Refractive error

Summary

Refractive error (MONDO:0004892) is a disease (an umbrella term covering 7 Mondo subtypes) whose subtypes are caused by variants in ARR3, CPSF1, LOXL3, and 7 other genes. It is a defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia (Mondo). This page aggregates 75 associated genes (2,199 GWAS associations across 29 studies) and 296 registered clinical trials. Top therapeutic interventions include brimonidine, cyclopentolate, and proparacaine.

At a glance

• Umbrella term: 7 Mondo subtypes
• Cohort genes: 75 (strongest-evidence selection; the list is capped)
• GWAS associations: 2,199 (top 1% of diseases corpus-wide)
• Clinical trials: 296 (top 2% of diseases corpus-wide)
• Druggability snapshot: 0 of 75 cohort genes are drug-illuminated (an approved/clinical drug with curated evidence); 65 functionally characterized but not yet drugged (BIN3, CCL4, BMP2, BMP3). Atlas-derived.

Clinical features

Clinical description

Mondo: A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia.

MeSH: Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.

Identifiers

Disease identifiers

Field	Value
Canonical name	refractive error
Mondo ID	MONDO:0004892
MeSH	D012030
DOID	DOID:9835
SNOMED CT	39021009
UMLS	C0034951
MedGen	20508
Is cancer (heuristic)	no

Data availability: 2,199 GWAS associations (29 studies).

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › refractive error

Sibling subtypes (119): ptosis, eye accommodation disease, corneal disorder, asthenopia, lens disorder, ocular siderosis, coloboma, mucopolysaccharidosis type 1, lacrimal apparatus disorder, anterior dislocation of lens, uveal disorder, eyelid disorder, ocular hypotension, scotoma, exophthalmos, glaucoma, retinal disorder, eye allergy, optic neuritis, conjunctival disorder, … (+99 more under eye disorder)

Subtypes (7): presbyopia, myopia, anisometropia, hyperopia, astigmatism, … (+2 more)

Genetics & variants

GWAS landscape

2,199 GWAS associations across 29 studies. Top hits map to 37 distinct genes (as reported by GWAS).

Top associations by p-value

showing 30 of 2,199 associations by p-value:

rsID	p-value	Gene	Risk allele	Odds ratio
rs12193446	1e-300	LAMA2	A	0.11
rs634990	2e-221	LINC02252 - GJD2	T	0.06
rs17648524	3e-193	RBFOX1	C	0.06
rs7744813	6e-188	KCNQ5	A	0.05
rs11602008	3e-181	LRRC4C	A	0.06
rs2741297	7e-118	PRSS56	A	0.05
rs11777176	4e-106	TOX-DT - RNA5SP267	T	0.04
rs524952	1e-104	LINC02252 - GJD2	T	0.24
rs9585327	4e-96	NDUFA12P1 - PCCA-DT	A	0.03
rs16890057	9e-95	ZMAT4	A	0.04
rs13380104	4e-83	RASGRF1	T	0.03
rs2908972	2e-82	SHISA6	A	0.03
rs17400325	1e-69	PDE11A, PDE11A-AS1	T	0.08
rs2855530	2e-68	BMP4	C	0.03
rs72868581	1e-67	BMP3	C	0.06
rs17407165	1e-67	KCNMA1	A	0.03
rs12965607	1e-66	MYO5B	T	0.04
rs10746463	5e-64	CD55	A	0.03
rs1550094	2e-61	PRSS56	A	0.19
rs1820542	1e-58	BICC1	T	0.02
rs61840036	2e-58	FRMPD2	A	0.03
rs178597	3e-58	LMCD1-AS1	T	0.02
rs3138142	2e-57	RDH5	T	0.21
rs1073986	1e-56	DLG2	T	0.02
rs6672382	4e-56	U3 - NMNAT1P2	A	0.03
rs62183808	3e-55	METAP1D	A	0.03
rs10788333	8e-54	CDHR1	A	0.02
rs6534642	9e-54	ANTXR2	T	0.03
rs9857275	3e-53	PXYLP1, ZBTB38	A	0.02
rs7188859	1e-52	RBFOX1	T	0.17

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90078860	Backman JD	2021	386,786	43,548	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90082846	Backman JD	2021	386,786	43,548	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90079424	Backman JD	2021	46,020	35,830	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083410	Backman JD	2021	46,020	35,830	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90079427	Backman JD	2021	45,986	35,830	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083413	Backman JD	2021	45,986	35,830	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90079428	Backman JD	2021	4,188	77,628	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083414	Backman JD	2021	4,188	77,628	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90079425	Backman JD	2021	4,185	77,665	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083411	Backman JD	2021	4,185	77,665	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	47

MAF distribution

Bucket	Variants
common (>=0.05)	48
low_freq (0.01-0.05)	2
rare (<0.01)	0
unknown	0

Functional consequences

6 consequence types:

Consequence	Count
intron_variant	35
intergenic_variant	9
missense_variant	2
synonymous_variant	2
non_coding_transcript_exon_variant	1
3_prime_UTR_variant	1

Top variants

showing 30 of 50 variants:

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs12193446	6	129498893	A>G	0.102	intron_variant	LAMA2	1e-300	Tier 4: intronic/intergenic
rs634990	15	34713872	T>A,C,G	0.43	intron_variant	LINC02252 - GJD2	2e-221	Tier 4: intronic/intergenic
rs17648524	16	7409682	G>A,C	0.329	intron_variant	RBFOX1	3e-193	Tier 4: intronic/intergenic
rs7744813	6	72933566	C>A,G,T	0.39	intron_variant	KCNQ5	6e-188	Tier 4: intronic/intergenic
rs11602008	11	40127755	A>T	0.134	intron_variant	LRRC4C	3e-181	Tier 4: intronic/intergenic
rs2741297	2	232522297	A>G,T	0.276	intron_variant	PRSS56	7e-118	Tier 4: intronic/intergenic
rs11777176	8	59263770	C>G,T	0.347	intron_variant	TOX-DT - RNA5SP267	4e-106	Tier 4: intronic/intergenic
rs524952	15	34713685	T>A,C	0.05	intron_variant	LINC02252 - GJD2	1e-104	Tier 4: intronic/intergenic
rs9585327	13	100037100	G>A,T	0.424	intergenic_variant	NDUFA12P1 - PCCA-DT	4e-96	Tier 4: intronic/intergenic
rs16890057	8	40869063	G>A	0.216	intron_variant	ZMAT4	9e-95	Tier 4: intronic/intergenic
rs13380104	15	79086479	C>G,T	0.411	intron_variant	RASGRF1	4e-83	Tier 4: intronic/intergenic
rs2908972	17	11503942	T>A,C,G	0.391	intron_variant	SHISA6	2e-82	Tier 4: intronic/intergenic
rs17400325	2	177701185	T>C	0.031	missense_variant	PDE11A, PDE11A-AS1	1e-69	Tier 1: coding
rs2855530	14	53955199	G>A,C,T	0.484	non_coding_transcript_exon_variant	BMP4	2e-68	Tier 4: intronic/intergenic
rs72868581	4	81033418	G>A,C	0.045	intron_variant	BMP3	1e-67	Tier 4: intronic/intergenic
rs17407165	10	77297465	G>A	0.331	intron_variant	KCNMA1	1e-67	Tier 4: intronic/intergenic
rs12965607	18	49864655	T>G	0.127	intron_variant	MYO5B	1e-66	Tier 4: intronic/intergenic
rs10746463	1	207337251	G>A,C,T	0.282	intron_variant	CD55	5e-64	Tier 4: intronic/intergenic
rs1550094	2	232520686	G>A,C,T	0.05	missense_variant	PRSS56	2e-61	Tier 1: coding
rs1820542	10	58555883	T>A,C,G	0.498	intron_variant	BICC1	1e-58	Tier 4: intronic/intergenic
rs61840036	10	48198248	A>C	0.27	intron_variant	FRMPD2	2e-58	Tier 4: intronic/intergenic
rs178597	3	8155254	C>T	0.419	intron_variant	LMCD1-AS1	3e-58	Tier 4: intronic/intergenic
rs3138142	12	55721801	C>A,T	0.05	synonymous_variant	RDH5	2e-57	Tier 4: intronic/intergenic
rs1073986	11	84927691	T>A,C,G	0.39	intron_variant	DLG2	1e-56	Tier 4: intronic/intergenic
rs6672382	1	164225062	G>A	0.226	intergenic_variant	U3 - NMNAT1P2	4e-56	Tier 4: intronic/intergenic
rs62183808	2	172015170	G>A,C,T	0.232	intron_variant	METAP1D	3e-55	Tier 4: intronic/intergenic
rs10788333	10	84200393	C>A,T	0.454	intron_variant	CDHR1	8e-54	Tier 4: intronic/intergenic
rs6534642	4	79907967	T>C,G	0.215	intron_variant	ANTXR2	9e-54	Tier 4: intronic/intergenic
rs9857275	3	141359346	C>A	0.339	intron_variant	PXYLP1, ZBTB38	3e-53	Tier 4: intronic/intergenic
rs7188859	16	7410425	T>C	0.05	intron_variant	RBFOX1	1e-52	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 58 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Genes curated across subtypes (GenCC)

Genes with a Definitive or Strong GenCC gene–disease validity classification for this term’s subtypes (up to three levels down), ranked by the number of subtypes they are curated for.

10 genes:

Gene	Subtypes	Example subtypes
ARR3	1	myopia 26, X-linked, female-limited
CPSF1	1	myopia 27
LOXL3	1	myopia 28, autosomal recessive
LRPAP1	1	myopia 23, autosomal recessive
MYRF	1	hyperopia
P3H2	1	myopia, high, with cataract and vitreoretinal degeneration
P4HA2	1	myopia
SCO2	1	myopia 6
SLC39A5	1	myopia 24, autosomal dominant
ZNF644	1	myopia 21, autosomal dominant

Orphanet rare-disease linkage (cohort genes)

58 cohort genes:

Gene	Orphanet ID	Rare disease
BMP2	Orphanet:261295	20p12.3 microdeletion syndrome
BMP2	Orphanet:93396	Brachydactyly type A2
BMP4	Orphanet:139471	Microphthalmia with brain and digit anomalies
BMP4	Orphanet:199306	Cleft lip/palate
BMP4	Orphanet:828	Stickler syndrome
BMP4	Orphanet:93100	Renal agenesis, unilateral
SEMA3D	Orphanet:388	Hirschsprung disease
SIX3	Orphanet:220386	Semilobar holoprosencephaly
SIX3	Orphanet:280195	Septopreoptic holoprosencephaly
SIX3	Orphanet:280200	Microform holoprosencephaly
SIX3	Orphanet:485275	Acquired schizencephaly
SIX3	Orphanet:93924	Lobar holoprosencephaly
SIX3	Orphanet:93925	Alobar holoprosencephaly
SIX3	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly
SIX6	Orphanet:35612	Nanophthalmos
SIX6	Orphanet:435930	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
SIX6	Orphanet:98938	Colobomatous microphthalmia
TCF7L2	Orphanet:528084	Non-specific syndromic intellectual disability
TFAP2B	Orphanet:46627	Char syndrome
TFAP2B	Orphanet:466729	Familial patent arterial duct
TGFBR1	Orphanet:284973	Marfan syndrome type 2
TGFBR1	Orphanet:60030	Loeys-Dietz syndrome
TGFBR1	Orphanet:65748	Multiple self-healing squamous epithelioma
TGFBR1	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection
THRB	Orphanet:566243	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
TJP2	Orphanet:238475	Familial hypercholanemia
TJP2	Orphanet:480483	Progressive familial intrahepatic cholestasis type 4
TJP2	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
TNFSF12	Orphanet:696931	Common variable immunodeficiency phenotype due to TWEAK deficiency
ZIC2	Orphanet:220386	Semilobar holoprosencephaly
ZIC2	Orphanet:280195	Septopreoptic holoprosencephaly
ZIC2	Orphanet:280200	Microform holoprosencephaly
ZIC2	Orphanet:93924	Lobar holoprosencephaly
ZIC2	Orphanet:93925	Alobar holoprosencephaly
ZIC2	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly
CA8	Orphanet:1766	Dysequilibrium syndrome
CACNA1D	Orphanet:324321	Sinoatrial node dysfunction and deafness
CACNA1D	Orphanet:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
ADAMTSL1	Orphanet:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
ZEB2	Orphanet:261537	Mowat-Wilson syndrome due to monosomy 2q22
ZEB2	Orphanet:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation
ZEB2	Orphanet:626	Large/giant congenital melanocytic nevus
ARID2	Orphanet:1465	Coffin-Siris syndrome
RCBTB1	Orphanet:99002	Reticular dystrophy of the retinal pigment epithelium
BICC1	Orphanet:730	Autosomal dominant polycystic kidney disease
C14orf39	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
TTC8	Orphanet:110	Bardet-Biedl syndrome
TTC8	Orphanet:791	Retinitis pigmentosa
ANTXR2	Orphanet:2028	Juvenile hyaline fibromatosis
ANTXR2	Orphanet:2176	Infantile systemic hyalinosis
COL10A1	Orphanet:174	Metaphyseal chondrodysplasia, Schmid type
COL6A1	Orphanet:610	Bethlem muscular dystrophy
COL6A1	Orphanet:646113	Intermediate collagen VI-related muscular dystrophy
COL6A1	Orphanet:75840	Ullrich congenital muscular dystrophy
PNPT1	Orphanet:101111	Spinocerebellar ataxia type 25
PNPT1	Orphanet:319514	Combined oxidative phosphorylation defect type 13
PNPT1	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
LRMDA	Orphanet:352745	Oculocutaneous albinism type 7

Cohort genes → proteins

75 cohort genes, 73 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	75

Cohort genes

showing 60 of 75 cohort genes:

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RNU6-1	HGNC:10227	ENSG00000206625		RNA, U6 small nuclear 1	gwas
RORB	HGNC:10259	ENSG00000198963	Q92753	Nuclear receptor ROR-beta	gwas
BIN3	HGNC:1054	ENSG00000147439	Q9NQY0	Bridging integrator 3	gwas
CCL4	HGNC:10630	ENSG00000275302	P13236	C-C motif chemokine 4	gwas
BMP2	HGNC:1069	ENSG00000125845	P12643	Bone morphogenetic protein 2	gwas
BMP3	HGNC:1070	ENSG00000152785	P12645	Bone morphogenetic protein 3	gwas
BMP4	HGNC:1071	ENSG00000125378	P12644	Bone morphogenetic protein 4	gwas
SEMA3D	HGNC:10726	ENSG00000153993	O95025	Semaphorin-3D	gwas
SETMAR	HGNC:10762	ENSG00000170364	Q53H47	Histone-lysine N-methyltransferase SETMAR	gwas
SH3GL2	HGNC:10831	ENSG00000107295	Q99962	Endophilin-A1	gwas
ST8SIA1	HGNC:10869	ENSG00000111728	Q92185	Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase	gwas
SIX3	HGNC:10889	ENSG00000138083	O95343	Homeobox protein SIX3	gwas
SIX6	HGNC:10892	ENSG00000184302	O95475	Homeobox protein SIX6	gwas
SLC14A2	HGNC:10919	ENSG00000132874	Q15849	Urea transporter 2	gwas
SNTB1	HGNC:11168	ENSG00000172164	Q13884	Beta-1-syntrophin	gwas
SSR1	HGNC:11323	ENSG00000124783	P43307	Translocon-associated protein subunit alpha	gwas
SYN3	HGNC:11496	ENSG00000185666	O14994	Synapsin-3	gwas
TCF7L2	HGNC:11641	ENSG00000148737	Q9NQB0	Transcription factor 7-like 2	gwas
TFAP2B	HGNC:11743	ENSG00000008196	Q92481	Transcription factor AP-2-beta	gwas
TGFBR1	HGNC:11772	ENSG00000106799	P36897	TGF-beta receptor type-1	gwas
THRB	HGNC:11799	ENSG00000151090	P10828	Thyroid hormone receptor beta	gwas
MPPED2	HGNC:1180	ENSG00000066382	Q15777	Metallophosphoesterase MPPED2	gwas
TJP2	HGNC:11828	ENSG00000119139	Q9UDY2	Tight junction protein 2	gwas
TNFSF12	HGNC:11927	ENSG00000239697	O43508	Tumor necrosis factor ligand superfamily member 12	gwas
USP25	HGNC:12624	ENSG00000155313	Q9UHP3	Ubiquitin carboxyl-terminal hydrolase 25	gwas
VIPR2	HGNC:12695	ENSG00000106018	P41587	Vasoactive intestinal polypeptide receptor 2	gwas
ZIC2	HGNC:12873	ENSG00000043355	O95409	Zinc finger protein ZIC 2	gwas
C4BPA	HGNC:1325	ENSG00000123838	P04003	C4b-binding protein alpha chain	gwas
HIVEP3	HGNC:13561	ENSG00000127124	Q5T1R4	Transcription factor HIVEP3	gwas
CA8	HGNC:1382	ENSG00000178538	P35219	Carbonic anhydrase-related protein	gwas
SCAND3	HGNC:13851	ENSG00000232040	Q6R2W3	SCAN domain-containing protein 3	gwas
CACNA1D	HGNC:1391	ENSG00000157388	Q01668	Voltage-dependent L-type calcium channel subunit alpha-1D	gwas
CDRT15	HGNC:14395	ENSG00000223510	Q96T59	CMT1A duplicated region transcript 15 protein	gwas
ADAMTSL1	HGNC:14632	ENSG00000178031	Q8N6G6	ADAMTS-like protein 1	gwas
DSCAML1	HGNC:14656	ENSG00000177103	Q8TD84	Cell adhesion molecule DSCAML1	gwas
ZEB2	HGNC:14881	ENSG00000169554	O60315	Zinc finger E-box-binding homeobox 2	gwas
DNAJB12	HGNC:14891	ENSG00000148719	Q9NXW2	DnaJ homolog subfamily B member 12	gwas
DYNLRB2	HGNC:15467	ENSG00000168589	Q8TF09	Dynein light chain roadblock-type 2	gwas
TFAP2D	HGNC:15581	ENSG00000008197	Q7Z6R9	Transcription factor AP-2-delta	gwas
KIRREL1	HGNC:15734	ENSG00000183853	Q96J84	Kin of IRRE-like protein 1	gwas
RALY	HGNC:15921	ENSG00000125970	Q9UKM9	RNA-binding protein Raly	gwas
CD34	HGNC:1662	ENSG00000174059	P28906	Hematopoietic progenitor cell antigen CD34	gwas
AMOTL2	HGNC:17812	ENSG00000114019	Q9Y2J4	Angiomotin-like protein 2	gwas
NTM	HGNC:17941	ENSG00000182667	Q9P121	Neurotrimin	gwas
ARID2	HGNC:18037	ENSG00000189079	Q68CP9	AT-rich interactive domain-containing protein 2	gwas
RBFOX1	HGNC:18222	ENSG00000078328	Q9NWB1	RNA binding protein fox-1 homolog 1	gwas
RCBTB1	HGNC:18243	ENSG00000136144	Q8NDN9	RCC1 and BTB domain-containing protein 1	gwas
ZNF366	HGNC:18316	ENSG00000178175	Q8N895	Zinc finger protein 366	gwas
ST18	HGNC:18695	ENSG00000147488	O60284	Suppression of tumorigenicity 18 protein	gwas
ZKSCAN8P1	HGNC:18777	ENSG00000226314		ZKSCAN8 pseudogene 1	gwas
TOX	HGNC:18988	ENSG00000198846	O94900	Thymocyte selection-associated high mobility group box protein TOX	gwas
GJD2	HGNC:19154	ENSG00000159248	Q9UKL4	Gap junction delta-2 protein	gwas
NPAS3	HGNC:19311	ENSG00000151322	Q8IXF0	Neuronal PAS domain-containing protein 3	gwas
BICC1	HGNC:19351	ENSG00000122870	Q9H694	Protein bicaudal C homolog 1	gwas
C14orf39	HGNC:19849	ENSG00000179008	Q8N1H7	Protein SIX6OS1	gwas
TTC8	HGNC:20087	ENSG00000165533	Q8TAM2	Tetratricopeptide repeat protein 8	gwas
LRFN5	HGNC:20360	ENSG00000165379	Q96NI6	Leucine-rich repeat and fibronectin type-III domain-containing protein 5	gwas
LYPLAL1	HGNC:20440	ENSG00000143353	Q5VWZ2	Lysophospholipase-like protein 1	gwas
TRAM1	HGNC:20568	ENSG00000067167	Q15629	Translocating chain-associated membrane protein 1	gwas
CLU	HGNC:2095	ENSG00000120885	P10909	Clusterin	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

showing 60 of 66 cohort genes:

Symbol	Protein name	Function (lead sentence)
RORB	Nuclear receptor ROR-beta	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.
BIN3	Bridging integrator 3	Involved in cytokinesis and septation where it has a role in the localization of F-actin.
CCL4	C-C motif chemokine 4	Monokine with inflammatory and chemokinetic properties.
BMP2	Bone morphogenetic protein 2	Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis.
BMP3	Bone morphogenetic protein 3	Growth factor of the TGF-beta superfamily that plays an essential role in developmental process by inducing and patterning early skeletal formation and by negatively regulating bone density.
BMP4	Bone morphogenetic protein 4	Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis.
SEMA3D	Semaphorin-3D	Induces the collapse and paralysis of neuronal growth cones.
SETMAR	Histone-lysine N-methyltransferase SETMAR	Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration.
SH3GL2	Endophilin-A1	Implicated in endocytosis.
ST8SIA1	Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase	Catalyzes the addition of sialic acid in alpha 2,8-linkage to the sialic acid moiety of the ganglioside GM3 to form ganglioside GD3; gangliosides are a subfamily of complex glycosphingolipds that contain one or more residues of sialic acid.
SIX3	Homeobox protein SIX3	Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes.
SIX6	Homeobox protein SIX6	May be involved in eye development.
SLC14A2	Urea transporter 2	Mediates the transport of urea driven by a concentration gradient across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism.
SNTB1	Beta-1-syntrophin	Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins.
SSR1	Translocon-associated protein subunit alpha	TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
SYN3	Synapsin-3	May be involved in the regulation of neurotransmitter release and synaptogenesis.
TCF7L2	Transcription factor 7-like 2	Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner.
TFAP2B	Transcription factor AP-2-beta	Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes.
TGFBR1	TGF-beta receptor type-1	Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3.
THRB	Thyroid hormone receptor beta	Nuclear hormone receptor that can act as a repressor or activator of transcription.
MPPED2	Metallophosphoesterase MPPED2	Displays low metallophosphoesterase activity (in vitro).
TJP2	Tight junction protein 2	Plays a role in tight junctions and adherens junctions.
TNFSF12	Tumor necrosis factor ligand superfamily member 12	Binds to FN14 and possibly also to TNRFSF12/APO3.
USP25	Ubiquitin carboxyl-terminal hydrolase 25	Deubiquitinating enzyme that hydrolyzes ubiquitin moieties conjugated to substrates and thus, functions in various biological processes including inflammation and immune response.
VIPR2	Vasoactive intestinal polypeptide receptor 2	G protein-coupled receptor activated by the neuropeptides vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase-activating polypeptide (ADCYAP1/PACAP).
ZIC2	Zinc finger protein ZIC 2	Acts as a transcriptional activator or repressor.
C4BPA	C4b-binding protein alpha chain	Controls the classical pathway of complement activation.
HIVEP3	Transcription factor HIVEP3	Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Also binds to the kappa-B motif of gene such as S100A4, involved in c…
CA8	Carbonic anhydrase-related protein	Does not have a carbonic anhydrase catalytic activity.
CACNA1D	Voltage-dependent L-type calcium channel subunit alpha-1D	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…
DSCAML1	Cell adhesion molecule DSCAML1	Cell adhesion molecule that plays a role in neuronal self-avoidance.
ZEB2	Zinc finger E-box-binding homeobox 2	Transcriptional inhibitor that binds to DNA sequence 5’-CACCT-3’ in different promoters.
DNAJB12	DnaJ homolog subfamily B member 12	Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway.
DYNLRB2	Dynein light chain roadblock-type 2	Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function.
TFAP2D	Transcription factor AP-2-delta	Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes.
KIRREL1	Kin of IRRE-like protein 1	Required for proper function of the glomerular filtration barrier.
RALY	RNA-binding protein Raly	RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver.
CD34	Hematopoietic progenitor cell antigen CD34	Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells.
AMOTL2	Angiomotin-like protein 2	Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites.
NTM	Neurotrimin	Neural cell adhesion molecule.
ARID2	AT-rich interactive domain-containing protein 2	Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
RBFOX1	RNA binding protein fox-1 homolog 1	RNA-binding protein that regulates alternative splicing events by binding to 5’-UGCAUGU-3’ elements.
RCBTB1	RCC1 and BTB domain-containing protein 1	May be involved in cell cycle regulation by chromatin remodeling.
ZNF366	Zinc finger protein 366	Has transcriptional repression activity.
ST18	Suppression of tumorigenicity 18 protein	Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5’-AAAGTTT-3’ separated by 2-9 nucleotides.
TOX	Thymocyte selection-associated high mobility group box protein TOX	Transcriptional regulator with a major role in neural stem cell commitment and corticogenesis as well as in lymphoid cell development and lymphoid tissue organogenesis.
GJD2	Gap junction delta-2 protein	One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.
NPAS3	Neuronal PAS domain-containing protein 3	May play a broad role in neurogenesis.
BICC1	Protein bicaudal C homolog 1	Putative RNA-binding protein.
C14orf39	Protein SIX6OS1	Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination.
TTC8	Tetratricopeptide repeat protein 8	The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia.
LRFN5	Leucine-rich repeat and fibronectin type-III domain-containing protein 5	Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner.
LYPLAL1	Lysophospholipase-like protein 1	Palmitoyl thioesterase that catalyzes depalmitoylation of CGAS and KCNMA1.
TRAM1	Translocating chain-associated membrane protein 1	Involved in the translocation of nascent protein chains into or through the endoplasmic reticulum (ER) membrane by facilitating the proper chain positioning at the SEC61 channel.
CLU	Clusterin	Functions as extracellular chaperone that prevents aggregation of non native proteins.
GALNT15	Polypeptide N-acetylgalactosaminyltransferase 15	Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.
ANTXR2	Anthrax toxin receptor 2	Necessary for cellular interactions with laminin and the extracellular matrix.
COL10A1	Collagen alpha-1(X) chain	Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage.
COL6A1	Collagen alpha-1(VI) chain	Collagen VI acts as a cell-binding protein.
TMC3	Transmembrane channel-like protein 3	Probable component of an ion channel.

Protein-family classification

Druggable: 19 · Difficult: 17 · Unknown: 39 · Druggable fraction: 0.25

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
Antibody/Immunoglobulin	8	3.1×	0.049
Nuclear receptor	2	10.3×	0.097
Complement	1	3.6×	0.735
Transcription factor	12	1.3×	0.735
Ion channel	1	1.5×	0.960
Scaffold/PPI	5	1.1×	0.960
Transporter	1	1.0×	0.960
Other/Unknown	39	0.9×	0.960
Protease	1	0.5×	0.960
Enzyme (other)	3	0.5×	0.960
Kinase	1	0.4×	0.960
GPCR	1	0.3×	0.960

Per-gene assignment

showing 60 of 75 cohort genes:

Symbol	Family	Druggable?	EC	InterPro (top 3)
RNU6-1	Other/Unknown	no
RORB	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
BIN3	Scaffold/PPI	no		BAR_dom, AH/BAR_dom_sf, Bin3_BAR
CCL4	Other/Unknown	no		Chemokine_CC_CS, Chemokine_IL8-like_dom, Interleukin_8-like_sf
BMP2	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
BMP3	Other/Unknown	no		TGF-b_C, TGF-beta-like, BMP3/BMP3B
BMP4	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
SEMA3D	Antibody/Immunoglobulin	yes		Semap_dom, Ig_sub, Ig-like_dom
SETMAR	Enzyme (other)	yes	2.1.1.357	SET_dom, Transposase_1, Post-SET_dom
SH3GL2	Scaffold/PPI	no		SH3_domain, BAR_dom, AH/BAR_dom_sf
ST8SIA1	Enzyme (other)	yes	2.4.3.8	Glyco_trans_29, Sialyl_trans, GT29-like_sf
SIX3	Transcription factor	no		HD, Homeodomain-like_sf, SIX1_SD
SIX6	Transcription factor	no		HD, Homeodomain-like_sf, SIX1_SD
SLC14A2	Transporter	yes		Urea_transporter, Ammonium/urea_transptr
SNTB1	Scaffold/PPI	no		PDZ, PH_domain, PH-like_dom_sf
SSR1	Other/Unknown	no		TRAP_alpha
SYN3	Other/Unknown	no		Synapsin, ATP_grasp_subdomain_1, PreATP-grasp_dom_sf
TCF7L2	Other/Unknown	no		HMG_box_dom, CTNNB1-bd_N, TCF/LEF
TFAP2B	Transcription factor	no		TF_AP2, TF_AP2_beta, TF_AP2_C
TGFBR1	Kinase	yes	2.7.10.2	TGFB_receptor, Activin_recp, Prot_kinase_dom
THRB	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
MPPED2	Other/Unknown	no		Calcineurin-like_PHP, Calcineurin-like_Pesterase, Metallo-depent_PP-like
TJP2	Scaffold/PPI	no		SH3_domain, PDZ, ZO
TNFSF12	Other/Unknown	no		TNF_dom, Tumour_necrosis_fac-like_dom, TNF_Ligand_Superfamily
USP25	Protease	yes		Peptidase_C19_UCH, UIM_dom, UBA-like_sf
VIPR2	GPCR	yes		GPCR_2_secretin-like, GPCR_2_VIP_rcpt, GPCR_2_extracellular_dom
ZIC2	Transcription factor	no		Zf-C2H2_type, Znf_C2H2_sf, Znf_ZIC
C4BPA	Complement	yes		Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, C4bp_oligo
HIVEP3	Transcription factor	no		Zf-C2H2_type, Znf_CCHC_HIVEP, Znf_C2H2_sf
CA8	Enzyme (other)	yes	4.2.1.1	CA_dom, Carbonic_anhydrase_a-class_CS, Carbonic_anhydrase_a-class
SCAND3	Transcription factor	no		Integrase_cat-core, SCAN_dom, RNaseH-like_sf
CACNA1D	Ion channel	yes		VDCCAlpha1, VDCC_L_a1su, LVDCC_a1dsu
CDRT15	Other/Unknown	no
ADAMTSL1	Antibody/Immunoglobulin	yes		TSP1_rpt, Ig_sub2, Ig_sub
DSCAML1	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
ZEB2	Transcription factor	no		HD, Di19_Zn-bd, Homeodomain-like_sf
DNAJB12	Other/Unknown	no		DnaJ_domain, DUF1977_DnaJ-like, DnaJ_domain_CS
DYNLRB2	Other/Unknown	no		Roadblock/LAMTOR2_dom, DYNLRB1/2
TFAP2D	Transcription factor	no		TF_AP2, TF_AP2_C
KIRREL1	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, Ig-like_dom
RALY	Other/Unknown	no		RRM_dom, Nucleotide-bd_a/b_plait_sf, hnRNP_C
CD34	Other/Unknown	no		CD34, CD34/Podocalyxin
AMOTL2	Other/Unknown	no		Angiomotin, Angiomotin_C, Angiomotin-like
NTM	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, Ig-like_dom
ARID2	Other/Unknown	no		ARID_dom, DNA-bd_RFX, Zf-C2H2_type
RBFOX1	Other/Unknown	no		RRM_dom, Nucleotide-bd_a/b_plait_sf, RBFOX1-3
RCBTB1	Other/Unknown	no		BTB/POZ_dom, Reg_chr_condens, RCC1/BLIP-II
ZNF366	Transcription factor	no		Zf-C2H2_type, Znf_C2H2_sf, C2H2-ZF_domain-containing
ST18	Transcription factor	no		Znf_C2H2C, Myelin_TF, Znf_C2H2C_sf
ZKSCAN8P1	Other/Unknown	no
TOX	Other/Unknown	no		HMG_box_dom, HMG_box_dom_sf, TOX_protein
GJD2	Other/Unknown	no		Connexin, Connexin36, Connexin_N
NPAS3	Transcription factor	no		PAS, bHLH_dom, PAS_fold_3
BICC1	Other/Unknown	no		SAM, KH_dom, KH_dom_type_1
C14orf39	Other/Unknown	no		SIX6OS1
TTC8	Other/Unknown	no		TPR-like_helical_dom_sf, TPR_rpt, BBS8
LRFN5	Antibody/Immunoglobulin	yes		Leu-rich_rpt, Leu-rich_rpt_typical-subtyp, Ig_sub2
LYPLAL1	Other/Unknown	no		PLipase/COase/thioEstase, AB_hydrolase_fold, LYPA1-2/EST-like
TRAM1	Other/Unknown	no		TLC-dom, Translocation_assoc_membrane
CLU	Other/Unknown	no		Clusterin-like, Clusterin_N, Clusterin_C

Expression context

Cohort genes with no expression data: 0.

69 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)	1
broad (>20)	74
unknown	0

Top tissues across cohort

20 tissues:

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	9
cortical plate	7
sural nerve	6
Brodmann (1909) area 23	6
endothelial cell	6
ventricular zone	6
primordial germ cell in gonad	6
calcaneal tendon	6
corpus callosum	5
middle temporal gyrus	5
buccal mucosa cell	5
pigmented layer of retina	4
ganglionic eminence	4
left testis	4
stromal cell of endometrium	4
adrenal tissue	3
right adrenal gland	3
right adrenal gland cortex	3
pancreatic ductal cell	3
tibia	3

Per-gene tissue summary

showing 60 of 75 cohort genes:

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RNU6-1	117	broad	yes	sural nerve, adrenal tissue, corpus callosum
RORB	196	broad	marker	endothelial cell, Brodmann (1909) area 23, middle temporal gyrus
BIN3	259	ubiquitous	marker	sural nerve, right adrenal gland cortex, right adrenal gland
CCL4	131	tissue_specific	marker	granulocyte, spleen, bone marrow
BMP2	238	broad	marker	cartilage tissue, pancreatic ductal cell, pigmented layer of retina
BMP3	126	tissue_specific	marker	muscle layer of sigmoid colon, male germ line stem cell (sensu Vertebrata) in testis, rectum
BMP4	189	ubiquitous	marker	pigmented layer of retina, retina, rectum
SEMA3D	183	ubiquitous	marker	buccal mucosa cell, tendon of biceps brachii, spleen
SETMAR	250	ubiquitous	marker	body of uterus, popliteal artery, tibial artery
SH3GL2	193	broad	marker	Brodmann (1909) area 23, middle temporal gyrus, endothelial cell
ST8SIA1	224	broad	marker	ventricular zone, ganglionic eminence, cortical plate
SIX3	92	broad	marker	pigmented layer of retina, retina, nasal cavity epithelium
SIX6	34	tissue_specific	marker	adenohypophysis, pituitary gland, cranial nerve II
SLC14A2	100	tissue_specific	marker	primordial germ cell in gonad, hair follicle, right adrenal gland
SNTB1	245	ubiquitous	marker	right adrenal gland, right adrenal gland cortex, left adrenal gland
SSR1	302	ubiquitous	marker	corpus epididymis, caput epididymis, trabecular bone tissue
SYN3	176	broad	marker	primordial germ cell in gonad, cortical plate, primary visual cortex
TCF7L2	291	ubiquitous	marker	lateral nuclear group of thalamus, endothelial cell, pancreatic ductal cell
TFAP2B	128	broad	marker	corpus epididymis, cauda epididymis, oocyte
TGFBR1	269	ubiquitous	marker	saphenous vein, tibia, visceral pleura
THRB	267	ubiquitous	marker	Brodmann (1909) area 23, middle temporal gyrus, tibia
MPPED2	255	broad	marker	ventricular zone, ganglionic eminence, cortical plate
TJP2	134	ubiquitous	marker	corpus callosum, descending thoracic aorta, thoracic aorta
TNFSF12	134	tissue_specific	marker	right coronary artery, thoracic aorta, ascending aorta
USP25	285	ubiquitous	marker	sperm, male germ cell, skeletal muscle tissue of rectus abdominis
VIPR2	169	broad	marker	mucosa of stomach, apex of heart, heart left ventricle
ZIC2	139	broad	marker	cerebellar cortex, cerebellar hemisphere, cerebellum
C4BPA	166	tissue_specific	marker	right lobe of liver, liver, lower lobe of lung
HIVEP3	234	ubiquitous	marker	buccal mucosa cell, endothelial cell, Brodmann (1909) area 23
CA8	184	broad	marker	metanephros cortex, right hemisphere of cerebellum, primordial germ cell in gonad
SCAND3	170	broad	yes	primordial germ cell in gonad, left testis, testis
CACNA1D	219	broad	marker	buccal mucosa cell, adrenal tissue, right lung
CDRT15	127		yes	right testis, male germ line stem cell (sensu Vertebrata) in testis, left testis
ADAMTSL1	182	ubiquitous	marker	lower esophagus muscularis layer, lower esophagus, sural nerve
DSCAML1	187	broad	marker	cortical plate, germinal epithelium of ovary, C1 segment of cervical spinal cord
ZEB2	290	ubiquitous	marker	cortical plate, sural nerve, monocyte
DNAJB12	290	ubiquitous	marker	tongue squamous epithelium, diaphragm, type B pancreatic cell
DYNLRB2	182	broad	marker	bronchial epithelial cell, right uterine tube, bronchus
TFAP2D	25		marker	oocyte, buccal mucosa cell, secondary oocyte
KIRREL1	207	ubiquitous	marker	stromal cell of endometrium, right coronary artery, descending thoracic aorta
RALY	294	ubiquitous	marker	ganglionic eminence, granulocyte, ventricular zone
CD34	220	broad	marker	apex of heart, right atrium auricular region, omental fat pad
AMOTL2	289	ubiquitous	marker	amniotic fluid, sural nerve, mammary duct
NTM	231	ubiquitous	marker	right hemisphere of cerebellum, cerebellar cortex, cerebellar hemisphere
ARID2	253	ubiquitous	marker	sperm, pancreatic ductal cell, secondary oocyte
RBFOX1	220	broad	marker	middle temporal gyrus, Brodmann (1909) area 23, cortical plate
RCBTB1	280	ubiquitous	marker	mucosa of paranasal sinus, pigmented layer of retina, decidua
ZNF366	157	broad	marker	sural nerve, male germ line stem cell (sensu Vertebrata) in testis, colonic epithelium
ST18	192	broad	marker	corpus callosum, C1 segment of cervical spinal cord, spinal cord
ZKSCAN8P1	133	broad	yes	male germ line stem cell (sensu Vertebrata) in testis, corpus callosum, right hemisphere of cerebellum
TOX	231	ubiquitous	marker	cortical plate, endothelial cell, ventricular zone
GJD2	70	tissue_specific	marker	islet of Langerhans, primordial germ cell in gonad, tongue squamous epithelium
NPAS3	215	broad	marker	endothelial cell, ventricular zone, corpus callosum
BICC1	236	ubiquitous	marker	germinal epithelium of ovary, renal medulla, parietal pleura
C14orf39	129	broad	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, adenohypophysis
TTC8	247	ubiquitous	marker	left ovary, islet of Langerhans, adrenal tissue
LRFN5	195	broad	marker	middle temporal gyrus, Brodmann (1909) area 23, Brodmann (1909) area 46
LYPLAL1	255	ubiquitous	marker	kidney epithelium, left ventricle myocardium, calcaneal tendon
TRAM1	303	ubiquitous	marker	choroid plexus epithelium, visceral pleura, germinal epithelium of ovary
CLU	294	ubiquitous	marker	lateral globus pallidus, calcaneal tendon, paraflocculus

Protein interactions among cohort

Intra-cohort edges: 11.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CD34	4,757
CLU	4,040
BMP4	3,892
TGFBR1	3,529
TCF7L2	3,311
CCL4	3,196
PNPT1	3,041
ZEB2	2,986
BMP2	2,819
TJP2	2,735

Intra-cohort edges

11 intra-cohort edges:

A	B	Sources
BMP4	CLU	biogrid_interaction
BMP4	SIX6	string_interaction
CAGE1	MPPED2	biogrid_interaction
CLU	TFAP2D	biogrid_interaction
CLU	TGFBR1	biogrid_interaction
KCTD15	TFAP2B	string_interaction
LYPLAL1	TFAP2B	string_interaction
NPAS3	RBFOX1	string_interaction
SIX3	SIX6	biogrid_interaction
SIX3	ZIC2	string_interaction
TFAP2B	TFAP2D	biogrid_interaction

Structural data

PDB: 42 · AlphaFold-only: 31 · No structure: 2

Cohort genes with PDB structures

30 cohort genes:

Symbol	UniProt	PDB entries
TGFBR1	P36897	45
THRB	P10828	34
GJD2	Q9UKL4	24
BMP2	P12643	21
ANTXR2	P58335	14
SLC14A2	Q15849	11
PNPT1	Q8TCS8	11
C4BPA	P04003	9
L3MBTL3	Q96JM7	9
CCL4	P13236	8
USP25	Q9UHP3	7
CACNA1D	Q01668	6
SETMAR	Q53H47	5
SH3GL2	Q99962	4
RBFOX1	Q9NWB1	4
LRFN5	Q96NI6	4
SSR1	P43307	3
TCF7L2	Q9NQB0	3
VIPR2	P41587	3
BICC1	Q9H694	3
SNTB1	Q13884	2
TJP2	Q9UDY2	2
NTM	Q9P121	2
ARID2	Q68CP9	2
LYPLAL1	Q5VWZ2	2
CLU	P10909	2
KCTD15	Q96SI1	2
BMP3	P12645	1
SYN3	O14994	1
TFAP2B	Q92481	1

AlphaFold-only cohort genes (by pLDDT)

30 cohort genes:

Symbol	UniProt	pLDDT
MPPED2	Q15777	95.43
RCBTB1	Q8NDN9	92.98
BIN3	Q9NQY0	92.83
ST8SIA1	Q92185	88.71
TRAM1	Q15629	84.56
TTC8	Q8TAM2	84.48
SEMA3D	O95025	84.10
SIX6	O95475	81.68
RORB	Q92753	79.48
BMP4	P12644	79.12
LRMDA	Q9H2I8	78.40
GALNT15	Q8N3T1	77.98
LRIT2	A6NDA9	77.76
KIRREL1	Q96J84	75.58
LRIT1	Q9P2V4	73.66
SCAND3	Q6R2W3	72.39
ADAMTSL1	Q8N6G6	71.26
SIX3	O95343	70.38
AMOTL2	Q9Y2J4	67.35
CAGE1	Q8TC20	63.17
TFAP2D	Q7Z6R9	62.75
CD34	P28906	60.99
TMC3	Q7Z5M5	59.93
C14orf39	Q8N1H7	58.97
ZNF366	Q8N895	57.54
NPAS3	Q8IXF0	56.50
TOX	O94900	54.57
CDRT15	Q96T59	52.21
ZIC2	O95409	51.36
LINC00862	A6NCI5	50.09

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 592. Enrichment computed across 173 evidence-associated genes (97 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 97 annotated cohort genes). Counts and members are kept as ground-truth.

30 pathways by enrichment:

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Signal Transduction	37	3.9×	4e-11	CCL4, BMP2, SH3GL2, TCF7L2, TGFBR1, TJP2, VIPR2, AMOTL2 (+29 more)
Neuronal System	14	6.4×	1e-05	SYN3, GJD2, DLG2, GABRR1, GNB3, GRIA4, GRIK1, GRIN2B (+6 more)
Neurotransmitter receptors and postsynaptic signal transmission	9	9.3×	8e-05	DLG2, GABRR1, GNB3, GRIA4, GRIK1, GRIN2B, KCNJ2, KCNJ5 (+1 more)
Transmission across Chemical Synapses	10	7.8×	8e-05	SYN3, DLG2, GABRR1, GNB3, GRIA4, GRIK1, GRIN2B, KCNJ2 (+2 more)
Gastrulation	6	16.1×	2e-04	BMP4, TCF7L2, TFAP2B, ZIC2, ZEB2, NOG
Metabolism of proteins	23	2.9×	2e-04	BMP4, ST8SIA1, SSR1, TCF7L2, TFAP2B, TGFBR1, THRB, USP25 (+15 more)
Signaling by Receptor Tyrosine Kinases	11	5.9×	2e-04	SH3GL2, COL6A1, APH1B, ALKAL2, EGR3, ALKAL1, FLT1, GRIN2B (+3 more)
Sensory Perception	8	7.8×	6e-04	CACNA1D, CAMKMT, GNB3, GPC5, GPC6, KCNJ2, KCNMA1, RDH5
Post-translational protein modification	17	3.4×	6e-04	BMP4, ST8SIA1, TFAP2B, TGFBR1, THRB, USP25, ADAMTSL1, NTM (+9 more)
Activation of kainate receptors upon glutamate binding	2	117.7×	0.003	GNB3, GRIK1
G protein gated Potassium channels	3	35.3×	0.003	GNB3, KCNJ2, KCNJ5
Negative regulation of activity of TFAP2 (AP-2) family transcription factors	3	35.3×	0.003	TFAP2B, TFAP2D, KCTD15
Potassium Channels	6	8.3×	0.004	GNB3, KCNA4, KCNJ2, KCNJ5, KCNMA1, KCNQ5
Extracellular matrix organization	8	5.2×	0.006	BMP2, BMP4, SNTB1, COL10A1, COL6A1, EFEMP1, FBN1, LAMA2
Signaling by GPCR	10	4.1×	0.006	CCL4, VIPR2, CD55, DRD1, FSHB, GNB3, GRM3, PDE10A (+2 more)
CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling	3	27.2×	0.006	DLG2, GRIN2B, RASGRF1
Elastic fibre formation	4	13.8×	0.006	BMP2, BMP4, EFEMP1, FBN1
Signaling by TGFB family members	6	7.1×	0.006	BMP2, TGFBR1, APH1B, FBN1, MYCN, NOG
Nitric oxide stimulates guanylate cyclase	3	25.2×	0.006	KCNMA1, PDE10A, PDE11A
GABA receptor activation	4	13.1×	0.007	GABRR1, GNB3, KCNJ2, KCNJ5
Molecules associated with elastic fibres	4	12.7×	0.007	BMP2, BMP4, EFEMP1, FBN1
Inwardly rectifying K+ channels	3	22.1×	0.008	GNB3, KCNJ2, KCNJ5
cGMP effects	3	22.1×	0.008	KCNMA1, PDE10A, PDE11A
Developmental Biology	17	2.5×	0.008	BMP4, SH3GL2, TCF7L2, TFAP2B, ZIC2, CACNA1D, DSCAML1, ZEB2 (+9 more)
Platelet homeostasis	4	11.5×	0.008	GNB3, KCNMA1, PDE10A, PDE11A
Signaling by Nuclear Receptors	6	6.3×	0.008	CYP26A1, GNB3, AREG, NCOA2, NRIP1, RDH5
G alpha (s) signalling events	7	5.3×	0.008	VIPR2, DRD1, FSHB, GNB3, PDE10A, PDE11A, PDE3A
GPCR downstream signalling	9	4.0×	0.008	CCL4, VIPR2, DRD1, FSHB, GNB3, GRM3, PDE10A, PDE11A (+1 more)
RNA Polymerase II Transcription	13	3.0×	0.008	RORB, BMP2, TCF7L2, TFAP2B, THRB, HIVEP3, TFAP2D, ARID2 (+5 more)
Complement cascade	3	19.6×	0.008	C4BPA, CLU, CD55

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 144 annotated cohort genes). Counts and members are kept as ground-truth.

30 GO terms by enrichment:

GO term	Cohort genes	Fold	FDR	Sample cohort genes
DNA-templated transcription	24	37.5×	5e-29	RORB, SIX3, TCF7L2, TFAP2B, THRB, ZIC2, HIVEP3, ZEB2 (+16 more)
positive regulation of ERK5 cascade	2	117.0×	0.033	ALKAL2, ALKAL1
post-embryonic eye morphogenesis	2	78.0×	0.065	EFEMP1, FBN1
regulation of hormone metabolic process	2	46.8×	0.065	TCF7L2, GNB3
myofibroblast differentiation	2	46.8×	0.065	TGFBR1, ZEB2
positive regulation of odontogenesis	2	46.8×	0.065	BMP2, CD34
negative regulation of complement activation	2	46.8×	0.065	CLU, CD55
telencephalon development	3	20.6×	0.065	BMP2, BMP4, SIX3
glutamate receptor signaling pathway	3	19.5×	0.065	GRIA4, GRIK1, GRIN2B
camera-type eye development	4	10.0×	0.065	SNTB1, EFEMP1, FBN1, PRSS56
negative regulation of receptor guanylyl cyclase signaling pathway	2	39.0×	0.070	PDE10A, PDE11A
telencephalon regionalization	2	39.0×	0.070	BMP2, SIX3
positive regulation of epithelial to mesenchymal transition	4	8.8×	0.070	BMP2, BMP4, TCF7L2, TGFBR1
skeletal system development	6	5.2×	0.070	BMP2, BMP3, TGFBR1, COL10A1, FBN1, NOG
ventricular compact myocardium morphogenesis	2	33.4×	0.084	TGFBR1, NOG
positive regulation of odontoblast differentiation	2	33.4×	0.084	BMP2, BMP4
heart induction	2	29.3×	0.085	BMP2, BMP4
DNA integration	2	29.3×	0.085	SETMAR, SCAND3
mesenchymal cell differentiation	2	29.3×	0.085	BMP2, TGFBR1
negative regulation of cAMP/PKA signal transduction	3	12.5×	0.085	PDE10A, PDE11A, PDE3A
central nervous system development	6	4.8×	0.085	SH3GL2, ZIC2, DSCAML1, ZEB2, CYP26A1, GRIK1
complement activation, classical pathway	3	11.3×	0.092	C4BPA, CLU, CD55
visual perception	7	3.9×	0.092	RORB, SIX3, SIX6, ZIC2, LRIT1, EFEMP1, RDH5
ovarian follicle rupture	1	117.0×	0.099	NRIP1
NK T cell lineage commitment	1	117.0×	0.099	TOX
proximal/distal axis specification	1	117.0×	0.099	SIX3
regulation of skeletal muscle contraction via regulation of action potential	1	117.0×	0.099	KCNJ2
RNA import into mitochondrion	1	117.0×	0.099	PNPT1
vascular endothelial growth factor receptor-1 signaling pathway	1	117.0×	0.099	FLT1
extracellular structure organization	1	117.0×	0.099	TGFBR1

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

3 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Carboxymethylcellulose Sodium	Phase 2
Glycerin	Phase 2
Riboflavin	Phase 2

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 6 · Phased (≥1): 7 · Undrugged: 68

Druggability breadth: 57 of 173 evidence-associated genes (33%) 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
RORB	Tretinoin
TGFBR1	Crizotinib
THRB	Resmetirom
CACNA1D	Amiodarone
L3MBTL3	Chlorpheniramine

Top cohort targets by molecule count

Symbol	Molecules	Max phase
THRB	117	4
CACNA1D	48	4
TGFBR1	28	4
RORB	2	4
VIPR2	2	3
SSR1	1	2
L3MBTL3	1	4
RNU6-1	0	0
BIN3	0	0
CCL4	0	0

Drugs targeting cohort genes

30 drugs:

Molecule	Max phase	Targets in cohort
Tretinoin	4	RORB
Crizotinib	4	TGFBR1
Dabrafenib	4	TGFBR1
Dasatinib	4	CACNA1D, TGFBR1
Momelotinib	4	TGFBR1
Nintedanib	4	TGFBR1
Resmetirom	4	THRB
Acetazolamide	4	THRB
Acetohexamide	4	THRB
Acetylcysteine	4	THRB
Altretamine	4	THRB
Amantadine Hydrochloride	4	THRB
Amiloride Hydrochloride	4	THRB
Aminocaproic Acid	4	THRB
Aminopyrine	4	THRB
Amiodarone	4	CACNA1D, THRB
Amoxapine	4	THRB
Atorvastatin	4	THRB
Azaribine	4	THRB
Benzbromarone	4	THRB
Bisoprolol Fumarate	4	THRB
Bithionol	4	THRB
Carbetapentane	4	THRB
Chlormadinone Acetate	4	THRB
Chlormezanone	4	THRB
Chlorpropamide	4	THRB
Clomipramine Hydrochloride	4	THRB
Cyclothiazide	4	THRB
Cytarabine	4	THRB
Daunorubicin	4	THRB

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

Cohort genes with ChEMBL bioactivity

18 cohort genes by assay count:

Symbol	Assays	Type breakdown
TGFBR1	541	Binding:516, Functional:13, ADMET:12
CACNA1D	233	Binding:145, Functional:81, Toxicity:5, ADMET:2
THRB	169	Binding:129, Functional:40
RORB	90	Binding:87, Functional:3
L3MBTL3	50	Binding:49, Functional:1
VIPR2	27	Functional:14, Binding:13
BMP2	22	Binding:18, Functional:4
TCF7L2	22	Binding:22
USP25	19	Binding:19
SSR1	7	Binding:7
ARID2	7	Binding:7
ANTXR2	3	Binding:3
BMP4	2	Binding:2
LYPLAL1	2	Binding:2
BIN3	1	Binding:1
SETMAR	1	Binding:1
DNAJB12	1	Binding:1
TRAM1	1	Binding:1

Cohort enzymes (BRENDA EC)

5 cohort enzymes:

Symbol	EC numbers	Names
SETMAR	2.1.1.357, 2.7.7.B22	[histone H3]-lysine36 N-dimethyltransferase,
ST8SIA1	2.4.3.8	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase
TGFBR1	2.7.10.2, 2.7.11.30	non-specific protein-tyrosine kinase, receptor protein serine/threonine kinase
CA8	4.2.1.1	carbonic anhydrase
PNPT1	2.7.7.8	polyribonucleotide nucleotidyltransferase

Cohort genes with high screening signal

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

3 cohort genes:

Symbol	ChEMBL assays
TGFBR1	541
THRB	169
CACNA1D	233

Pharmacogenomics

Cohort genes with a PharmGKB record: 75; 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.

30 compounds:

Compound	Max phase	Cohort target (bioactivity)
Tretinoin	4	RORB
Crizotinib	4	TGFBR1
Dabrafenib	4	TGFBR1
Dasatinib	4	CACNA1D, TGFBR1
Momelotinib	4	TGFBR1
Nintedanib	4	TGFBR1
Resmetirom	4	THRB
Acetazolamide	4	THRB
Acetohexamide	4	THRB
Acetylcysteine	4	THRB
Altretamine	4	THRB
Amantadine Hydrochloride	4	THRB
Amiloride Hydrochloride	4	THRB
Aminocaproic Acid	4	THRB
Aminopyrine	4	THRB
Amiodarone	4	CACNA1D, THRB
Amoxapine	4	THRB
Atorvastatin	4	THRB
Azaribine	4	THRB
Benzbromarone	4	THRB
Bisoprolol Fumarate	4	THRB
Bithionol	4	THRB
Carbetapentane	4	THRB
Chlormadinone Acetate	4	THRB
Chlormezanone	4	THRB
Chlorpropamide	4	THRB
Clomipramine Hydrochloride	4	THRB
Cyclothiazide	4	THRB
Cytarabine	4	THRB
Daunorubicin	4	THRB

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	5	RORB, TGFBR1, THRB, CACNA1D, L3MBTL3
B	Phased (≥1) drug, not yet approved	2	SSR1, VIPR2
C	Druggable family + PDB, no drug	8	SETMAR, SLC14A2, USP25, C4BPA, CA8, DSCAML1, NTM, LRFN5
D	Druggable family + AlphaFold only, no drug	6	SEMA3D, ST8SIA1, ADAMTSL1, KIRREL1, LRIT1, LRIT2
E	Difficult family or no structure, no drug	54	RNU6-1, BIN3, CCL4, BMP2, BMP3, BMP4, SH3GL2, SIX3, SIX6, SNTB1 (+44 more)

Undrugged target profiles

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

showing 60 of 68 cohort genes:

Symbol	ChEMBL assays	Drugged partners (top 3)
RNU6-1	0	—
BIN3	1	—
CCL4	0	—
BMP2	22	—
BMP3	0	—
BMP4	2	—
SEMA3D	0	—
SETMAR	1	—
SH3GL2	0	—
ST8SIA1	0	—
SIX3	0	—
SIX6	0	—
SLC14A2	0	—
SNTB1	0	—
SYN3	0	—
TCF7L2	22	—
TFAP2B	0	—
MPPED2	0	—
TJP2	0	—
TNFSF12	0	—
USP25	19	—
ZIC2	0	—
C4BPA	0	—
HIVEP3	0	—
CA8	0	—
SCAND3	0	—
CDRT15	0	—
ADAMTSL1	0	—
DSCAML1	0	—
ZEB2	0	—
DNAJB12	1	—
DYNLRB2	0	—
TFAP2D	0	—
KIRREL1	0	—
RALY	0	—
CD34	0	—
AMOTL2	0	—
NTM	0	—
ARID2	7	—
RBFOX1	0	—
RCBTB1	0	—
ZNF366	0	—
ST18	0	—
ZKSCAN8P1	0	—
TOX	0	—
GJD2	0	—
NPAS3	0	—
BICC1	0	—
C14orf39	0	—
TTC8	0	—
LRFN5	0	—
LYPLAL1	2	—
TRAM1	1	—
CLU	0	—
GALNT15	0	—
CAGE1	0	—
CCZ1B	0	—
ANTXR2	3	—
COL10A1	0	—
LINC00862	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 296.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	274
Phase 3	8
Phase 4	6
Phase 2	5
Phase 1	2
Phase 2/3	1

Top trials by phase / activity

showing 40 of 296 trials:

NCT	Phase	Status	Sponsor	Title
NCT00348621	Phase 4	COMPLETED	Johns Hopkins University	A Study of Interventions to Reduce Disability From Visual Loss in Nursing Home Residents
NCT01250925	Phase 4	COMPLETED	Massachusetts Eye and Ear Infirmary	Effect of Contact Lens Wear on Immune Cell Density and Morphology of the Ocular Surface
NCT02177539	Phase 4	UNKNOWN	Pontificia Universidad Catolica de Chile	A New More Efficient Cycloplegia Scheme
NCT04283331	Phase 4	UNKNOWN	Beeran Meghpara, MD	Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK)
NCT05449015	Phase 4	UNKNOWN	Shanghai Eye Disease Prevention and Treatment Center	Study on the Effect of Two Ways of Cycloplegia on Biological Parameters of Ciliary Muscle
NCT06077682	Phase 4	UNKNOWN	Islamic Hospital, Jordan	Cycloplegic Refraction in Pediatric Patients With Esotropia
NCT00038753	Phase 3	UNKNOWN	National Eye Institute (NEI)	Vision In Preschoolers Study (VIP Study)
NCT00317525	Phase 3	COMPLETED	American Optometric Association	Effects of Different Add Powers on the Comfort and Productivity of Computer Users With Fixed or Free Head Movement
NCT00318045	Phase 3	UNKNOWN	Vision Council of America	Effects of Optical Blur on Performance and Comfort of Computer Users
NCT00585026	Phase 3	TERMINATED	University of Alabama at Birmingham	Randomized Clinical Trial of Bifocal Lenses Versus Computer-specific Progressive Addition Lenses
NCT01322919	Phase 3	COMPLETED	Technolas Perfect Vision GmbH	Safety and Efficacy Study to Evaluate the Treatment of Both Near and Distance Vision in a Simultaneous Laser Procedure
NCT04465279	Phase 2/3	COMPLETED	Alexandria University	Trifocal Diffractive Intraocular Lens After Cataract Extraction With Phacoemulsification
NCT05656027	Phase 3	COMPLETED	LENZ Therapeutics, Inc	Phase 3 Evaluation of the Safety and Efficacy of LNZ100 & LNZ101 for the Treatment of Presbyopia
NCT05728944	Phase 3	COMPLETED	LENZ Therapeutics, Inc	Phase 3 Efficacy Study of LNZ100 & LNZ101 for the Treatment of Presbyopia
NCT05753189	Phase 3	COMPLETED	LENZ Therapeutics, Inc	Phase 3 Safety Study of LNZ100 and LNZ101 for the Treatment of Presbyopia Subjects
NCT00918697	Phase 2	COMPLETED	Shahid Beheshti University of Medical Sciences	Mechanical Versus Alcohol Epithelial Debridement During Hotorefractive Keratectomy (PRK)
NCT03552016	Phase 2	WITHDRAWN	University of Missouri-Columbia	Evaluation of Progression of Myopia in Children Treated With Vitamin B2 and Outdoor Sunlight Exposure
NCT05059041	Phase 2	COMPLETED	Ohio State University	Dilated Versus Non-Dilated Wavefront Corrections for Patients With Down Syndrome
NCT05294328	Phase 2	COMPLETED	LENZ Therapeutics, Inc	Evaluation of the Safety and Effectiveness of Aceclidine/Brimonidine (LNZ101) and Aceclidine (LNZ100) in the Treatment of Presbyopia
NCT05431543	Phase 2	COMPLETED	LENZ Therapeutics, Inc	Evaluation of the Safety and Effectiveness of Aceclidine (LNZ101) and Aceclidine + Brimonidine (LNZ100) in the Treatment of Presbyopia
NCT01122004	Phase 1	UNKNOWN	Shahid Beheshti University of Medical Sciences	The Effect of Gabapentin (Neurentin) and Pregabalin (Lyrica) in Pain Reduction After Photorefractive Keratectomy
NCT05936489	Phase 1	COMPLETED	LENZ Therapeutics, Inc	Plasma Pharmacokinetics and Safety of LNZ101 and LNZ100 Ophthalmic Solutions in Healthy Adult Subjects With Presbyopia
NCT03030755	Not specified	RECRUITING	The Cleveland Clinic	Corneal Elastography and Patient Specific Modeling
NCT04077086	Not specified	ACTIVE_NOT_RECRUITING	Queen’s University, Belfast	Correcting Myopia Among Secondary School Children to Increase Academic High School Attendance Rates in Rural Communities
NCT04632784	Not specified	ACTIVE_NOT_RECRUITING	Ophtec BV	Clinical Trial With Artiflex Presbyopic (Artiplus)
NCT04740593	Not specified	ACTIVE_NOT_RECRUITING	Erasmus Medical Center	The Effect of Early Glasses on the Development of Amblyopia
NCT04793893	Not specified	ACTIVE_NOT_RECRUITING	Eye Hospital Pristina Kosovo	Treatment of Residual Hypermetropic Refraction on Young Patients After LASIK Using Human Fresh Corneal Lenticule Implantation With ReLEX Smile Surgery
NCT05458323	Not specified	RECRUITING	Queen’s University, Belfast	Cognitive Level Enhancement Through Vision Exams and Refraction
NCT05550740	Not specified	ACTIVE_NOT_RECRUITING	Shanghai Eye Disease Prevention and Treatment Center	Repeated Low-Level Red-Light Therapy for Shortening Axial Length
NCT05670626	Not specified	ENROLLING_BY_INVITATION	Kasr El Aini Hospital	Correlation Between Preoperative Refraction and Anterior Segment Parameters With ICL Vault
NCT05733182	Not specified	RECRUITING	The Hong Kong Polytechnic University	Effect of Colour Temperature of Reading Lamp on Refractive Error Development
NCT05856786	Not specified	RECRUITING	University of Nebraska	To Study the Effects of Refractive Surgery on OCT Measurements in the Eye
NCT06849895	Not specified	NOT_YET_RECRUITING	Shanghai Eye Disease Prevention and Treatment Center	Real-World Study of Myopia Prevention and Control in Children
NCT06913491	Not specified	ACTIVE_NOT_RECRUITING	Superior University	Efficacy of PEEK Acuity Versus ETDRS Chart for Assessment of Visual Acuity and Refractive Error
NCT06996353	Not specified	RECRUITING	London Vision Clinic	Clinical Data Collection of Myopic Patients After PTK-PRK With CZM MEL 90 Excimer Laser
NCT07001124	Not specified	ACTIVE_NOT_RECRUITING	Superior University	Comparative Efficacy of Duochrome Test Verse +1 Blur Test in Detecting Refracting Error Across Different Ages
NCT07240480	Not specified	NOT_YET_RECRUITING	Trakya University	Assessing the Turkish DDIVAT for Visual Acuity Measurement
NCT07241806	Not specified	NOT_YET_RECRUITING	Assiut University	Measurment of Optic Disc Parameters, RNFL Thickness and Ganglion Cell Complex in Myopic, Hypermetropic and Emmetropic Patients Using OCT and Axial Length Measurments
NCT07257536	Not specified	NOT_YET_RECRUITING	Zhongshan Ophthalmic Center, Sun Yat-sen University	Xinxing Eye Cohort Study
NCT07333248	Not specified	NOT_YET_RECRUITING	Seva Canada Society	Strengthening Community- to- Hospital Eye Care Pathways From Boko Eye Care Center in Rural Assam

Drugs tested across these trials

28 drugs:

Molecule	Max phase	Trials referencing
Brimonidine	4	8
Cyclopentolate	4	2
Proparacaine	4	2
Tropicamide	4	2
Benoxinate	4	1
Hydrogen Peroxide	4	1
Phenylephrine	4	1
Riboflavin	4	1
Tobramycin	4	1
Aceclidine	3	6
Etafilcon A	3	6
Senofilcon A	3	4
Comfilcon A	3	2
Nelfilcon A	3	2
Astaxanthin	3	1
Enfilcon A	3	1
Galyfilcon A	3	1
Lotrafilcon B	3	1
Maxacalcitol	3	1
Ocufilcon D	3	1
Balafilcon A	1	1
CHEMBL1457550	0	2
CHEMBL511565	0	1
CHEMBL5267279	0	1
CHEMBL4127074	0	1
CHEMBL1358053	0	1
Hefilcon A	-1	1
Nesofilcon A	-1	1

Other drugs named in trials

Drugs named in these trials’ interventions but not in the ChEMBL table above — includes investigational drugs not yet in ChEMBL. Linked where an Atlas drug page exists.

14 drugs named in trials:

Drug	Max trial phase
1% atropine	Phase 4
Cyclopentolate+tropicamide+phenylephrine	Phase 4
Proparacaine Ophthalmic	Phase 4
Aceclidine ophthalmic solution	Phase 3
Aceclidine+Brimonidine combination ophthalmic solution	Phase 3
Oral Riboflavin	Phase 2
Aceclidine + Brimonidine	Phase 1
Pregabalin	Phase 1
Atropine Sulfate 0.05% Ophthalmic Solution	Not specified
FID 114657 eye drops (10 ml)	Not specified
Ofloxacin	Not specified
Oxybuprocaine 0.4%	Not specified
Proxymetacaine 0.5%	Not specified
Tobramycin and dexamethasone	Not specified