Strabismus

Summary

Strabismus (MONDO:0003432) is a disease (an umbrella term covering 11 Mondo subtypes) with 45 cohort genes and 102 clinical trials. The dominant Reactome pathway is Regulation of insulin secretion (3 cohort genes). Top therapeutic interventions include dexmedetomidine, pyridostigmine, and thiopental.

At a glance

• Umbrella term: 11 Mondo subtypes
• Cohort genes: 45
• ClinVar variants: 60
• Clinical trials: 102

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	strabismus
Mondo ID	MONDO:0003432
MeSH	D013285
DOID	DOID:540
NCIT	C35040
SNOMED CT	22066006
UMLS	C0038379
MedGen	21337
Is cancer (heuristic)	no

Also known as: squint · strabismus

Data availability: 60 ClinVar variants.

Disease family

An umbrella term covering 11 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › cranial nerve neuropathy › ocular motility disease › strabismus

Related subtypes (5): ophthalmoplegia, pathologic nystagmus, congenital fibrosis of extraocular muscles, Tolosa-Hunt syndrome, Weber syndrome

Subtypes (11): paralytic strabismus, exotropia, conjugate gaze palsy, intermittent squint, internuclear ophthalmoplegia, mechanical strabismus, hypertropia, cyclotropia, esotropia, hypotropia, monofixation syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

60 retrieved; paginated sample, class counts are floors:

26 pathogenic, 12 uncertain significance, 9 likely pathogenic, 7 pathogenic/likely pathogenic, 6 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
267817	46;XY;t(1;5)(p35.3;q31.3)dn		Pathogenic	criteria provided, single submitter
267821	46;XX;t(3;12)(q13.2;q14)dn		Pathogenic	criteria provided, single submitter
268006	46;XY;t(6;11)(p12.3;p14.2)dn		Pathogenic	criteria provided, single submitter
268009	46;X;t(X;3)(p21.3;p25.1)dn		Pathogenic	criteria provided, single submitter
268036	46;XX;t(2;10)(q22;22.3)dn		Pathogenic	criteria provided, single submitter
268044	46;XX;ins(2;9)(q24.3;p22.1p24.3)dn		Pathogenic	criteria provided, single submitter
544681	NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)	ADGRG1	Pathogenic	no assertion criteria provided
523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	ALKBH5	Pathogenic	criteria provided, single submitter
1804039	NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)	BFSP2	Pathogenic	criteria provided, single submitter
523261	GRCh37/hg19 17p13.3(chr17:2339561-2826073)	CLUH	Pathogenic	criteria provided, single submitter
375374	NM_138615.3(DHX30):c.1478G>A (p.Arg493His)	DHX30	Pathogenic	no assertion criteria provided
402130	NM_138615.3(DHX30):c.1685A>G (p.His562Arg)	DHX30	Pathogenic	criteria provided, single submitter
453289	NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter)	FOXG1	Pathogenic	criteria provided, multiple submitters, no conflicts
374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
224712	NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)	GNB1	Pathogenic/Likely pathogenic	no assertion criteria provided
224714	NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)	GNB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
218934	t(12;19)(q24.21;q12)	MED13L	Pathogenic	criteria provided, single submitter
523512	NM_015335.5(MED13L):c.1971del (p.Asp657fs)	MED13L	Pathogenic	criteria provided, single submitter
375383	NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)	MPP4	Pathogenic	no assertion criteria provided
222073	NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)	NALCN	Pathogenic	criteria provided, single submitter
206353	NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)	PCDH19	Pathogenic	criteria provided, multiple submitters, no conflicts
523510	NM_015100.4(POGZ):c.2771del (p.Pro924fs)	POGZ	Pathogenic	criteria provided, single submitter
40551	NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	PTPN11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	RIF1	Pathogenic	criteria provided, single submitter
812923	NC_000005.10:g.139189727_139201554del	SIL1	Pathogenic	no assertion criteria provided
812757	NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)	SLC2A1	Pathogenic	criteria provided, multiple submitters, no conflicts
523251	GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)	SNORD116-1	Pathogenic	criteria provided, single submitter
183277	NM_015087.5(SPART):c.1450dup (p.Thr484fs)	SPART	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 97 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
BFSP2	Orphanet:441452	Early-onset lamellar cataract
BFSP2	Orphanet:98984	Pulverulent cataract
BFSP2	Orphanet:98985	Early-onset sutural cataract
SLC2A1	Orphanet:168577	Hereditary cryohydrocytosis with reduced stomatin
SLC2A1	Orphanet:1942	Epilepsy with myoclonic-atonic seizures
SLC2A1	Orphanet:2131	Alternating hemiplegia of childhood
SLC2A1	Orphanet:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
SLC2A1	Orphanet:71277	Classic glucose transporter type 1 deficiency syndrome
SLC2A1	Orphanet:86911	Epilepsy with myoclonic absences
SLC2A1	Orphanet:98811	Paroxysmal exertion-induced dyskinesia
SLC9A6	Orphanet:85278	Christianson syndrome
SMARCA4	Orphanet:1465	Coffin-Siris syndrome
SMARCA4	Orphanet:231108	Rhabdoid tumor predisposition syndrome
SMARCA4	Orphanet:370396	Small cell carcinoma of the ovary
SMARCA4	Orphanet:466962	SMARCA4-deficient sarcoma of thorax
SOX5	Orphanet:313884	12p12.1 microdeletion syndrome
SOX5	Orphanet:313892	Developmental and speech delay due to SOX5 deficiency
SOX5	Orphanet:626	Large/giant congenital melanocytic nevus
STXBP1	Orphanet:495818	9q33.3q34.11 microdeletion syndrome
STXBP1	Orphanet:599373	STXBP1-related encephalopathy
TYR	Orphanet:352734	Minimal pigment oculocutaneous albinism type 1
TYR	Orphanet:352737	Temperature-sensitive oculocutaneous albinism type 1
TYR	Orphanet:79431	Oculocutaneous albinism type 1A
TYR	Orphanet:79434	Oculocutaneous albinism type 1B
TYR	Orphanet:895	Waardenburg syndrome type 2
LMBR1	Orphanet:2378	Laurin-Sandrow syndrome
LMBR1	Orphanet:931	Isolated acheiropodia
LMBR1	Orphanet:93321	Isolated radial hemimelia
LMBR1	Orphanet:93336	Polydactyly of a triphalangeal thumb
LMBR1	Orphanet:93405	Syndactyly type 4
LMBR1	Orphanet:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
CACNA1A	Orphanet:2131	Alternating hemiplegia of childhood
CACNA1A	Orphanet:2382	Lennox-Gastaut syndrome
CACNA1A	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
CACNA1A	Orphanet:569	Familial or sporadic hemiplegic migraine
CACNA1A	Orphanet:71518	Benign paroxysmal torticollis of infancy
CACNA1A	Orphanet:97	Familial paroxysmal ataxia
CACNA1A	Orphanet:98758	Spinocerebellar ataxia type 6
PCDH19	Orphanet:33069	Dravet syndrome
PCDH19	Orphanet:714652	PCDH19 clustering epilepsy
C1QTNF5	Orphanet:67042	Late-onset retinal degeneration
DHX30	Orphanet:647788	Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
SPART	Orphanet:101000	Autosomal recessive spastic paraplegia type 20
POGZ	Orphanet:468678	White-Sutton syndrome
NALCN	Orphanet:1146	Distal arthrogryposis type 1
NALCN	Orphanet:1147	Sheldon-Hall syndrome
NALCN	Orphanet:2053	Freeman-Sheldon syndrome
NALCN	Orphanet:562528	Congenital limbs-face contractures-hypotonia-developmental delay syndrome
NALCN	Orphanet:700336	Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
COL1A2	Orphanet:1899	Arthrochalasia Ehlers-Danlos syndrome

Cohort genes → proteins

45 cohort genes, 44 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	45

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
BFSP2	HGNC:1041	ENSG00000170819	Q13515	Phakinin	clinvar
SLC2A1	HGNC:11005	ENSG00000117394	P11166	Solute carrier family 2, facilitated glucose transporter member 1	clinvar
SLC9A6	HGNC:11079	ENSG00000198689	Q92581	Sodium/hydrogen exchanger 6	clinvar
SMARCA4	HGNC:11100	ENSG00000127616	P51532	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4	clinvar
SOX5	HGNC:11201	ENSG00000134532	P35711	Transcription factor SOX-5	clinvar
STXBP1	HGNC:11444	ENSG00000136854	P61764	Syntaxin-binding protein 1	clinvar
TYR	HGNC:12442	ENSG00000077498	P14679	Tyrosinase	clinvar
LMBR1	HGNC:13243	ENSG00000105983	Q8WVP7	Limb region 1 protein homolog	clinvar
NOM1	HGNC:13244	ENSG00000146909	Q5C9Z4	Nucleolar MIF4G domain-containing protein 1	clinvar
MPP4	HGNC:13680	ENSG00000082126	Q96JB8	MAGUK p55 subfamily member 4	clinvar
CYFIP1	HGNC:13759	ENSG00000273749	Q7L576	Cytoplasmic FMR1-interacting protein 1	clinvar
CACNA1A	HGNC:1388	ENSG00000141837	O00555	Voltage-dependent P/Q-type calcium channel subunit alpha-1A	clinvar
PCDH19	HGNC:14270	ENSG00000165194	Q8TAB3	Protocadherin-19	clinvar
C1QTNF5	HGNC:14344	ENSG00000223953	Q9BXJ0	Complement C1q tumor necrosis factor-related protein 5	clinvar
DHX30	HGNC:16716	ENSG00000132153	Q7L2E3	ATP-dependent RNA helicase DHX30	clinvar
SPART	HGNC:18514	ENSG00000133104	Q8N0X7	Spartin	clinvar
POGZ	HGNC:18801	ENSG00000143442	Q7Z3K3	Pogo transposable element with ZNF domain	clinvar
DMBX1	HGNC:19026	ENSG00000197587	Q8NFW5	Diencephalon/mesencephalon homeobox protein 1	clinvar
NALCN	HGNC:19082	ENSG00000102452	Q8IZF0	Sodium leak channel NALCN	clinvar
LSM1	HGNC:20472	ENSG00000175324	O15116	U6 snRNA-associated Sm-like protein LSm1	clinvar
COL1A2	HGNC:2198	ENSG00000164692	P08123	Collagen alpha-2(I) chain	clinvar
MED13L	HGNC:22962	ENSG00000123066	Q71F56	Mediator of RNA polymerase II transcription subunit 13-like	clinvar
RIF1	HGNC:23207	ENSG00000080345	Q5UIP0	Telomere-associated protein RIF1	clinvar
AHCTF1	HGNC:24618	ENSG00000153207	Q8WYP5	Protein ELYS	clinvar
SIL1	HGNC:24624	ENSG00000120725	Q9H173	Nucleotide exchange factor SIL1	clinvar
ALKBH5	HGNC:25996	ENSG00000091542	Q6P6C2	RNA demethylase ALKBH5	clinvar
RNF182	HGNC:28522	ENSG00000180537	Q8N6D2	E3 ubiquitin-protein ligase RNF182	clinvar
CLUH	HGNC:29094	ENSG00000132361	O75153	Clustered mitochondria protein homolog	clinvar
ASXL3	HGNC:29357	ENSG00000141431	Q9C0F0	Putative Polycomb group protein ASXL3	clinvar
LRIF1	HGNC:30299	ENSG00000121931	Q5T3J3	Ligand-dependent nuclear receptor-interacting factor 1	clinvar
KIF7	HGNC:30497	ENSG00000166813	Q2M1P5	Kinesin-like protein KIF7	clinvar
RSRC2	HGNC:30559	ENSG00000111011	Q7L4I2	Arginine/serine-rich coiled-coil protein 2	clinvar
SNORD116-1	HGNC:33067	ENSG00000207063		small nucleolar RNA, C/D box 116-1	clinvar
FBN2	HGNC:3604	ENSG00000138829	P35556	Fibrillin-2	clinvar
FOXG1	HGNC:3811	ENSG00000176165	P55316	Forkhead box protein G1	clinvar
FOXP1	HGNC:3823	ENSG00000114861	Q9H334	Forkhead box protein P1	clinvar
GALC	HGNC:4115	ENSG00000054983	P54803	Galactocerebrosidase	clinvar
GNB1	HGNC:4396	ENSG00000078369	P62873	Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1	clinvar
ADGRG1	HGNC:4512	ENSG00000205336	Q9Y653	Adhesion G-protein coupled receptor G1	clinvar
ILF3	HGNC:6038	ENSG00000129351	Q12906	Interleukin enhancer-binding factor 3	clinvar
KMT2D	HGNC:7133	ENSG00000167548	O14686	Histone-lysine N-methyltransferase 2D	clinvar
NF1	HGNC:7765	ENSG00000196712	P21359	Neurofibromin	clinvar
NFIX	HGNC:7788	ENSG00000008441	Q14938	Nuclear factor 1 X-type	clinvar
PTPN11	HGNC:9644	ENSG00000179295	Q06124	Tyrosine-protein phosphatase non-receptor type 11	clinvar
UPF1	HGNC:9962	ENSG00000005007	Q92900	Regulator of nonsense transcripts 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BFSP2	Phakinin	Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA.
SLC2A1	Solute carrier family 2, facilitated glucose transporter member 1	Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake.
SLC9A6	Sodium/hydrogen exchanger 6	Endosomal Na(+), K(+)/H(+) antiporter.
SMARCA4	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4	ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
SOX5	Transcription factor SOX-5	Transcription factor involved in chondrocytes differentiation and cartilage formation.
STXBP1	Syntaxin-binding protein 1	Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins.
TYR	Tyrosinase	This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds.
LMBR1	Limb region 1 protein homolog	Putative membrane receptor.
NOM1	Nucleolar MIF4G domain-containing protein 1	Plays a role in targeting PPP1CA to the nucleolus.
MPP4	MAGUK p55 subfamily member 4	May play a role in retinal photoreceptors development.
CYFIP1	Cytoplasmic FMR1-interacting protein 1	Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression.
CACNA1A	Voltage-dependent P/Q-type calcium channel subunit alpha-1A	Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene exp…
PCDH19	Protocadherin-19	Calcium-dependent cell-adhesion protein.
DHX30	ATP-dependent RNA helicase DHX30	RNA-dependent helicase.
SPART	Spartin	Lipophagy receptor that plays an important role in lipid droplet (LD) turnover in motor neurons.
POGZ	Pogo transposable element with ZNF domain	Plays a role in mitotic cell cycle progression and is involved in kinetochore assembly and mitotic sister chromatid cohesion.
DMBX1	Diencephalon/mesencephalon homeobox protein 1	Functions as a transcriptional repressor.
NALCN	Sodium leak channel NALCN	Voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability.
LSM1	U6 snRNA-associated Sm-like protein LSm1	Plays a role in the degradation of histone mRNAs, the only eukaryotic mRNAs that are not polyadenylated.
COL1A2	Collagen alpha-2(I) chain	Type I collagen is a member of group I collagen (fibrillar forming collagen).
MED13L	Mediator of RNA polymerase II transcription subunit 13-like	Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes.
RIF1	Telomere-associated protein RIF1	Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs.
AHCTF1	Protein ELYS	Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis.
SIL1	Nucleotide exchange factor SIL1	Required for protein translocation and folding in the endoplasmic reticulum (ER).
ALKBH5	RNA demethylase ALKBH5	Dioxygenase that specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes.
RNF182	E3 ubiquitin-protein ligase RNF182	E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway.
CLUH	Clustered mitochondria protein homolog	mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria.
ASXL3	Putative Polycomb group protein ASXL3	Putative Polycomb group (PcG) protein.
LRIF1	Ligand-dependent nuclear receptor-interacting factor 1	Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin.
KIF7	Kinesin-like protein KIF7	Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms.
FBN2	Fibrillin-2	Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles.
FOXG1	Forkhead box protein G1	Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.
FOXP1	Forkhead box protein P1	Transcriptional repressor.
GALC	Galactocerebrosidase	Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine.
GNB1	Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1	Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.
ADGRG1	Adhesion G-protein coupled receptor G1	Adhesion G-protein coupled receptor (aGPCR) for steroid hormone 17alpha-hydroxypregnenolone (17-OH), which is involved in cell adhesion and cell-cell interactions.
ILF3	Interleukin enhancer-binding factor 3	RNA-binding protein that plays an essential role in the biogenesis of circular RNAs (circRNAs) which are produced by back-splicing circularization of pre-mRNAs.
KMT2D	Histone-lysine N-methyltransferase 2D	Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of ‘Lys-4’ of histone H3 (H3K4).
NF1	Neurofibromin	Stimulates the GTPase activity of Ras.
NFIX	Nuclear factor 1 X-type	Recognizes and binds the palindromic sequence 5’-TTGGCNNNNNGCCAA-3’ present in viral and cellular promoters and in the origin of replication of adenovirus type 2.
PTPN11	Tyrosine-protein phosphatase non-receptor type 11	Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus.
UPF1	Regulator of nonsense transcripts 1	RNA-dependent helicase required for nonsense-mediated decay (NMD) of aberrant mRNAs containing premature stop codons and modulates the expression level of normal mRNAs.

Protein-family classification

Druggable: 10 · Difficult: 8 · Unknown: 27 · Druggable fraction: 0.22

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
Ion channel	2	5.0×	0.554
Phosphatase	1	1.9×	0.786
Transporter	1	1.7×	0.786
Transcription factor	7	1.3×	0.786
Other/Unknown	27	1.1×	0.786
Enzyme (other)	4	1.1×	0.786
Kinase	1	0.6×	0.932
GPCR	1	0.5×	0.932
Scaffold/PPI	1	0.4×	0.932

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BFSP2	Other/Unknown	no		Keratin_I, IF_rod_dom
SLC2A1	Transporter	yes		Glu_transpt_1, Sugar/inositol_transpt, MFS_sugar_transport-like
SLC9A6	Other/Unknown	no		NHE-6/7/9, NaH_exchanger, Cation/H_exchanger_TM
SMARCA4	Other/Unknown	no		SNF2_N, Bromodomain, Helicase_C-like
SOX5	Transcription factor	no		HMG_box_dom, HMG_box_dom_sf, SOX/SOX-like_TF
STXBP1	Other/Unknown	no		Sec1-like, Sec1-like_dom2, Sec1-like_sf
TYR	Enzyme (other)	yes	1.14.18.1	Tyrosinase_Cu-bd, Di-copper_centre_dom_sf, Tyrosinase/Hemocyanin
LMBR1	Other/Unknown	no		LMBR1-like_membr_prot, LIMR
NOM1	Other/Unknown	no		MIF4G-like_typ-3, Initiation_fac_eIF4g_MI, ARM-type_fold
MPP4	Kinase	yes		SH3_domain, PDZ, L27_dom
CYFIP1	Other/Unknown	no		Cytoplasmic_FMR1-int, CYRIA/CYRIB_Rac1-bd
CACNA1A	Ion channel	yes		VDCCAlpha1, CACNA1A, Ion_trans_dom
PCDH19	Other/Unknown	no		Cadherin-like_dom, Cadherin_N, Cadherin-like_sf
C1QTNF5	Other/Unknown	no		C1q_dom, Collagen, Tumour_necrosis_fac-like_dom
DHX30	Other/Unknown	no		Helicase_C-like, DNA/RNA_helicase_DEAH_CS, Helicase-assoc_dom
SPART	Other/Unknown	no		MIT_dom, Senescence/spartin_C, MIT_dom_sf
POGZ	Transcription factor	no		DDE_SF_endonuclease_dom, HTH_CenpB_DNA-bd_dom, Homeodomain-like_sf
DMBX1	Transcription factor	no		HD, OAR_dom, Homeodomain-like_sf
NALCN	Ion channel	yes		Ion_trans_dom, Volt_channel_dom_sf, NALCN
LSM1	Other/Unknown	no		Sm_dom_euk/arc, LSM_dom_sf, Lsm1
COL1A2	Other/Unknown	no		Fib_collagen_C, Collagen, Collagen_superfamily
MED13L	Other/Unknown	no		Med13_C, Mediator_Med13_N, MID_MedPIWI
RIF1	Other/Unknown	no		ARM-like, ARM-type_fold, Rif1_N
AHCTF1	Other/Unknown	no		Quinoprotein_ADH-like_sf, ELYS_dom, ELYS-bb
SIL1	Other/Unknown	no		ARM-like, Nucleotide_exch_fac_Fes1, ARM-type_fold
ALKBH5	Enzyme (other)	yes	1.14.11.53	AlkB-like, ALKBH5, AlkB-like_sf
RNF182	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS
CLUH	Other/Unknown	no		TPR-like_helical_dom_sf, GSKIP_dom_sf, CLU_dom
ASXL3	Other/Unknown	no		Asxl_HARE-HTH, ASX/ASX-like, ASX-like_PHD
LRIF1	Other/Unknown	no		LRIF1
KIF7	Other/Unknown	no		Kinesin_motor_dom, Kinesin_motor_CS, P-loop_NTPase
RSRC2	Other/Unknown	no		SMAP_dom
SNORD116-1	Other/Unknown	no
FBN2	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom
FOXG1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2
FOXP1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_2, FOXP-CC
GALC	Enzyme (other)	yes	3.2.1.46	Glyco_hydro_59, Aldolase_TIM, GH_hydrolase_sf
GNB1	Scaffold/PPI	no		WD40_G-protein_beta-like, WD40_rpt, WD40/YVTN_repeat-like_dom_sf
ADGRG1	GPCR	yes		GPS, GPCR_2_secretin-like, GPR1/GPR3/GPR5
ILF3	Other/Unknown	no		DZF_dom, dsRBD_dom, DSRM1_ILF3
KMT2D	Transcription factor	no		SET_dom, Znf_RING, Znf_PHD
NF1	Other/Unknown	no		CRAL-TRIO_dom, RasGAP_dom, Rho_GTPase_activation_prot
NFIX	Other/Unknown	no		CTF/NFI, MAD_homology1_Dwarfin-type, CTF/NFI_DNA-bd_N
PTPN11	Phosphatase	yes	3.1.3.48	PTP_cat, Tyr_Pase_dom, SH2
UPF1	Enzyme (other)	yes	3.6.4.13	Helicase/UvrB_N, UPF1_CH/ZBD, P-loop_NTPase

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	45
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	9
calcaneal tendon	8
ganglionic eminence	6
adrenal tissue	6
sural nerve	5
male germ line stem cell (sensu Vertebrata) in testis	4
middle temporal gyrus	4
cerebellar hemisphere	4
secondary oocyte	4
right hemisphere of cerebellum	4
primordial germ cell in gonad	3
Brodmann (1909) area 23	3
buccal mucosa cell	3
endothelial cell	3
ventricular zone	3
lateral nuclear group of thalamus	2
germinal epithelium of ovary	2
cerebellar cortex	2
apex of heart	2
left testis	2

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BFSP2	111	tissue_specific	yes	lens of camera-type eye, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad
SLC2A1	250	ubiquitous	marker	tibial nerve, sural nerve, skin of abdomen
SLC9A6	286	ubiquitous	yes	lateral nuclear group of thalamus, middle temporal gyrus, pons
SMARCA4	295	ubiquitous	marker	ganglionic eminence, cortical plate, cervix squamous epithelium
SOX5	221	ubiquitous	marker	cortical plate, calcaneal tendon, synovial joint
STXBP1	287	ubiquitous	marker	middle temporal gyrus, lateral nuclear group of thalamus, Brodmann (1909) area 23
TYR	59	tissue_specific	marker	pigmented layer of retina, male germ line stem cell (sensu Vertebrata) in testis, upper leg skin
LMBR1	249	ubiquitous	marker	adrenal tissue, sural nerve, calcaneal tendon
NOM1	251	ubiquitous	marker	epithelial cell of pancreas, visceral pleura, germinal epithelium of ovary
MPP4	122	broad	marker	secondary oocyte, oocyte, cerebellar hemisphere
CYFIP1	295	ubiquitous	marker	esophagus squamous epithelium, germinal epithelium of ovary, epithelium of esophagus
CACNA1A	237	broad	marker	cerebellar hemisphere, right hemisphere of cerebellum, cerebellar cortex
PCDH19	175	broad	marker	cortical plate, entorhinal cortex, middle temporal gyrus
C1QTNF5	128	ubiquitous	yes	apex of heart, gall bladder, ascending aorta
DHX30	245	ubiquitous	marker	left testis, right testis, right hemisphere of cerebellum
SPART	286	ubiquitous	marker	calcaneal tendon, adrenal tissue, left ovary
POGZ	298	ubiquitous	marker	right uterine tube, right hemisphere of cerebellum, cerebellar hemisphere
DMBX1	33	broad	yes	male germ line stem cell (sensu Vertebrata) in testis, upper arm skin, primordial germ cell in gonad
NALCN	201	ubiquitous	marker	middle temporal gyrus, Brodmann (1909) area 23, corpus callosum
LSM1	296	ubiquitous	marker	parotid gland, gingival epithelium, hair follicle
COL1A2	295	ubiquitous	marker	periodontal ligament, stromal cell of endometrium, skin of hip
MED13L	297	ubiquitous	marker	calcaneal tendon, colonic epithelium, tendon
RIF1	279	ubiquitous	marker	buccal mucosa cell, gastrocnemius, hindlimb stylopod muscle
AHCTF1	283	ubiquitous	marker	endothelial cell, calcaneal tendon, secondary oocyte
SIL1	251	ubiquitous	marker	islet of Langerhans, body of pancreas, left testis
ALKBH5	252	ubiquitous	marker	tibialis anterior, left ventricle myocardium, cardiac muscle of right atrium
RNF182	192	broad	yes	endothelial cell, cortical plate, ganglionic eminence
CLUH	283	ubiquitous	marker	gingival epithelium, apex of heart, right lobe of liver
ASXL3	205	broad	marker	buccal mucosa cell, secondary oocyte, cortical plate
LRIF1	271	ubiquitous	marker	calcaneal tendon, primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 6.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SMARCA4	8,138
PTPN11	6,009
SLC2A1	5,711
NF1	5,540
UPF1	4,936
ILF3	4,787
DHX30	4,364
SIL1	4,196
TYR	3,663
KMT2D	3,223

Intra-cohort edges

A	B	Sources
LMBR1	NOM1	string_interaction
NF1	NFIX	string_interaction
NF1	PTPN11	string_interaction
PCDH19	SLC9A6	string_interaction
PCDH19	STXBP1	string_interaction
SMARCA4	UPF1	biogrid_interaction

Structural data

PDB: 28 · AlphaFold-only: 16 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GNB1	P62873	1,262
PTPN11	Q06124	115
SMARCA4	P51532	31
NF1	P21359	26
UPF1	Q92900	12
ALKBH5	Q6P6C2	11
KMT2D	O14686	11
SLC2A1	P11166	5
CYFIP1	Q7L576	5
NALCN	Q8IZF0	5
COL1A2	P08123	5
KIF7	Q2M1P5	5
CACNA1A	O00555	4
SIL1	Q9H173	4
ILF3	Q12906	4
POGZ	Q7Z3K3	3
NFIX	Q14938	3
C1QTNF5	Q9BXJ0	2
SPART	Q8N0X7	2
AHCTF1	Q8WYP5	2
STXBP1	P61764	1
TYR	P14679	1
PCDH19	Q8TAB3	1
DHX30	Q7L2E3	1
RIF1	Q5UIP0	1
FOXG1	P55316	1
FOXP1	Q9H334	1
ADGRG1	Q9Y653	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
GALC	P54803	94.56
LSM1	O15116	89.59
CLUH	O75153	83.11
LMBR1	Q8WVP7	79.49
BFSP2	Q13515	78.15
MPP4	Q96JB8	76.39
NOM1	Q5C9Z4	70.73
RNF182	Q8N6D2	70.67
SLC9A6	Q92581	70.61
DMBX1	Q8NFW5	63.71
SOX5	P35711	58.95
MED13L	Q71F56	56.79
RSRC2	Q7L4I2	55.71
LRIF1	Q5T3J3	48.88
ASXL3	Q9C0F0	39.70
FBN2	P35556

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 243. Enrichment computed across 45 evidence-associated genes (28 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 28 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Regulation of insulin secretion	3	23.5×	0.065	SLC2A1, STXBP1, CACNA1A
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)	1	407.9×	0.149	SLC2A1
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)	1	407.9×	0.149	SLC9A6
Lactose synthesis	1	135.9×	0.149	SLC2A1
Defective VWF binding to collagen type I	1	135.9×	0.149	COL1A2
Enhanced cleavage of VWF variant by ADAMTS13	1	102.0×	0.149	COL1A2
Defective VWF cleavage by ADAMTS13 variant	1	102.0×	0.149	COL1A2
Melanin biosynthesis	1	81.6×	0.149	TYR
MET activates PTPN11	1	81.6×	0.149	PTPN11
Co-inhibition by BTLA	1	81.6×	0.149	PTPN11
Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome	1	81.6×	0.149	KMT2D
RAS signaling downstream of NF1 loss-of-function variants	1	58.3×	0.149	NF1
DNA Damage Reversal	1	58.3×	0.149	ALKBH5
Reversal of alkylation damage by DNA dioxygenases	1	58.3×	0.149	ALKBH5
STAT5 Activation	1	58.3×	0.149	PTPN11
Enhanced binding of GP1BA variant to VWF multimer:collagen	1	58.3×	0.149	COL1A2
Defective binding of VWF variant to GPIb:IX:V	1	58.3×	0.149	COL1A2
Vitamin C (ascorbate) metabolism	1	51.0×	0.149	SLC2A1
Netrin mediated repulsion signals	1	45.3×	0.149	PTPN11
Sodium/Proton exchangers	1	45.3×	0.149	SLC9A6
MAPK1 (ERK2) activation	1	40.8×	0.149	PTPN11
STAT5 activation downstream of FLT3 ITD mutants	1	40.8×	0.149	PTPN11
MAPK3 (ERK1) activation	1	37.1×	0.149	PTPN11
Signaling by Leptin	1	37.1×	0.149	PTPN11
Regulation of CDH11 gene transcription	1	37.1×	0.149	ILF3
Interleukin-6 signaling	1	34.0×	0.149	PTPN11
Presynaptic depolarization and calcium channel opening	1	34.0×	0.149	CACNA1A
Activation of the phototransduction cascade	1	34.0×	0.149	GNB1
GP1b-IX-V activation signalling	1	34.0×	0.149	COL1A2
Activated NTRK2 signals through FRS2 and FRS3	1	34.0×	0.149	PTPN11

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 43 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
hair follicle maturation	2	98.0×	0.033	NOM1, NF1
histone mRNA catabolic process	2	78.4×	0.033	LSM1, UPF1
dendrite extension	2	78.4×	0.033	SLC9A6, CYFIP1
brain development	5	9.2×	0.033	DMBX1, FOXG1, ADGRG1, NF1, PTPN11
positive regulation of mast cell apoptotic process	1	391.9×	0.064	NF1
regulation of glial cell differentiation	1	391.9×	0.064	NF1
gamma-delta T cell proliferation	1	391.9×	0.064	ALKBH5
negative regulation of collateral sprouting in absence of injury	1	391.9×	0.064	SPART
negative regulation of cortisol secretion	1	391.9×	0.064	PTPN11
negative regulation of growth hormone secretion	1	391.9×	0.064	PTPN11
protein heterotrimerization	1	391.9×	0.064	COL1A2
observational learning	1	391.9×	0.064	NF1
obsolete positive regulation of vesicle docking	1	391.9×	0.064	STXBP1
regulation of macrophage colony-stimulating factor production	1	391.9×	0.064	FOXP1
beta-catenin-TCF complex assembly	1	391.9×	0.064	KMT2D
regulation of acrosomal vesicle exocytosis	1	391.9×	0.064	STXBP1
negative regulation of androgen receptor signaling pathway	2	43.5×	0.064	SMARCA4, FOXP1
pigmentation	2	32.7×	0.064	TYR, NF1
Rac protein signal transduction	2	26.1×	0.064	CYFIP1, NF1
galactosylceramide catabolic process	1	195.9×	0.070	GALC
eye pigment biosynthetic process	1	195.9×	0.070	TYR
microvillus organization	1	195.9×	0.070	PTPN11
regulation of monocyte differentiation	1	195.9×	0.070	FOXP1
gamma-aminobutyric acid secretion, neurotransmission	1	195.9×	0.070	NF1
intestinal epithelial cell migration	1	195.9×	0.070	PTPN11
regulation of defense response to bacterium	1	195.9×	0.070	FOXP1
positive regulation of glutamate secretion, neurotransmission	1	195.9×	0.070	STXBP1
axon target recognition	1	130.6×	0.070	STXBP1
Schwann cell proliferation	1	130.6×	0.070	NF1
cerebellar cortex formation	1	130.6×	0.070	PTPN11

Therapeutics

Drugs indicated for this disease

0 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Atropine	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Onabotulinumtoxina	Phase 3 (in late-stage trials)
Palonosetron	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ketamine, Propofol, Thiopental.

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 5 · Phased (≥1): 9 · Undrugged: 36

Druggability breadth: 20 of 45 evidence-associated genes (44%) 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
SLC2A1	EMETINE
TYR	ASCORBIC ACID
CACNA1A	NIMODIPINE
PTPN11	ESTRAMUSTINE PHOSPHATE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TYR	10	4
PTPN11	8	4
SLC2A1	7	4
ALKBH5	3	3
SMARCA4	2	2
CACNA1A	2	4
RIF1	1	2
GNB1	1	2
ILF3	1	2
BFSP2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
EMETINE	4	SLC2A1
ASCORBIC ACID	4	TYR
HEXYLRESORCINOL	4	TYR
HYDROQUINONE	4	TYR
NIMODIPINE	4	CACNA1A
TACRINE	4	CACNA1A
ESTRAMUSTINE PHOSPHATE	4	PTPN11
GOSSYPOL	3	SLC2A1
CURCUMIN	3	TYR
RESVERATROL	3	TYR
QUERCETIN	3	TYR
BISANTRENE	3	ALKBH5
SUCCINIC ACID	3	ALKBH5
CYCLOHEXIMIDE	2	SLC2A1
GENISTEIN	2	SLC2A1
COLFORSIN	2	SLC2A1
MOLIBRESIB	2	RIF1, SMARCA4
CAMIBIRSTAT	2	SMARCA4
BUTYLATED HYDROXYTOLUENE	2	TYR
LUTEOLIN	2	TYR
ARBUTIN	2	TYR
BREQUINAR	2	ALKBH5
AMINOQUINURIDE	2	GNB1
SEPANTRONIUM BROMIDE	2	ILF3
ENOXOLONE	2	PTPN11
CEFSULODIN	2	PTPN11
BATOPROTAFIB	2	PTPN11
VOCIPROTAFIB	2	PTPN11
KAEMPFEROL	1	SLC2A1, TYR
PD-0166285	1	SLC2A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

Symbol	Assays	Type breakdown
PTPN11	588	Binding:585, Functional:2, ADMET:1
SMARCA4	230	Binding:207, ADMET:12, Functional:11
TYR	211	Binding:209, ADMET:2
SLC2A1	158	Binding:130, ADMET:24, Functional:4
ALKBH5	130	Binding:130
CACNA1A	19	Binding:18, Functional:1
GNB1	12	Binding:12
KMT2D	11	Binding:11
CYFIP1	7	Binding:7
RIF1	7	Binding:7
KIF7	5	Binding:5
COL1A2	4	Functional:4
ILF3	4	Binding:4
GALC	3	Binding:2, Functional:1
ADGRG1	3	Binding:3
STXBP1	1	Binding:1
NOM1	1	Binding:1
DHX30	1	Binding:1
CLUH	1	Binding:1
UPF1	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TYR	1.14.18.1	tyrosinase
ALKBH5	1.14.11.53	mRNA N6-methyladenine demethylase
GALC	3.2.1.46	galactosylceramidase
PTPN11	3.1.3.48	protein-tyrosine-phosphatase
UPF1	3.6.4.13	RNA helicase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
SLC2A1	158
SMARCA4	230
TYR	211
ALKBH5	130
PTPN11	588

Pharmacogenomics

Cohort genes with a PharmGKB record: 44; 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)
EMETINE	4	SLC2A1
ASCORBIC ACID	4	TYR
HEXYLRESORCINOL	4	TYR
HYDROQUINONE	4	TYR
NIMODIPINE	4	CACNA1A
TACRINE	4	CACNA1A
ESTRAMUSTINE PHOSPHATE	4	PTPN11
GOSSYPOL	3	SLC2A1
CURCUMIN	3	TYR
RESVERATROL	3	TYR
QUERCETIN	3	TYR
BISANTRENE	3	ALKBH5
SUCCINIC ACID	3	ALKBH5
CYCLOHEXIMIDE	2	SLC2A1
GENISTEIN	2	SLC2A1
COLFORSIN	2	SLC2A1
MOLIBRESIB	2	RIF1, SMARCA4
CAMIBIRSTAT	2	SMARCA4
BUTYLATED HYDROXYTOLUENE	2	TYR
LUTEOLIN	2	TYR
ARBUTIN	2	TYR
BREQUINAR	2	ALKBH5
AMINOQUINURIDE	2	GNB1
SEPANTRONIUM BROMIDE	2	ILF3
ENOXOLONE	2	PTPN11
CEFSULODIN	2	PTPN11
BATOPROTAFIB	2	PTPN11
VOCIPROTAFIB	2	PTPN11
KAEMPFEROL	1	SLC2A1, TYR
PD-0166285	1	SLC2A1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	SLC2A1, TYR, CACNA1A, PTPN11
B	Phased (≥1) drug, not yet approved	5	SMARCA4, RIF1, ALKBH5, GNB1, ILF3
C	Druggable family + PDB, no drug	3	NALCN, ADGRG1, UPF1
D	Druggable family + AlphaFold only, no drug	2	MPP4, GALC
E	Difficult family or no structure, no drug	31	BFSP2, SLC9A6, SOX5, STXBP1, LMBR1, NOM1, CYFIP1, PCDH19, C1QTNF5, DHX30 (+21 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
BFSP2	0	—
SLC9A6	0	—
SOX5	0	—
STXBP1	1	—
LMBR1	0	—
NOM1	1	—
MPP4	0	—
CYFIP1	7	—
PCDH19	0	—
C1QTNF5	0	—
DHX30	1	—
SPART	0	—
POGZ	0	—
DMBX1	0	—
NALCN	0	—
LSM1	0	—
COL1A2	4	—
MED13L	0	—
AHCTF1	0	—
SIL1	0	—
RNF182	0	—
CLUH	1	—
ASXL3	0	—
LRIF1	0	—
KIF7	5	—
RSRC2	0	—
SNORD116-1	0	—
FBN2	0	—
FOXG1	0	—
FOXP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 102.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	84
PHASE4	7
PHASE3	6
PHASE2	2
PHASE1	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06035757	PHASE4	RECRUITING	The Occurrence of Emergence Agitation in Pediatric Strabismus Surgery
NCT06560268	PHASE4	NOT_YET_RECRUITING	Low Flow Anesthesia in Children Undergoing Strabismus Surgery
NCT00461656	PHASE4	COMPLETED	Povidone-iodine Antisepsis for Strabismus Surgery
NCT01901588	PHASE4	COMPLETED	Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery
NCT02379546	PHASE4	COMPLETED	The Effect of Anaesthesia Depth on Oculo-cardiac Reflex
NCT03349515	PHASE4	COMPLETED	The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia.
NCT04549844	PHASE4	UNKNOWN	Peribulbar Block for Prevention of Oculocardiac Reflex
NCT06863675	PHASE3	NOT_YET_RECRUITING	Highly Aspherical Lenslet (HAL) and Binocular Vision (BV) Disorders [HALT X(T) Study]
NCT00000128	PHASE3	UNKNOWN	A Trial of Bifocals in Myopic Children With Esophoria
NCT00001864	PHASE3	COMPLETED	Amblyopia (Lazy Eye) Treatment Study
NCT00038753	PHASE3	UNKNOWN	Vision In Preschoolers Study (VIP Study)
NCT01584843	PHASE3	COMPLETED	Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus
NCT01616108	PHASE2/PHASE3	UNKNOWN	Bupivacaine Injection of Eye Muscles to Treat Strabismus
NCT04060771	PHASE3	UNKNOWN	Post-Operative Nausea and Vomiting in Children Submitted to Strabismus Surgery
NCT06689943	PHASE2	NOT_YET_RECRUITING	Pain After Strabismus Surgery
NCT00478907	PHASE2	COMPLETED	Prevention of Complications of Eye Surgery
NCT00917982	PHASE1	UNKNOWN	The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients
NCT02246556	PHASE1	TERMINATED	Dichoptic Virtual Reality Therapy for Amblyopia in Adults
NCT03713268	Not specified	RECRUITING	Intraoperative OCT Guidance of Intraocular Surgery II
NCT04310241	Not specified	RECRUITING	Visual Function Abnormalities in Strabismus and Amblyopia and Response to Therapy
NCT04353960	Not specified	RECRUITING	The Alaska Oculocardiac Reflex Study
NCT04770519	Not specified	RECRUITING	Genetic Studies of Strabismus, Nystagmus, and Associated Disorders
NCT06733220	Not specified	RECRUITING	Balance in the Strabismic Patient Undergoing Strabismus Surgery
NCT06762067	Not specified	NOT_YET_RECRUITING	Exercise Training on a Mirror for Intermittent Exotropia Control Post Strabismus Surgery
NCT06928727	Not specified	RECRUITING	Ocular Characteristics in Patients With Craniosynostosis
NCT07152964	Not specified	NOT_YET_RECRUITING	Medial Rectus Tendon Width and Surgical Dose Response in Commitant Esotropic Patients
NCT07180394	Not specified	NOT_YET_RECRUITING	Botulinum Toxin for Strabismus Treatment
NCT07301645	Not specified	NOT_YET_RECRUITING	VISION-3D: Visual Skills Improvement With On-screen 3D Movies.
NCT07446621	Not specified	NOT_YET_RECRUITING	Risk Factors And Surgical Outcomes Of Strabismus Reoperation
NCT07547748	Not specified	RECRUITING	Evaluation of a County-Based Eye Health Service Model in Rural Chinese Children
NCT07563959	Not specified	NOT_YET_RECRUITING	Visual Therapy for Intermittent Strabismus
NCT00001143	Not specified	COMPLETED	Development of the Eye Motor System During the First 7 Months of Life in Infants With and Without a Family History of Cross-Eye
NCT00001861	Not specified	COMPLETED	Screening for Studies on Nystagmus and Strabismus
NCT00304577	Not specified	COMPLETED	Bilateral Recession or Unilateral Recession-Resection as Surgery for Infantile Esotropia
NCT00338559	Not specified	COMPLETED	Does LMA Instead of ET Tube Affect Incidence of Postoperative Vomiting in Children Undergoing Strabismus Correction?
NCT00535938	Not specified	COMPLETED	MDs on Botox Utility (MOBILITY)
NCT00559234	Not specified	COMPLETED	Potential Research Participants for Future Studies of Inherited Eye Diseases
NCT01109459	Not specified	COMPLETED	Multimodal Physician Intervention to Detect Amblyopia
NCT01430247	Not specified	COMPLETED	Vision Screening for the Detection of Amblyopia
NCT01512355	Not specified	COMPLETED	The Effect of Dexmedetomidine on Decreasing Emergence Agitation and Delirium in Pediatric Patients Undergoing Strabismus Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEXMEDETOMIDINE	4	6
PYRIDOSTIGMINE	4	2
THIOPENTAL	4	2
ATROPINE	4	1
DESFLURANE	4	1
HYDROXYZINE HYDROCHLORIDE	4	1
PALONOSETRON	4	1
MEDETOMIDINE	3	1
CHEMBL4557433	0	1