.0034	uM
5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-N-[(4-ethylsulfonylphenyl)methyl]-1,3-thiazole-2-carboxamide	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.0047	uM
3-[[5-[3-tert-butyl-5-(1,1,1,3,3,3-hexafluoro-2-hydroxypropan-2-yl)phenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.0100	uM
[5-amino-3-(3,5-dichlorophenyl)thiophen-2-yl]-(2-chlorophenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0100	uM
3-[[4-(cyclohexylmethyl)-5-[3-(1-methylcyclopropyl)-5-[[(2S)-1,1,1-trifluoropropan-2-yl]carbamoyl]phenyl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.0130	uM
[3-(3-bromo-5-propan-2-yloxyphenyl)thiophen-2-yl]-(2-chlorophenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0150	uM
3-[5-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,3,4-thiadiazol-2-yl]-2,2-dimethylpropanoic acid	1662537: Binding affinity to recombinant human RORbeta transfected in human HEK293T cells incubated for 24 hrs by dual-glo luciferase reporter gene assay	ic50	0.0160	uM
3-[[5-[3-(tert-butylcarbamoyl)-5-(1-methylcyclopropyl)phenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.0180	uM
[4-[3-bromo-5-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-(2-chlorophenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0260	uM
(2-chlorophenyl)-[4-[3-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0340	uM
[5-amino-3-[3-(trifluoromethyl)phenyl]thiophen-2-yl]-(2-chlorophenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0400	uM
3-[[5-[3-tert-butyl-5-[[(2S)-1,1,1-trifluoropropan-2-yl]carbamoyl]phenyl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.0430	uM
3-[6-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]pyrimidin-4-yl]-2,2-dimethylpropanoic acid	1662537: Binding affinity to recombinant human RORbeta transfected in human HEK293T cells incubated for 24 hrs by dual-glo luciferase reporter gene assay	ic50	0.0500	uM
N-[5-(2-chlorobenzoyl)-4-(2-chlorophenyl)-1,3-thiazol-2-yl]-2-(4-ethylsulfonylphenyl)acetamide	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.0590	uM
3-[5-[5-[2-(difluoromethyl)-3-fluoro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-[(3,3-difluoropiperidin-1-yl)methyl]-1,3-thiazol-2-yl]-1,3,4-oxadiazol-2-yl]-2,2-dimethylpropanoic acid	1662569: Binding affinity to RORbeta (unknown origin) assessed as dissociation constant by thermal shift binding assay	kd	0.0620	uM
[2-amino-4-[3-bromo-5-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-(2-chlorophenyl)methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.0630	uM
N-[5-(2-chlorobenzoyl)-4-(3-chlorophenyl)-1,3-thiazol-2-yl]-2-(4-ethylsulfonylphenyl)acetamide	1168691: Inverse agonist activity at RORbeta (unknown origin) by M1H assay	ic50	0.0631	uM
[5-amino-3-[3-(trifluoromethyl)phenyl]thiophen-2-yl]-(2-methoxyphenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0760	uM
3-[[4-(cyclohexylmethyl)-5-[4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]naphthalen-1-yl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.0860	uM
(2-chlorophenyl)-[3-(2-chloro-4-pyridinyl)thiophen-2-yl]methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0870	uM
[2-amino-4-[3-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-[2-(trifluoromethyl)phenyl]methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.0900	uM
[4-amino-2-[3-(trifluoromethyl)phenyl]phenyl]-(2-chlorophenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0900	uM
(2-chlorophenyl)-(3-naphthalen-1-ylthiophen-2-yl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0900	uM
(2-methoxyphenyl)-[4-[3-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.0940	uM
[2-amino-4-[3-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-(2-bromophenyl)methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.1100	uM
3-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluorobutan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-2,2-dimethylpropanoic acid	1662569: Binding affinity to RORbeta (unknown origin) assessed as dissociation constant by thermal shift binding assay	kd	0.1150	uM
[2-amino-4-[4-chloro-3-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-(2-chlorophenyl)methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.1200	uM
tretinoin	1168691: Inverse agonist activity at RORbeta (unknown origin) by M1H assay	ic50	0.1259	uM
[2-amino-4-[3-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-[2-fluoro-6-(trifluoromethyl)phenyl]methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.1300	uM
[5-amino-3-(3-chlorophenyl)thiophen-2-yl]-(2-methoxyphenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.1300	uM
[2-amino-4-[3-chloro-5-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-(2-chlorophenyl)methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.1400	uM
3-[5-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,3-thiazol-2-yl]-2,2-dimethylpropanoic acid	1662537: Binding affinity to recombinant human RORbeta transfected in human HEK293T cells incubated for 24 hrs by dual-glo luciferase reporter gene assay	ic50	0.1480	uM
3-[[5-[4-(tert-butylsulfamoyl)-5,6,7,8-tetrahydronaphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494616: Inverse agonist activity at human GAL4 DBD-fused RORbeta LBD (201 to 452 residues) expressed in HEK293T cells assessed as reduction in ROR mediated transcriptional activity after 24 hrs by dual glo luciferase reporter gene assay	ic50	0.1540	uM
[2-amino-4-[4-chloro-3-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-(2-methoxyphenyl)methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.1600	uM
[2-amino-4-[3-bromo-5-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]-(2-methoxyphenyl)methanone	1390733: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) at after 1 hr by scintillation proximity assay	ic50	0.1600	uM
5-[4-[(1-cyanocyclopropyl)sulfamoyl]naphthalen-1-yl]-4-(cyclohexylmethyl)-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide	1494616: Inverse agonist activity at human GAL4 DBD-fused RORbeta LBD (201 to 452 residues) expressed in HEK293T cells assessed as reduction in ROR mediated transcriptional activity after 24 hrs by dual glo luciferase reporter gene assay	ic50	0.1630	uM
3-[[5-[4-(tert-butylsulfamoyl)naphthalen-1-yl]-4-(cyclohexylmethyl)-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494616: Inverse agonist activity at human GAL4 DBD-fused RORbeta LBD (201 to 452 residues) expressed in HEK293T cells assessed as reduction in ROR mediated transcriptional activity after 24 hrs by dual glo luciferase reporter gene assay	ic50	0.1640	uM
4-[(3,3-difluorocyclobutyl)methyl]-N-(2-hydroxy-2-methylpropyl)-5-[4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]naphthalen-1-yl]-1,3-thiazole-2-carboxamide	1494616: Inverse agonist activity at human GAL4 DBD-fused RORbeta LBD (201 to 452 residues) expressed in HEK293T cells assessed as reduction in ROR mediated transcriptional activity after 24 hrs by dual glo luciferase reporter gene assay	ic50	0.1760	uM
(2-chlorophenyl)-[2-[3-(trifluoromethyl)phenyl]phenyl]methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.1800	uM
[3-(3-chlorophenyl)thiophen-2-yl]-(2-methoxyphenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.1800	uM
5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-4-[(4-fluorophenyl)methyl]-N-(2-hydroxy-2-methylpropyl)-1,3-thiazole-2-carboxamide	1494616: Inverse agonist activity at human GAL4 DBD-fused RORbeta LBD (201 to 452 residues) expressed in HEK293T cells assessed as reduction in ROR mediated transcriptional activity after 24 hrs by dual glo luciferase reporter gene assay	ic50	0.1840	uM
3-[3-[4-(cyclobutylmethyl)-5-[2,3-dichloro-4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]phenyl]-1,3-thiazol-2-yl]-1,2-oxazol-5-yl]-2,2-dimethylpropanoic acid	1662537: Binding affinity to recombinant human RORbeta transfected in human HEK293T cells incubated for 24 hrs by dual-glo luciferase reporter gene assay	ic50	0.1890	uM
3-[[4-(cyclobutylmethyl)-5-[4-[[(2S)-1,1,1-trifluoropropan-2-yl]sulfamoyl]naphthalen-1-yl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.2000	uM
[5-amino-3-(3,5-dichlorophenyl)thiophen-2-yl]-(2-methoxyphenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.2000	uM
(2-methoxyphenyl)-[3-[3-(trifluoromethyl)phenyl]thiophen-2-yl]methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.2200	uM
[3-(2-chloro-4-pyridinyl)thiophen-2-yl]-(2-methoxyphenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.2300	uM
(2-chlorophenyl)-[3-[3-(trifluoromethyl)phenyl]thiophen-2-yl]methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.2300	uM
3-[[4-(cyclohexylmethyl)-5-[4-(2-methylbutan-2-ylsulfamoyl)naphthalen-1-yl]-1,3-thiazole-2-carbonyl]amino]cyclobutane-1-carboxylic acid	1494613: Binding affinity to recombinant human RORbeta LBD (201 to 452 residues) expressed in Escherichia coli BL21 (DE3) GOLD by 1,8-ANS dye-based thermofluor assay	kd	0.2400	uM
[5-amino-3-[3,5-bis(trifluoromethyl)phenyl]thiophen-2-yl]-(2-chlorophenyl)methanone	1420199: Displacement of [3H]-T0901317 from recombinant human His-SUMO-tagged RORbeta LBD (71 to 459 residues) expressed in Escherichia coli BL21(DE3) after 1 hr by TopCount scintillation proximity assay	ic50	0.2400	uM

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression	4
Progesterone	affects cotreatment, increases expression	3
arsenite	affects binding, decreases reaction, increases methylation	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Lipopolysaccharides	affects response to substance, affects cotreatment, decreases expression, decreases reaction, increases expression	2
Tretinoin	affects binding, decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
pirinixic acid	increases activity, affects binding, decreases expression	1
bisphenol A	increases methylation, affects cotreatment	1
trichostatin A	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
triadimefon	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
beta-methylcholine	affects expression	1
tebufenozide	increases activity	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	affects expression, affects reaction, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	decreases expression	1
bisphenol S	affects cotreatment, increases methylation	1
(+)-JQ1 compound	increases expression	1
Sevoflurane	decreases reaction, increases expression, decreases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	affects expression, affects reaction, decreases expression, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Methapyrilene	increases methylation	1
Methotrexate	increases expression	1

ChEMBL screening assays

90 unique, capped per target: 87 binding, 3 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3097486	Binding	Inverse agonist activity at GAL4-fused human RORb expressed in HEK293T cells assessed as suppression of basal transcriptional activity after 20 hrs by dual-glo luciferase reporter gene assay	Structure-based design of substituted hexafluoroisopropanol-arylsulfonamides as modulators of RORc. — *Bioorg Med Chem Lett*
CHEMBL5723472	Functional	Affinity On-target Cellular interaction: (Reporter gene assay (HEK293T cells)) EUB0001157a RORB	Affinity On-target Cellular Literature for EUbOPEN Chemogenomic Library

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4ZU	ZZUNEUi019-A	Induced pluripotent stem cell	Female
CVCL_A5W8	SEES3-1V human RORB, clone1	Embryonic stem cell	Male
CVCL_A5W9	SEES3-1V human RORB, clone2	Embryonic stem cell	Male
CVCL_A5X0	SEES3-1V human RORB, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 302 trials:

NCT	Phase	Status	Title
NCT00004637	Phase 4	COMPLETED	Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy
NCT00043914	Phase 4	COMPLETED	Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy
NCT00132223	Phase 4	UNKNOWN	Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients
NCT00133081	Phase 4	UNKNOWN	Study to Improve the Treatment of Epilepsy (SITE)
NCT00137709	Phase 4	UNKNOWN	Hormone Profiles in Adults With Newly Diagnosed Epilepsy
NCT00154076	Phase 4	COMPLETED	A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies
NCT00165828	Phase 4	TERMINATED	Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization
NCT00181116	Phase 4	COMPLETED	Levetiracetam for Benign Rolandic Epilepsy
NCT00207935	Phase 4	COMPLETED	Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population
NCT00215592	Phase 4	COMPLETED	Open Label, Zonegran (Zonisamide) In Partial Onset Seizures
NCT00266604	Phase 4	COMPLETED	A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy
NCT00288639	Phase 4	COMPLETED	Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER).
NCT00312676	Phase 4	UNKNOWN	Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote
NCT00323947	Phase 4	COMPLETED	Methylphenidate for Treating Attention Deficit Hyperactivity Disorder in Children With Both ADHD and Epilepsy
NCT00385411	Phase 4	COMPLETED	Study of Valproate in Young Patients Suffering From Epilepsy
NCT00522418	Phase 4	TERMINATED	Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients
NCT00537940	Phase 4	COMPLETED	Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures
NCT00552526	Phase 4	UNKNOWN	Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy
NCT00564915	Phase 4	COMPLETED	RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy
NCT00571155	Phase 4	COMPLETED	Trial of Levetiracetam in Patients With Primary Brain Tumors and Symptomatic Seizures Who Undergo Surgery
NCT00572195	Phase 4	COMPLETED	RNS® System LTT Study
NCT00610532	Phase 4	TERMINATED	Evaluating the Transporter Protein Inhibitor Probenecid In Patients With Epilepsy
NCT00630357	Phase 4	COMPLETED	Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy
NCT00630630	Phase 4	COMPLETED	Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy
NCT00630968	Phase 4	COMPLETED	S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00631150	Phase 4	COMPLETED	A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy
NCT00659958	Phase 4	COMPLETED	ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs
NCT00713622	Phase 4	COMPLETED	Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate
NCT00807989	Phase 4	COMPLETED	The Efficacy and Safety of Low Dose Combination of LTG and VPA Compared to CBZ Monotherapy
NCT00832884	Phase 4	COMPLETED	The Safety of Intravenous Lacosamide
NCT00869622	Phase 4	COMPLETED	Antiepileptic Drugs and Osteoporotic Prevention Trial
NCT00896987	Phase 4	COMPLETED	Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies
NCT00952081	Phase 4	COMPLETED	A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients
NCT01118455	Phase 4	TERMINATED	Trial to Assess Vagus Nerve Stimulation Therapy vs. Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures
NCT01127165	Phase 4	COMPLETED	Low and High Dose Zonisamide in Children as Monotherapy
NCT01127256	Phase 4	COMPLETED	Comparative Study of Zonisamide and Carbamazepine as an Initial Monotherapy: Efficacy and Safety Evaluation
NCT01140867	Phase 4	COMPLETED	Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy
NCT01175954	Phase 4	COMPLETED	Cognitive and Behavioral Effects of Lacosamide
NCT01229735	Phase 4	COMPLETED	Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures
NCT01244724	Phase 4	TERMINATED	Lexapro for Major Depression in Patients With Epilepsy
NCT01309074	Phase 4	WITHDRAWN	Does Pregabalin Improve Symptoms of Anxiety in Patients With Epilepsy? A Comparison With Sertraline
NCT01318408	Phase 4	COMPLETED	Levetiracetam: The Anti-Convulsant of Choice for Elderly Patients With Dementia
NCT01498822	Phase 4	COMPLETED	Levetiracetam Versus Oxcarbazepine as Monotherapy to Evaluate Efficacy and Safety in Subjects With Newly or Recently Diagnosed Partial Epilepsy
NCT01546688	Phase 4	TERMINATED	A Study to Evaluate the Safety and Tolerability and Explore the Efficacy of Zonisamide as add-on Therapy in Elderly Patients With Refractory Partial Seizures
NCT01607346	Phase 4	TERMINATED	An Open Label Study to Evaluate the Effects of Ezogabine/Retigabine Added to Existing Anti-epileptic Drug(s) on Urinary Voiding Function in Subjects With Partial Onset Seizures
NCT01627860	Phase 4	COMPLETED	First Add-on vs. Mono-therapy Study of Topiramate in Neuro-Surgical Patients
NCT01689649	Phase 4	COMPLETED	A Study to Assess Tolerability and Efficacy of Topiramate Monotherapy in Recently Diagnosed Patients With Epilepsy
NCT01713777	Phase 4	COMPLETED	Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Chronic-Dose 4-Period Replicate Design
NCT01733394	Phase 4	COMPLETED	Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Single-Dose 6-Period Replicate Design (EQUIGEN Single-Dose Study)
NCT01804322	Phase 4	COMPLETED	Standardized Educational Plan for Epilepsy Patients With Comorbidities
NCT01932502	Phase 4	UNKNOWN	Evaluation of Onfi Conversion Therapy Replacing Clonazepam in Patients With Medically Refractory Epilepsy
NCT01995825	Phase 4	COMPLETED	Lamotrigine Bioequivalence
NCT02100644	Phase 4	COMPLETED	Valproate Dose Reduction and Its Clinical Evaluation by Introducing Lamotrigine in Japanese Women With Epilepsy - Single Arm, Multicenter, and Open-label Study
NCT02178995	Phase 4	COMPLETED	Methylphenidate Treatment of Attention Deficits in Epilepsy
NCT02205931	Phase 4	UNKNOWN	Ketogenic Diet in Infants With Epilepsy (KIWE)
NCT02362373	Phase 4	COMPLETED	Women With Epilepsy: a Pilot Study of PK and PD Anti-epileptic Drug Effects in Levonorgestrel Intrauterine System Users
NCT02404168	Phase 4	COMPLETED	BEEP Follow Up: Evaluation of Repeatability of Lamotrigine Pharmacokinetics in Epileptic Patients
NCT02429596	Phase 4	UNKNOWN	A Trial of Generic Substitution of Antiepileptic Drugs
NCT02633241	Phase 4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT02645279	Phase 4	UNKNOWN	Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for RORB across ~30M SureChEMBL compounds — explore on Sugi Predict.