Adolescent idiopathic scoliosis

Summary

Adolescent idiopathic scoliosis (MONDO:0005488) is a disease with 43 cohort genes (1,389 GWAS associations across 12 studies) and 197 clinical trials. Top therapeutic interventions include sodium chloride, abobotulinumtoxina, and caffeine.

At a glance

• Cohort genes: 43
• GWAS associations: 1,389
• Clinical trials: 197

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	adolescent idiopathic scoliosis
Mondo ID	MONDO:0005488
EFO	EFO:0005423
Orphanet	3153
SNOMED CT	203646004
UMLS	C0410702
MedGen	450543
Is cancer (heuristic)	no

Data availability: 1,389 GWAS associations (12 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › disease of bone structure › scoliosis › idiopathic scoliosis › adolescent idiopathic scoliosis

Related subtypes (1): juvenile idiopathic scoliosis

Genetics & variants

GWAS landscape

1,389 GWAS associations across 12 studies. Top hits map to 32 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs6964752	1e-221	IQCE	?
rs41497646	1e-214	LRP1B	?
rs41337747	2e-212	RNF150	?
rs1051432	3e-212	WDR59	?
rs3007163	5e-148	TRIM9 - TMX1	?
rs41320847	1e-138	TMIGD3	?
rs3847988	4e-138	LINC00572 - LINC00544	?
rs8111296	7e-137	ZNF99 - ZNF723	?
rs6826964	7e-137	PGCKA1	?
rs41416745	6e-136	SGCZ	?
rs1175646	3e-104	CTTNBP2NL - WNT2B	?
rs9594037	4e-94	LINC00351 - SLITRK6	?
rs17754109	3e-89	RPL31P42 - CNTLN	?
rs9894591	7e-80	COX10-DT	?
rs11157436	4e-71	TRAV30	?
rs9483645	3e-70	SLC2A12 - HMGA1P7	?
rs17163154	5e-69	CHSY3-AS1, ADAMTS19	?
rs16909256	2e-57	C14orf119P1 - ZNF618	?
rs12380216	6e-56	OR7E108P	?
rs6488336	2e-55	CD163, CD163L1	?
rs8046476	1e-54	SALL1 - UNGP1	?
rs12435957	2e-53	GALNT16	?
rs2077502	2e-51	SEPTIN9 - LINC01987	?
rs6822565	2e-49	EDNRA	?
rs12596920	6e-46	LINC02188 - LINC02181	?
rs10753165	7e-46	LINC01645 - LINC01741	?
rs2881493	1e-45	MRPL42P4 - SRSF8CP	?
rs1254900	4e-45	VAMP5	?
rs10910445	7e-45	SIPA1L2	?
rs4627442	1e-44	FHOD3	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST008789	Kou I	2019	5,327	73,884	Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
GCST008788	Kou I	2019	5,004	33,679	Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.
GCST006902	Khanshour AM	2018	2,295	11,084	Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
GCST003052	Ogura Y	2015	2,109	11,140	A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
GCST004288	Zhu Z	2017	1,456	2,104	Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis.
GCST90179478	Yu H	2024	1,358	12,507	Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
GCST004981	Ogura Y	2017	1,105	0	A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.
GCST003128	Zhu Z	2015	960	1,499	Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls.
GCST002169	Miyake A	2013	554	1,474	Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
GCST002819	Sharma S	2015	371	0	A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	48

MAF distribution

Bucket	Variants
common (>=0.05)	44
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	6

Functional consequences

Consequence	Count
intron_variant	33
intergenic_variant	11
non_coding_transcript_exon_variant	4
3_prime_UTR_variant	1
stop_gained	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs6964752	7	2574148	G>A,C	0.05	intron_variant	IQCE	1e-221	Tier 4: intronic/intergenic
rs41497646	2	140908502	A>G		intron_variant	LRP1B	1e-214	Tier 4: intronic/intergenic
rs41337747	4	140899003	G>A,C,T		intron_variant	RNF150	2e-212	Tier 4: intronic/intergenic
rs1051432	16	74873752	G>C	0.05	3_prime_UTR_variant	WDR59	3e-212	Tier 2: splice/UTR
rs3007163	14	51180944	A>G,T	0.05	intron_variant	TRIM9 - TMX1	5e-148	Tier 4: intronic/intergenic
rs41320847	1	111507328	A>G		intron_variant	TMIGD3	1e-138	Tier 4: intronic/intergenic
rs3847988	13	29929140	C>A,G,T	0.05	intergenic_variant	LINC00572 - LINC00544	4e-138	Tier 4: intronic/intergenic
rs8111296	19	22823180	T>C	0.05	intergenic_variant	ZNF99 - ZNF723	7e-137	Tier 4: intronic/intergenic
rs6826964	4	37485311	C>A	0.05	intron_variant	PGCKA1	7e-137	Tier 4: intronic/intergenic
rs41416745	8	14774386	A>G,T	0.05	intron_variant	SGCZ	6e-136	Tier 4: intronic/intergenic
rs1175646	1	112465599	G>A,T	0.05	intergenic_variant	CTTNBP2NL - WNT2B	3e-104	Tier 4: intronic/intergenic
rs9594037	13	85603969	G>A	0.05	intergenic_variant	LINC00351 - SLITRK6	4e-94	Tier 4: intronic/intergenic
rs17754109	9	17130158	C>T	0.05	intergenic_variant	RPL31P42 - CNTLN	3e-89	Tier 4: intronic/intergenic
rs9894591	17	13942569	A>C,G,T	0.05	intron_variant	COX10-DT	7e-80	Tier 4: intronic/intergenic
rs11157436	14	22168978	C>A,T	0.05	stop_gained	TRAV30	4e-71	Tier 1: coding
rs9483645	6	134073198	T>A,C	0.05	intergenic_variant	SLC2A12 - HMGA1P7	3e-70	Tier 4: intronic/intergenic
rs17163154	5	129665081	A>G		intron_variant	CHSY3-AS1, ADAMTS19	5e-69	Tier 4: intronic/intergenic
rs16909256	9	113773046	G>A	0.05	intergenic_variant	C14orf119P1 - ZNF618	2e-57	Tier 4: intronic/intergenic
rs12380216	9	90751960	G>A	0.05	non_coding_transcript_exon_variant	OR7E108P	6e-56	Tier 4: intronic/intergenic
rs6488336	12	7479287	G>A	0.05	intron_variant	CD163, CD163L1	2e-55	Tier 4: intronic/intergenic
rs8046476	16	51190610	T>G		intron_variant	SALL1 - UNGP1	1e-54	Tier 4: intronic/intergenic
rs12435957	14	69307269	G>A,T	0.05	intron_variant	GALNT16	2e-53	Tier 4: intronic/intergenic
rs2077502	17	77644311	G>A,C,T	0.05	non_coding_transcript_exon_variant	SEPTIN9 - LINC01987	2e-51	Tier 4: intronic/intergenic
rs6822565	4	147516360	T>C	0.05	intron_variant	EDNRA	2e-49	Tier 4: intronic/intergenic
rs12596920	16	86833857	G>A,C,T	0.05	intergenic_variant	LINC02188 - LINC02181	6e-46	Tier 4: intronic/intergenic
rs10753165	1	177602999	T>A,C,G	0.05	intron_variant	LINC01645 - LINC01741	7e-46	Tier 4: intronic/intergenic
rs2881493	7	47038836	G>A,C,T	0.05	intron_variant	MRPL42P4 - SRSF8CP	1e-45	Tier 4: intronic/intergenic
rs1254900	2	85589211	A>G	0.05	intron_variant	VAMP5	4e-45	Tier 4: intronic/intergenic
rs10910445	1	232421037	T>A,C	0.05	intron_variant	SIPA1L2	7e-45	Tier 4: intronic/intergenic
rs4627442	18	36336269	T>G	0.05	intron_variant	FHOD3	1e-44	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 38 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SOX9	Orphanet:140	Campomelic dysplasia
SOX9	Orphanet:2138	46,XX ovotesticular difference of sex development
SOX9	Orphanet:242	46,XY complete gonadal dysgenesis
SOX9	Orphanet:251510	46,XY partial gonadal dysgenesis
SOX9	Orphanet:393	46,XX testicular difference of sex development
SOX9	Orphanet:718	Isolated Pierre Robin sequence
TBX1	Orphanet:1727	22q11.2 duplication syndrome
TBX1	Orphanet:3303	Tetralogy of Fallot
TBX1	Orphanet:567	22q11.2 deletion syndrome
TBX1	Orphanet:665044	Common arterial trunk with aortic dominance
TBX1	Orphanet:665058	Common arterial trunk with pulmonary dominance and interrupted aortic arch
TBX1	Orphanet:685017	Combined immunodeficiency due to TBX1 deficiency
LBX1	Orphanet:661	Congenital central hypoventilation syndrome
TENT5A	Orphanet:216812	Osteogenesis imperfecta type 3
CHD2	Orphanet:1942	Epilepsy with myoclonic-atonic seizures
CHD2	Orphanet:2382	Lennox-Gastaut syndrome
FTO	Orphanet:210144	Lethal polymalformative syndrome, Boissel type
TNIK	Orphanet:88616	Autosomal recessive non-syndromic intellectual disability
BNC2	Orphanet:93110	Posterior urethral valve
EYA1	Orphanet:107	BOR syndrome
EYA1	Orphanet:2792	Otofaciocervical syndrome
EYA1	Orphanet:52429	Branchiootic syndrome
FOXA2	Orphanet:95494	Combined pituitary hormone deficiencies, genetic forms
KCNJ2	Orphanet:334	Hereditary atrial fibrillation
KCNJ2	Orphanet:37553	Andersen-Tawil syndrome
KCNJ2	Orphanet:51083	Congenital short QT syndrome
ARF1	Orphanet:98892	Periventricular nodular heterotopia
PAX1	Orphanet:2792	Otofaciocervical syndrome
PAX3	Orphanet:1529	Craniofacial-deafness-hand syndrome
PAX3	Orphanet:894	Waardenburg syndrome type 1
PAX3	Orphanet:896	Waardenburg syndrome type 3
PAX3	Orphanet:99756	Alveolar rhabdomyosarcoma
BCKDHB	Orphanet:268145	Classic maple syrup urine disease
BCKDHB	Orphanet:268162	Intermediate maple syrup urine disease
BCKDHB	Orphanet:268173	Intermittent maple syrup urine disease
BCL2	Orphanet:480541	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
BCL2	Orphanet:545	Follicular lymphoma
BCL2	Orphanet:98839	Intravascular large B-cell lymphoma

Cohort genes → proteins

43 cohort genes, 37 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	43

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SOX9	HGNC:11204	ENSG00000125398	P48436	Transcription factor SOX-9	gwas
TBX1	HGNC:11592	ENSG00000184058	O43435	T-box transcription factor TBX1	gwas
ADGRG6	HGNC:13841	ENSG00000112414	Q86SQ4	Adhesion G-protein coupled receptor G6	gwas
CSMD1	HGNC:14026	ENSG00000183117	Q96PZ7	CUB and sushi domain-containing protein 1	gwas
HHIP	HGNC:14866	ENSG00000164161	Q96QV1	Hedgehog-interacting protein	gwas
SOX6	HGNC:16421	ENSG00000110693	P35712	Transcription factor SOX-6	gwas
CREB5	HGNC:16844	ENSG00000146592	Q02930	Cyclic AMP-responsive element-binding protein 5	gwas
LBX1	HGNC:16960	ENSG00000138136	P52954	Transcription factor LBX1	gwas
BOC	HGNC:17173	ENSG00000144857	Q9BWV1	Brother of CDO	gwas
CDH13	HGNC:1753	ENSG00000140945	P55290	Cadherin-13	gwas
TENT5A	HGNC:18345	ENSG00000112773	Q96IP4	Terminal nucleotidyltransferase 5A	gwas
CHD2	HGNC:1917	ENSG00000173575	O14647	ATP-dependent chromatin remodeler CHD2	gwas
KIF24	HGNC:19916	ENSG00000186638	Q5T7B8	Kinesin-like protein KIF24	gwas
NT5DC1	HGNC:21556	ENSG00000178425	Q5TFE4	5’-nucleotidase domain-containing protein 1	gwas
CNKSR3	HGNC:23034	ENSG00000153721	Q6P9H4	Connector enhancer of kinase suppressor of ras 3	gwas
MTMR11	HGNC:24307	ENSG00000014914	A4FU01	Myotubularin-related protein 11	gwas
FTO	HGNC:24678	ENSG00000140718	Q9C0B1	Alpha-ketoglutarate-dependent dioxygenase FTO	gwas
SEC16B	HGNC:30301	ENSG00000120341	Q96JE7	Protein transport protein Sec16B	gwas
TNIK	HGNC:30765	ENSG00000154310	Q9UKE5	TRAF2 and NCK-interacting protein kinase	gwas
AJAP1	HGNC:30801	ENSG00000196581	Q9UKB5	Adherens junction-associated protein 1	gwas
BNC2	HGNC:30988	ENSG00000173068	Q6ZN30	Zinc finger protein basonuclin-2	gwas
UNCX	HGNC:33194	ENSG00000164853	A6NJT0	Homeobox protein unc-4 homolog	gwas
AGMO	HGNC:33784	ENSG00000187546	Q6ZNB7	Alkylglycerol monooxygenase	gwas
EPHA4	HGNC:3388	ENSG00000116106	P54764	Ephrin type-A receptor 4	gwas
EYA1	HGNC:3519	ENSG00000104313	Q99502	Protein phosphatase EYA1	gwas
MIR4300	HGNC:38184	ENSG00000264110		microRNA 4300	gwas
MIR3974	HGNC:41672	ENSG00000283665		microRNA 3974	gwas
CNTFR-AS1	HGNC:48712	ENSG00000237159		CNTFR antisense RNA 1	gwas
FOXA2	HGNC:5022	ENSG00000125798	Q9Y261	Hepatocyte nuclear factor 3-beta	gwas
LINC01432	HGNC:50745	ENSG00000234435		long intergenic non-protein coding RNA 1432	gwas
LINC01514	HGNC:51207	ENSG00000237579		long intergenic non-protein coding RNA 1514	gwas
LINC02378	HGNC:53301	ENSG00000256994		long intergenic non-protein coding RNA 2378	gwas
KCNJ2	HGNC:6263	ENSG00000123700	P63252	Inward rectifier potassium channel 2	gwas
ARF1	HGNC:652	ENSG00000143761	P84077	ADP-ribosylation factor 1	gwas
MEIS1	HGNC:7000	ENSG00000143995	O00470	Homeobox protein Meis1	gwas
MEOX2	HGNC:7014	ENSG00000106511	P50222	Homeobox protein MOX-2	gwas
MSC	HGNC:7321	ENSG00000178860	O60682	Musculin	gwas
ABO	HGNC:79	ENSG00000175164	P16442	Histo-blood group ABO system transferase	gwas
PAX1	HGNC:8615	ENSG00000125813	P15863	Paired box protein Pax-1	gwas
PAX3	HGNC:8617	ENSG00000135903	P23760	Paired box protein Pax-3	gwas
PLXNA2	HGNC:9100	ENSG00000076356	O75051	Plexin-A2	gwas
BCKDHB	HGNC:987	ENSG00000083123	P21953	2-oxoisovalerate dehydrogenase subunit beta, mitochondrial	gwas
BCL2	HGNC:990	ENSG00000171791	P10415	Apoptosis regulator Bcl-2	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SOX9	Transcription factor SOX-9	Transcription factor that plays a key role in chondrocytes differentiation and skeletal development.
TBX1	T-box transcription factor TBX1	Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development.
ADGRG6	Adhesion G-protein coupled receptor G6	Adhesion G-protein coupled receptor (aGPCR) for steroid hormones, such as progesterone and 17alpha-hydroxyprogesterone (17OHP).
CSMD1	CUB and sushi domain-containing protein 1	Potential suppressor of squamous cell carcinomas.
HHIP	Hedgehog-interacting protein	Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family.
SOX6	Transcription factor SOX-6	Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation.
CREB5	Cyclic AMP-responsive element-binding protein 5	Binds to the cAMP response element and activates transcription.
LBX1	Transcription factor LBX1	Transcription factor required for the development of GABAergic interneurons in the dorsal horn of the spinal cord and migration and further development of hypaxial muscle precursor cells for limb muscles, diaphragm and hypoglossal cord.
BOC	Brother of CDO	Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells.
CDH13	Cadherin-13	Cadherins are calcium-dependent cell adhesion proteins.
TENT5A	Terminal nucleotidyltransferase 5A	Cytoplasmic non-canonical poly(A) RNA polymerase that catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3’-OH terminal group and participates in the cytoplasmic polyadenylation.
CHD2	ATP-dependent chromatin remodeler CHD2	ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3.
KIF24	Kinesin-like protein KIF24	Microtubule-dependent motor protein that acts as a negative regulator of ciliogenesis by mediating recruitment of CCP110 to mother centriole in cycling cells, leading to restrict nucleation of cilia at centrioles.
CNKSR3	Connector enhancer of kinase suppressor of ras 3	Involved in transepithelial sodium transport.
FTO	Alpha-ketoglutarate-dependent dioxygenase FTO	RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis.
SEC16B	Protein transport protein Sec16B	Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER).
TNIK	TRAF2 and NCK-interacting protein kinase	Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway.
AJAP1	Adherens junction-associated protein 1	Plays a role in cell adhesion and cell migration.
BNC2	Zinc finger protein basonuclin-2	Probable transcription factor specific for skin keratinocytes.
UNCX	Homeobox protein unc-4 homolog	Transcription factor involved in somitogenesis and neurogenesis.
AGMO	Alkylglycerol monooxygenase	Glyceryl-ether monooxygenase that cleaves the O-alkyl bond of ether lipids.
EPHA4	Ephrin type-A receptor 4	Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells.
EYA1	Protein phosphatase EYA1	Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5.
FOXA2	Hepatocyte nuclear factor 3-beta	Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues.
KCNJ2	Inward rectifier potassium channel 2	Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it.
ARF1	ADP-ribosylation factor 1	Small GTPase involved in protein trafficking between different compartments.
MEIS1	Homeobox protein Meis1	Acts as a transcriptional regulator of PAX6.
MEOX2	Homeobox protein MOX-2	Mesodermal transcription factor that plays a key role in somitogenesis and somitogenesis and limb muscle differentiation.
MSC	Musculin	Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47.
ABO	Histo-blood group ABO system transferase	This protein is the basis of the ABO blood group system.
PAX1	Paired box protein Pax-1	This protein is a transcriptional activator.
PAX3	Paired box protein Pax-3	Transcription factor that may regulate cell proliferation, migration and apoptosis.
PLXNA2	Plexin-A2	Coreceptor for SEMA3A and SEMA6A.
BCKDHB	2-oxoisovalerate dehydrogenase subunit beta, mitochondrial	Together with BCKDHA forms the heterotetrameric E1 subunit of the mitochondrial branched-chain alpha-ketoacid dehydrogenase (BCKD) complex.
BCL2	Apoptosis regulator Bcl-2	Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells.

Protein-family classification

Druggable: 12 · Difficult: 14 · Unknown: 17 · Druggable fraction: 0.28

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	13	2.5×	0.013
Complement	1	6.2×	0.696
Ion channel	1	2.6×	0.696
Phosphatase	1	1.9×	0.696
Antibody/Immunoglobulin	2	1.4×	0.696
Kinase	2	1.3×	0.696
Enzyme (other)	4	1.1×	0.696
Other/Unknown	17	0.7×	0.989
GPCR	1	0.6×	0.989
Scaffold/PPI	1	0.4×	0.989

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SOX9	Transcription factor	no		HMG_box_dom, Sox_N, HMG_box_dom_sf
TBX1	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
ADGRG6	GPCR	yes		GPS, GPCR_2_secretin-like, CUB_dom
CSMD1	Complement	yes		Sushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf
HHIP	Other/Unknown	no		EGF, Quinoprot_gluc/sorb_DH_b-prop, 6-blade_b-propeller_TolB-like
SOX6	Transcription factor	no		HMG_box_dom, HMG_box_dom_sf, SOX/SOX-like_TF
CREB5	Transcription factor	no		bZIP, Znf_C2H2_type, TF_CRE-BP1-typ
LBX1	Transcription factor	no		HTH_motif, HD, Homeodomain-like_sf
BOC	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
CDH13	Other/Unknown	no		Cadherin-like_dom, Cadherin_pro_dom, Cadherin-like_sf
TENT5A	Enzyme (other)	yes	2.7.7.19	TET5
CHD2	Other/Unknown	no		SNF2_N, Chromo/chromo_shadow_dom, Helicase_C-like
KIF24	Other/Unknown	no		SAM, Kinesin_motor_dom, SAM/pointed_sf
NT5DC1	Other/Unknown	no		HAD-SF_hydro_IG_5-nucl, HAD_sf, HAD-like_sf
CNKSR3	Scaffold/PPI	no		PDZ, SAM, CNK2/3_dom
MTMR11	Phosphatase	yes		Myotubularin-like_Pase_dom, MTMR12-like_C, Prot-tyrosine_phosphatase-like
FTO	Enzyme (other)	yes	1.14.11.53	FTO_C, FTO_cat_dom, FTO
SEC16B	Other/Unknown	no		Sec16_Sec23-bd, Sec16_CCD
TNIK	Kinase	yes		Prot_kinase_dom, CNH_dom, Ser/Thr_kinase_AS
AJAP1	Other/Unknown	no		AJAP1_PANP_C, AJAP1
BNC2	Transcription factor	no		Znf_C2H2_type, Disconnected-like
UNCX	Transcription factor	no		HD, Homeodomain-like_sf, Homeobox_CS
AGMO	Enzyme (other)	yes	1.14.16.5	Fatty_acid_hydroxylase, Sterol_desaturase/TMEM195, AGMP_C
EPHA4	Kinase	yes	2.7.10.1	Prot_kinase_dom, EPH_LBD, Ser-Thr/Tyr_kinase_cat_dom
EYA1	Other/Unknown	no		EYA_dom, EYA, EYA_dom_sf
MIR4300	Other/Unknown	no
MIR3974	Other/Unknown	no
CNTFR-AS1	Other/Unknown	no
FOXA2	Transcription factor	no		Fork_head_dom, Fork-head_N, TF_fork_head_CS_1
LINC01432	Other/Unknown	no
LINC01514	Other/Unknown	no
LINC02378	Other/Unknown	no
KCNJ2	Ion channel	yes		K_chnl_inward-rec_Kir2.1, K_chnl_inward-rec_Kir_cyto, K_chnl_inward-rec_Kir_N
ARF1	Other/Unknown	no		Small_GTP-bd, Small_GTPase_ARF/SAR, Small_GTPase_ARF
MEIS1	Transcription factor	no		HD, KN_HD, Homeodomain-like_sf
MEOX2	Transcription factor	no		HD, Homeodomain-like_sf, Homeobox_CS
MSC	Transcription factor	no		bHLH_dom, HLH_DNA-bd_sf, E-box_TF_Regulators
ABO	Enzyme (other)	yes	2.4.1.37	Glyco_trans_6, Nucleotide-diphossugar_trans
PAX1	Transcription factor	no		Paired_dom, Homeodomain-like_sf, WH-like_DNA-bd_sf
PAX3	Transcription factor	no		HD, Paired_dom, Homeodomain-like_sf
PLXNA2	Antibody/Immunoglobulin	yes		Semap_dom, Plexin_repeat, IPT_dom
BCKDHB	Other/Unknown	no		Transketolase-like_Pyr-bd, Transketo_C/PFOR_II, THDP-binding
BCL2	Other/Unknown	no		Bcl2-like, Bcl2_BH4, Bcl2/BclX

Expression context

Cohort genes with no expression data: 0.

35 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	1
moderate (6-20)	0
broad (>20)	42
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	8
ventricular zone	4
Brodmann (1909) area 23	3
tibia	3
calcaneal tendon	3
ileal mucosa	3
cortical plate	3
right lobe of liver	3
gastrocnemius	2
hindlimb stylopod muscle	2
muscle of leg	2
middle temporal gyrus	2
corpus callosum	2
kidney epithelium	2
blood	2
tendon of biceps brachii	2
right coronary artery	2
thoracic aorta	2
colonic epithelium	2
sural nerve	2

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SOX9	274	ubiquitous	marker	ventricular zone, cranial nerve II, hair follicle
TBX1	220	broad	marker	hindlimb stylopod muscle, gastrocnemius, muscle of leg
ADGRG6	247	ubiquitous	marker	endometrium epithelium, amniotic fluid, placenta
CSMD1	179	broad	marker	Brodmann (1909) area 23, middle temporal gyrus, primary visual cortex
HHIP	206	ubiquitous	marker	corpus callosum, endothelial cell, globus pallidus
SOX6	235	ubiquitous	marker	epithelial cell of pancreas, tibia, kidney epithelium
CREB5	252	ubiquitous	marker	synovial joint, ventricular zone, blood
LBX1	28		yes	gastrocnemius, muscle of leg, hindlimb stylopod muscle
BOC	253	ubiquitous	marker	tendon of biceps brachii, oviduct epithelium, ventricular zone
CDH13	152	ubiquitous	marker	descending thoracic aorta, right coronary artery, thoracic aorta
TENT5A	270	ubiquitous	marker	parotid gland, tibia, pericardium
CHD2	268	ubiquitous	marker	calcaneal tendon, sural nerve, colonic epithelium
KIF24	129	ubiquitous	marker	primordial germ cell in gonad, ventricular zone, male germ line stem cell (sensu Vertebrata) in testis
NT5DC1	255	ubiquitous	marker	corpus callosum, kidney epithelium, inferior vagus X ganglion
CNKSR3	242	ubiquitous	marker	esophagus squamous epithelium, pigmented layer of retina, ileal mucosa
MTMR11	205	ubiquitous	marker	mucosa of transverse colon, rectum, ileal mucosa
FTO	294	ubiquitous	marker	cortical plate, bronchial epithelial cell, Brodmann (1909) area 10
SEC16B	165	broad	yes	right lobe of liver, body of pancreas, adrenal tissue
TNIK	268	ubiquitous	marker	cortical plate, oocyte, caudate nucleus
AJAP1	178	broad	marker	orbitofrontal cortex, Brodmann (1909) area 46, Brodmann (1909) area 23
BNC2	229	ubiquitous	marker	germinal epithelium of ovary, sural nerve, parietal pleura
UNCX	24	tissue_specific	yes	cerebellum, cerebellar cortex, cerebellar hemisphere
AGMO	118	broad	marker	liver, right lobe of liver, male germ line stem cell (sensu Vertebrata) in testis
EPHA4	271	ubiquitous	marker	Brodmann (1909) area 23, frontal pole, middle temporal gyrus
EYA1	205	broad	marker	choroid plexus epithelium, urethra, mucosa of paranasal sinus
MIR4300	22		yes	intestine, monocyte, right hemisphere of cerebellum
MIR3974	5		yes	blood, monocyte, skin of leg
CNTFR-AS1	156	tissue_specific	yes	sperm, male germ line stem cell (sensu Vertebrata) in testis, right testis
FOXA2	105	broad	marker	pancreatic ductal cell, pylorus, buccal mucosa cell
LINC01432	27	tissue_specific	yes	male germ line stem cell (sensu Vertebrata) in testis, putamen, substantia nigra

Protein interactions among cohort

Intra-cohort edges: 16.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BCL2	8,343
SOX9	4,935
EPHA4	3,214
PAX3	2,960
FOXA2	2,789
MEOX2	2,779
BCKDHB	2,616
FTO	2,496
CHD2	2,392
MEIS1	2,354

Intra-cohort edges

A	B	Sources
ADGRG6	LBX1	string_interaction
AJAP1	UNCX	string_interaction
BCL2	CHD2	string_interaction
BNC2	LBX1	string_interaction
BOC	HHIP	string_interaction
EYA1	MEIS1	string_interaction
EYA1	PAX1	string_interaction
EYA1	PAX3	string_interaction
FOXA2	PAX1	string_interaction
MEOX2	PAX1	biogrid_interaction, string_interaction
MEOX2	PAX3	intact
MSC	TBX1	string_interaction
MTMR11	NT5DC1	string_interaction
MTMR11	TENT5A	string_interaction
PAX1	UNCX	string_interaction
SOX6	SOX9	string_interaction

Structural data

PDB: 20 · AlphaFold-only: 17 · No structure: 6

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ABO	P16442	151
BCL2	P10415	55
ARF1	P84077	40
FTO	Q9C0B1	28
BCKDHB	P21953	24
EPHA4	P54764	17
HHIP	Q96QV1	11
TNIK	Q9UKE5	11
BOC	Q9BWV1	3
FOXA2	Q9Y261	3
KCNJ2	P63252	3
TENT5A	Q96IP4	2
MEIS1	O00470	2
SOX9	P48436	1
TBX1	O43435	1
ADGRG6	Q86SQ4	1
CSMD1	Q96PZ7	1
CDH13	P55290	1
PAX3	P23760	1
PLXNA2	O75051	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
AGMO	Q6ZNB7	93.90
NT5DC1	Q5TFE4	88.76
MTMR11	A4FU01	74.50
LBX1	P52954	68.61
EYA1	Q99502	66.68
MSC	O60682	65.61
CNKSR3	Q6P9H4	64.67
MEOX2	P50222	61.92
CHD2	O14647	60.81
UNCX	A6NJT0	59.38
CREB5	Q02930	57.95
SOX6	P35712	56.48
SEC16B	Q96JE7	55.68
PAX1	P15863	55.21
BNC2	Q6ZN30	54.10
KIF24	Q5T7B8	52.18
AJAP1	Q9UKB5	50.22

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 144. Enrichment computed across 43 evidence-associated genes (23 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 23 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
GLI proteins bind promoters of Hh responsive genes to promote transcription	2	141.9×	0.008	HHIP, BOC
Ligand-receptor interactions	2	124.1×	0.008	HHIP, BOC
Developmental Lineage of Multipotent Pancreatic Progenitor Cells	2	52.3×	0.031	SOX9, FOXA2
Sensory perception of sour taste	1	248.3×	0.083	KCNJ2
The NLRP1 inflammasome	1	165.5×	0.083	BCL2
Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD	1	165.5×	0.083	BCKDHB
Classical Kir channels	1	124.1×	0.083	KCNJ2
BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV	1	124.1×	0.083	BCKDHB
Loss-of-function mutations in DBT cause MSUD2	1	124.1×	0.083	BCKDHB
Loss-of-function mutations in DLD cause MSUD3/DLDD	1	124.1×	0.083	BCKDHB
Developmental Lineage of Pancreatic Acinar Cells	2	26.1×	0.083	SOX9, FOXA2
Deactivation of the beta-catenin transactivating complex	2	20.3×	0.083	SOX9, SOX6
Developmental Lineage of Pancreatic Ductal Cells	2	19.9×	0.083	SOX9, FOXA2
Transcriptional and post-translational regulation of MITF-M expression and activity	2	15.5×	0.083	SOX9, PAX3
Branched-chain ketoacid dehydrogenase kinase deficiency	1	99.3×	0.090	BCKDHB
H139Hfs13* PPM1K causes a mild variant of MSUD	1	99.3×	0.090	BCKDHB
Reversal of alkylation damage by DNA dioxygenases	1	70.9×	0.106	FTO
Glycosphingolipid transport	1	62.1×	0.106	ARF1
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members	1	55.2×	0.106	BCL2
Nef Mediated CD4 Down-regulation	1	55.2×	0.106	ARF1
G protein gated Potassium channels	1	49.6×	0.106	KCNJ2
Inflammasomes	1	49.6×	0.106	BCL2
ER to Golgi Anterograde Transport	2	11.6×	0.106	SEC16B, ARF1
TCF dependent signaling in response to WNT	2	10.2×	0.106	SOX9, SOX6
MITF-M-regulated melanocyte development	2	9.9×	0.106	SOX9, BCL2
Signaling by WNT	2	9.7×	0.106	SOX9, SOX6
Developmental Biology	5	3.1×	0.106	SOX9, TBX1, ADGRG6, MEIS1, BCL2
Transport to the Golgi and subsequent modification	2	8.9×	0.107	SEC16B, ARF1
Positive Regulation of CDH1 Gene Transcription	1	41.4×	0.111	FOXA2
NFE2L2 regulating tumorigenic genes	1	41.4×	0.111	BCL2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 35 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
muscle organ development	5	23.8×	0.001	TBX1, SOX6, LBX1, CHD2, PAX3
pharyngeal system development	3	68.8×	0.002	TBX1, EYA1, PLXNA2
cartilage condensation	3	65.7×	0.002	SOX9, SOX6, UNCX
cochlea morphogenesis	3	49.8×	0.004	SOX9, TBX1, EYA1
cell fate specification	3	45.1×	0.004	SOX9, TBX1, FOXA2
pattern specification process	3	40.1×	0.005	TBX1, UNCX, EYA1
semicircular canal morphogenesis	2	137.6×	0.005	TBX1, EYA1
positive regulation of mesenchymal stem cell differentiation	2	137.6×	0.005	SOX9, SOX6
negative regulation of mesenchymal cell apoptotic process	2	137.6×	0.005	SOX9, TBX1
branching involved in ureteric bud morphogenesis	3	31.4×	0.006	SOX9, EYA1, BCL2
outer ear morphogenesis	2	87.5×	0.009	TBX1, EYA1
limb bud formation	2	87.5×	0.009	SOX9, PLXNA2
mesenchymal cell apoptotic process	2	87.5×	0.009	SOX9, TBX1
cartilage development	3	21.6×	0.013	SOX9, ADGRG6, SOX6
roof of mouth development	3	21.2×	0.013	BNC2, MEOX2, MSC
positive regulation of epithelial cell proliferation	3	20.9×	0.013	SOX9, TBX1, EYA1
endocrine pancreas development	2	53.5×	0.019	SOX9, FOXA2
positive regulation of cartilage development	2	53.5×	0.019	SOX9, SOX6
aorta morphogenesis	2	50.7×	0.020	TBX1, EYA1
epithelial tube branching involved in lung morphogenesis	2	48.1×	0.021	SOX9, HHIP
positive regulation of chondrocyte differentiation	2	45.9×	0.022	SOX9, SOX6
hematopoietic stem cell differentiation	2	43.8×	0.023	CHD2, BCL2
middle ear morphogenesis	2	40.1×	0.025	TBX1, EYA1
neuron fate specification	2	40.1×	0.025	SOX9, EYA1
melanin metabolic process	1	481.5×	0.026	BCL2
regulation of skeletal muscle contraction via regulation of action potential	1	481.5×	0.026	KCNJ2
spinal cord association neuron specification	1	481.5×	0.026	LBX1
regulation of polarized epithelial cell differentiation	1	481.5×	0.026	AJAP1
obsolete negative regulation of cellular pH reduction	1	481.5×	0.026	BCL2
pigment granule organization	1	481.5×	0.026	BCL2

Therapeutics

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 4 · Phased (≥1): 4 · Undrugged: 39

Druggability breadth: 13 of 43 evidence-associated genes (30%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
FTO	FLUORESCEIN
TNIK	PONATINIB
EPHA4	PONATINIB
BCL2	IXABEPILONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TNIK	46	4
EPHA4	34	4
FTO	18	4
BCL2	14	4
SOX9	0	0
TBX1	0	0
ADGRG6	0	0
CSMD1	0	0
HHIP	0	0
SOX6	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FLUORESCEIN	4	FTO
DEMECLOCYCLINE	4	FTO
ROXADUSTAT	4	FTO
MECLOFENAMIC ACID	4	FTO
AMILORIDE	4	FTO
TACRINE	4	FTO
ENTACAPONE	4	FTO
PONATINIB	4	EPHA4, TNIK
LENVATINIB	4	TNIK
AXITINIB	4	TNIK
SORAFENIB	4	EPHA4, TNIK
NERATINIB	4	TNIK
PACRITINIB	4	TNIK
VANDETANIB	4	EPHA4, TNIK
BOSUTINIB	4	EPHA4, TNIK
PAZOPANIB	4	TNIK
NINTEDANIB	4	TNIK
SUNITINIB	4	TNIK
DASATINIB	4	EPHA4, TNIK
ERLOTINIB	4	TNIK
QUIZARTINIB	4	TNIK
MIDOSTAURIN	4	TNIK
GEFITINIB	4	TNIK
FEDRATINIB	4	EPHA4
TIVOZANIB	4	EPHA4
DASATINIB ANHYDROUS	4	EPHA4
NILOTINIB	4	EPHA4
CRIZOTINIB	4	EPHA4
IXABEPILONE	4	BCL2
VENETOCLAX	4	BCL2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
BCL2	446	Binding:418, Functional:23, Toxicity:3, ADMET:2
EPHA4	286	Binding:286
TNIK	257	Binding:257
FTO	153	Binding:153
KCNJ2	31	Binding:23, ADMET:8
PAX3	17	Binding:17
NT5DC1	11	Binding:11
ABO	6	Binding:6
MEIS1	5	Binding:5
ARF1	4	Binding:4
SOX9	3	Binding:3
ADGRG6	2	Binding:2
KIF24	2	Binding:2
BCKDHB	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TENT5A	2.7.7.19	polynucleotide adenylyltransferase
FTO	1.14.11.53	mRNA N6-methyladenine demethylase
AGMO	1.14.16.5	alkylglycerol monooxygenase
EPHA4	2.7.10.1	receptor protein-tyrosine kinase
ABO	2.4.1.37, 2.4.1.40, 2.4.1.88	fucosylgalactoside 3-alpha-galactosyltransferase, glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase, globoside alpha-N-acetylgalactosaminyltransferase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
FTO	153
TNIK	257
EPHA4	286
BCL2	446

Pharmacogenomics

Cohort genes with a PharmGKB record: 38; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
FLUORESCEIN	4	FTO
DEMECLOCYCLINE	4	FTO
ROXADUSTAT	4	FTO
MECLOFENAMIC ACID	4	FTO
AMILORIDE	4	FTO
TACRINE	4	FTO
ENTACAPONE	4	FTO
PONATINIB	4	EPHA4, TNIK
LENVATINIB	4	TNIK
AXITINIB	4	TNIK
SORAFENIB	4	EPHA4, TNIK
NERATINIB	4	TNIK
PACRITINIB	4	TNIK
VANDETANIB	4	EPHA4, TNIK
BOSUTINIB	4	EPHA4, TNIK
PAZOPANIB	4	TNIK
NINTEDANIB	4	TNIK
SUNITINIB	4	TNIK
DASATINIB	4	EPHA4, TNIK
ERLOTINIB	4	TNIK
QUIZARTINIB	4	TNIK
MIDOSTAURIN	4	TNIK
GEFITINIB	4	TNIK
FEDRATINIB	4	EPHA4
TIVOZANIB	4	EPHA4
DASATINIB ANHYDROUS	4	EPHA4
NILOTINIB	4	EPHA4
CRIZOTINIB	4	EPHA4
IXABEPILONE	4	BCL2
VENETOCLAX	4	BCL2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	FTO, TNIK, EPHA4, BCL2
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	7	ADGRG6, CSMD1, BOC, TENT5A, KCNJ2, ABO, PLXNA2
D	Druggable family + AlphaFold only, no drug	2	MTMR11, AGMO
E	Difficult family or no structure, no drug	30	SOX9, TBX1, HHIP, SOX6, CREB5, LBX1, CDH13, CHD2, KIF24, NT5DC1 (+20 more)

Undrugged target profiles

39 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SOX9	3	—
TBX1	0	—
ADGRG6	2	—
CSMD1	0	—
HHIP	0	—
SOX6	0	—
CREB5	0	—
LBX1	0	—
BOC	0	—
CDH13	0	—
TENT5A	0	—
CHD2	0	—
KIF24	2	—
NT5DC1	11	—
CNKSR3	0	—
MTMR11	0	—
SEC16B	0	—
AJAP1	0	—
BNC2	0	—
UNCX	0	—
AGMO	0	—
EYA1	0	—
MIR4300	0	—
MIR3974	0	—
CNTFR-AS1	0	—
FOXA2	0	—
LINC01432	0	—
LINC01514	0	—
LINC02378	0	—
KCNJ2	31	—

Clinical trials & evidence

Clinical trials

Clinical trials: 197.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	183
PHASE4	9
PHASE3	2
PHASE1/PHASE2	1
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03935295	PHASE4	RECRUITING	Dysport ® as an Adjunctive Treatment to Bracing in the Management of Adolescent Idiopathic Scoliosis
NCT05561725	PHASE4	RECRUITING	Perioperative Steroid Dosing on the APR in AIS
NCT06023043	PHASE4	NOT_YET_RECRUITING	Postoperative Steroid Use in Adolescent Idiopathic Scoliosis and Neuromuscular Scoliosis Patients
NCT06067893	PHASE4	ENROLLING_BY_INVITATION	Low Dose Dexmedetomidine as a Postoperative Pain Adjunct
NCT06935331	PHASE4	ENROLLING_BY_INVITATION	Prospective Opioid-Free AIS Fusion
NCT01451788	PHASE4	COMPLETED	Effect of Human Thrombin With Gelatin Matrix on Perioperative Blood Loss in Scoliosis Surgery
NCT04931433	PHASE4	COMPLETED	Intravenous Lignocaine as an Analgesic Adjunct in Adolescent Idiopathic Scoliosis Surgery
NCT04950660	PHASE4	COMPLETED	Oral Caffeine Use for Pain Management in AIS Patients After Spinal Fusion
NCT05730920	PHASE4	COMPLETED	IV Methadone Vs EXPAREL Erector Spinae Plane Blockade in Pediatric Subjects Undergoing Idiopathic Scoliosis Correction
NCT06934278	PHASE3	RECRUITING	Pooled Human Plasma vs Crystalloid in The Management of Children Undergoing Instrumented Spinal Fusion for Scoliosis
NCT07561827	PHASE3	RECRUITING	The Effect of Erector Spinae Plane Block (ESPB) on Pediatric Pain Management Following Posterior Spinal Fusion (PSF) Surgery
NCT01813058	PHASE1/PHASE2	COMPLETED	Does Tranexamic Acid Decrease Blood Loss in Pediatric Idiopathic Scoliosis Surgery?
NCT06096181	PHASE2	TERMINATED	Propofol + Remifentanil vs. Propofol + Dexmedetomidine in Adolescent Idiopathic Scoliosis Patients Having Spine Surgery
NCT02471508	PHASE1	COMPLETED	Safety and Efficacy of Body-mapping Tank Top Equipped With Biofeedback System for Adolescent With Early Scoliosis
NCT02315729	Not specified	RECRUITING	Analysis of Prognostic Cell Signaling Factors in Adolescent Idiopathic Scoliosis
NCT03292601	Not specified	RECRUITING	Brace Monitoring for Adolescent Idiopathic Scoliosis (AIS)
NCT03716843	Not specified	RECRUITING	Dynamic Pressure Monitoring System for Orthotic Treatment of Scoliosis
NCT04117334	Not specified	RECRUITING	Determining Best Indications for Bracing for Adolescent Idiopathic Scoliosis
NCT04296903	Not specified	ACTIVE_NOT_RECRUITING	Post-approval Registry Study to Evaluate the Continued Safety and Probable Benefit of the MID-C System for 5 Years Post-Implantation in Adolescent Idiopathic Scoliosis (AIS)
NCT04441411	Not specified	RECRUITING	Non Fusion Surgery in Adolescent Idiopathic Scoliosis Patients
NCT04568759	Not specified	ACTIVE_NOT_RECRUITING	Effect of a Postural Re-education Intervention Compared to Standard Care on Scoliosis Progression in Adolescent
NCT04761549	Not specified	RECRUITING	3D, Dynamic and Mechanically-informed Decision Making in AIS
NCT05071144	Not specified	RECRUITING	Advanced SPinal Innovations With Robotics and Enabling Technology Registry
NCT05379868	Not specified	RECRUITING	Posterior Column Spinal Osteotomies in the Treatment of Adolescent Idiopathic Scoliosis
NCT05697939	Not specified	RECRUITING	3D Body Surface Modeling for Scoliosis Monitoring
NCT05774002	Not specified	RECRUITING	Psychological Assessment of Scoliosis Patients Undergoing Surgical Management
NCT05790031	Not specified	RECRUITING	Trials of Intelligent Nighttime Brace With Smart Padding to Treat of Adolescent Idiopathic Scoliosis
NCT05860673	Not specified	RECRUITING	Minimally Invasive Surgery vs Standard Posterior Approach in the Treatment of Developmental Idiopathic Scoliosis
NCT05912140	Not specified	ACTIVE_NOT_RECRUITING	Assessment of Trunk Aesthetics: Development of a New Tool
NCT05919459	Not specified	RECRUITING	Effectiveness of Acceptance and Commitment Therapy Versus Active Controls in Improving Psychological Functions of Parents and Children With Adolescent Idiopathic Scoliosis: A Randomized Controlled Trial
NCT05924347	Not specified	RECRUITING	Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development
NCT05924581	Not specified	RECRUITING	Validation of Clinical Assessment of Spinal Stiffness
NCT05927701	Not specified	RECRUITING	Self-perceived Health Status and Healthcare Consumption of Idiopathic Scoliosis Patients Treated More Than 20 Years Ago: How Much do Operated and Non-operated Patients Differ?
NCT06042699	Not specified	RECRUITING	Kids With Iron Deficiency and Scoliosis
NCT06083714	Not specified	RECRUITING	Effect of Scapular Stabilization Exercises in Individuals With Adolescent Idiopathic Scoliosis
NCT06224998	Not specified	RECRUITING	Schroth and Pilates Exercises in Idiopathic Adolescent Scoliosis
NCT06262269	Not specified	RECRUITING	Interest of Adapted Physical Activity by Tele-rehabilitation in Chronic Pathology - Idiopathic Scoliosis in Adolescents
NCT06279468	Not specified	RECRUITING	Clinical Effectiveness of Intervertebral Disc Release in Treating Lenke 5 Adolescent Idiopathic Scoliosis
NCT06314594	Not specified	RECRUITING	Personalized Prevention and Treatment Strategies for Adolescent Idiopathic Scoliosis Via a Comprehensive Health Management Platform
NCT06365892	Not specified	RECRUITING	Open-label Placebo (COLP) for Pain in Adolescent Idiopathic Scoliosis (AIS) Surgery+Surgical Treatment of Idiopathic Scoliosis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SODIUM CHLORIDE	4	2
ABOBOTULINUMTOXINA	4	1
CAFFEINE	4	1
METHADONE	4	1
PARAXANTHINE	0	1
MAGNESIUM SALICYLATE	-1	1