Enophthalmos

Summary

Enophthalmos (MONDO:0001210) is a disease with 8 cohort genes and 2 clinical trials.

At a glance

• Cohort genes: 8
• ClinVar variants: 23
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	enophthalmos
Mondo ID	MONDO:0001210
MeSH	D015841
DOID	DOID:11175
ICD-10-CM	H05.4
ICD-11	1783631381
SNOMED CT	80093006
UMLS	C0423224
MedGen	473112
Is cancer (heuristic)	no

Also known as: enophthalmos · enophthalmos (disease)

Data availability: 23 ClinVar variants · 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye adnexa disorder › disease of orbital part of eye adnexa › enophthalmos

Related subtypes (8): acute orbital inflammation, endocrine exophthalmos, lateral displacement of eye, intermittent proptosis, pulsating exophthalmos, chronic orbital inflammation, orbital cyst, constant exophthalmos

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

23 retrieved; paginated sample, class counts are floors:

13 pathogenic, 4 uncertain significance, 3 pathogenic/likely pathogenic, 2 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
267812	46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn		Pathogenic	criteria provided, single submitter
267830	46;X;t(X;5)(q24;q13)dn		Pathogenic	criteria provided, single submitter
268036	46;XX;t(2;10)(q22;22.3)dn		Pathogenic	criteria provided, single submitter
520596	NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	CSNK2B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
162157	NC_000021.8:g.(?38007970)(39747620_?)del	DSCR4	Pathogenic	no assertion criteria provided
162152	NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)	DYRK1A	Pathogenic	criteria provided, multiple submitters, no conflicts
162153	NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	DYRK1A	Pathogenic	criteria provided, multiple submitters, no conflicts
162154	NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)	DYRK1A	Pathogenic	criteria provided, single submitter
162156	NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)	DYRK1A	Pathogenic	no assertion criteria provided
162158	NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)	DYRK1A	Pathogenic	criteria provided, multiple submitters, no conflicts
162159	NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)	DYRK1A	Pathogenic	no assertion criteria provided
162161	NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)	DYRK1A	Pathogenic	criteria provided, single submitter
1173069	NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)	MCM7	Pathogenic	criteria provided, multiple submitters, no conflicts
1804007	NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)	MCM7	Pathogenic	criteria provided, single submitter
3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
449095	NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)	SBDS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
268014	46;XY;inv(2)(q11.2q33)dn		Likely pathogenic	criteria provided, single submitter
162155	NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro)	DYRK1A	Likely pathogenic	no assertion criteria provided
205066	NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)	CHRNB2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
267831	46;Y;inv(X)(q27q28)		Uncertain significance	criteria provided, single submitter
162160	NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)	DYRK1A	Uncertain significance	criteria provided, single submitter
523482	NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)	GLI2	Uncertain significance	criteria provided, single submitter
2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 17 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SBDS	Orphanet:622934	SBDS-related severe neonatal spondylometaphyseal dysplasia
SBDS	Orphanet:811	Shwachman-Diamond syndrome
SBDS	Orphanet:88	Idiopathic aplastic anemia
CHRNB2	Orphanet:98784	Sleep-related hypermotor epilepsy
CSNK2B	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
CSNK2B	Orphanet:689397	Poirier-Bienvenu neurodevelopmental syndrome
DYRK1A	Orphanet:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A	Orphanet:464311	Intellectual disability syndrome due to a DYRK1A point mutation
GLI2	Orphanet:220386	Semilobar holoprosencephaly
GLI2	Orphanet:280195	Septopreoptic holoprosencephaly
GLI2	Orphanet:280200	Microform holoprosencephaly
GLI2	Orphanet:420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2	Orphanet:93924	Lobar holoprosencephaly
GLI2	Orphanet:93925	Alobar holoprosencephaly
GLI2	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly
GLI2	Orphanet:95494	Combined pituitary hormone deficiencies, genetic forms
MCM7	Orphanet:2512	Autosomal recessive primary microcephaly

Cohort genes → proteins

8 cohort genes, 8 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	8

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SBDS	HGNC:19440	ENSG00000126524	Q9Y3A5	Ribosome maturation protein SBDS	clinvar
CHRNB2	HGNC:1962	ENSG00000160716	P17787	Neuronal acetylcholine receptor subunit beta-2	clinvar
CSNK2B	HGNC:2460	ENSG00000204435	P67870	Casein kinase II subunit beta	clinvar
DSCR4	HGNC:3045	ENSG00000184029	P56555	Down syndrome critical region protein 4	clinvar
DYRK1A	HGNC:3091	ENSG00000157540	Q13627	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	clinvar
GLI2	HGNC:4318	ENSG00000074047	P10070	Zinc finger protein GLI2	clinvar
MCM7	HGNC:6950	ENSG00000166508	P33993	DNA replication licensing factor MCM7	clinvar
PTK2	HGNC:9611	ENSG00000169398	Q05397	Focal adhesion kinase 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SBDS	Ribosome maturation protein SBDS	Required for the assembly of mature ribosomes and ribosome biogenesis.
CHRNB2	Neuronal acetylcholine receptor subunit beta-2	Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection…
CSNK2B	Casein kinase II subunit beta	Regulatory subunit of casein kinase II/CK2.
DYRK1A	Dual specificity tyrosine-phosphorylation-regulated kinase 1A	Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities.
GLI2	Zinc finger protein GLI2	Functions as a transcription regulator in the hedgehog (Hh) pathway.
MCM7	DNA replication licensing factor MCM7	Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for ‘once per cell cycle’ DNA replication initiation and elongation in eukaryotic cells.
PTK2	Focal adhesion kinase 1	Non-receptor protein-tyrosine kinase that plays an essential role in regulating cell migration, adhesion, spreading, reorganization of the actin cytoskeleton, formation and disassembly of focal adhesions and cell protrusions, cell cycle pr…

Protein-family classification

Druggable: 3 · Difficult: 1 · Unknown: 4 · Druggable fraction: 0.38

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
Kinase	3	10.4×	0.007
Transcription factor	1	1.0×	0.755
Other/Unknown	4	0.9×	0.755

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SBDS	Other/Unknown	no		Sdo1/SBDS, Ribosome_mat_SBDS_CS, SDO1/SBDS_central
CHRNB2	Other/Unknown	no		Nicotinic_acetylcholine_rcpt, Neurotrans-gated_channel_TM, Neur_channel
CSNK2B	Kinase	yes		Casein_kinase_II_reg-sub, Casein_kin_II_reg-sub_N, Casein_kinase_II_beta-like
DSCR4	Other/Unknown	no
DYRK1A	Kinase	yes	2.7.12.1	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
GLI2	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, GLI-like
MCM7	Other/Unknown	no		MCM_dom, AAA+_ATPase, MCM7
PTK2	Kinase	yes	2.7.10.2	FERM_domain, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom

Expression context

Cohort genes with no expression data: 0.

7 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)	8
unknown	0

Top tissues across cohort

Tissue	Cohort genes
calcaneal tendon	2
ventricular zone	2
popliteal artery	1
tibial artery	1
cervix squamous epithelium	1
tongue squamous epithelium	1
type B pancreatic cell	1
left testis	1
right testis	1
skin of leg	1
adult mammalian kidney	1
quadriceps femoris	1
vastus lateralis	1
Brodmann (1909) area 23	1
amniotic fluid	1
biceps brachii	1
germinal epithelium of ovary	1
tibia	1
embryo	1
ganglionic eminence	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SBDS	144	ubiquitous	marker	popliteal artery, tibial artery, calcaneal tendon
CHRNB2	208	broad	yes	tongue squamous epithelium, cervix squamous epithelium, type B pancreatic cell
CSNK2B	134	ubiquitous	marker	left testis, right testis, skin of leg
DSCR4	37	tissue_specific	marker	adult mammalian kidney, vastus lateralis, quadriceps femoris
DYRK1A	294	ubiquitous	marker	amniotic fluid, biceps brachii, Brodmann (1909) area 23
GLI2	211	ubiquitous	marker	tibia, germinal epithelium of ovary, ventricular zone
MCM7	143	ubiquitous	marker	embryo, ganglionic eminence, ventricular zone
PTK2	295	ubiquitous	marker	corpus callosum, colonic epithelium, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MCM7	5,413
DYRK1A	4,909
PTK2	4,342
GLI2	3,112
SBDS	2,110
CHRNB2	1,547
CSNK2B	1,486
DSCR4	23

Structural data

PDB: 6 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DYRK1A	Q13627	91
PTK2	Q05397	40
MCM7	P33993	28
CHRNB2	P17787	15
CSNK2B	P67870	10
SBDS	Q9Y3A5	6

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DSCR4	P56555	46.84
GLI2	P10070	42.68

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 65. Enrichment computed across 8 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
RUNX2 regulates chondrocyte maturation	1	380.7×	0.029	GLI2
Phosphorylation and nuclear translocation of BMAL1 (ARNTL) and CLOCK	1	380.7×	0.029	CSNK2B
GLI proteins bind promoters of Hh responsive genes to promote transcription	1	271.9×	0.029	GLI2
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors	1	271.9×	0.029	CHRNB2
WNT mediated activation of DVL	1	237.9×	0.029	CSNK2B
Highly calcium permeable nicotinic acetylcholine receptors	1	211.5×	0.029	CHRNB2
DNA strand elongation	1	190.3×	0.029	MCM7
Condensation of Prometaphase Chromosomes	1	173.0×	0.029	CSNK2B
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	1	173.0×	0.029	CHRNB2
Receptor Mediated Mitophagy	1	173.0×	0.029	CSNK2B
Presynaptic nicotinic acetylcholine receptors	1	158.6×	0.029	CHRNB2
Unwinding of DNA	1	146.4×	0.029	MCM7
Acetylcholine binding and downstream events	1	135.9×	0.029	CHRNB2
Postsynaptic nicotinic acetylcholine receptors	1	135.9×	0.029	CHRNB2
Phosphorylation and nuclear translocation of the CRY:PER:kinase complex	1	135.9×	0.029	CSNK2B
p130Cas linkage to MAPK signaling for integrins	1	126.9×	0.029	PTK2
Maturation of hRSV A proteins	1	126.9×	0.029	CSNK2B
GRB2:SOS provides linkage to MAPK signaling for Integrins	1	119.0×	0.029	PTK2
DCC mediated attractive signaling	1	119.0×	0.029	PTK2
Signal regulatory protein family interactions	1	112.0×	0.029	PTK2
Signal transduction by L1	1	86.5×	0.035	CSNK2B
Apoptotic cleavage of cellular proteins	1	79.3×	0.035	PTK2
G0 and Early G1	1	73.2×	0.035	DYRK1A
Estrogen-dependent nuclear events downstream of ESR-membrane signaling	1	73.2×	0.035	PTK2
Integrin signaling	1	70.5×	0.035	PTK2
Synthesis of PC	1	68.0×	0.035	CSNK2B
MET activates PTK2 signaling	1	63.4×	0.035	PTK2
Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells	1	59.5×	0.035	PTK2
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	1	56.0×	0.035	CSNK2B
Activation of the pre-replicative complex	1	54.4×	0.035	MCM7

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
lateral geniculate nucleus development	1	2407.4×	0.015	CHRNB2
negative regulation of heterochromatin formation	1	1203.7×	0.015	DYRK1A
regulation of circadian sleep/wake cycle, REM sleep	1	1203.7×	0.015	CHRNB2
regulation of amyloid-beta formation	1	1203.7×	0.015	DYRK1A
ventral midline development	1	802.5×	0.015	GLI2
floor plate formation	1	802.5×	0.015	GLI2
vestibulocochlear nerve development	1	802.5×	0.015	CHRNB2
spinal cord ventral commissure morphogenesis	1	802.5×	0.015	GLI2
netrin-activated signaling pathway	1	802.5×	0.015	PTK2
symbiont-mediated disruption of host cell PML body	1	802.5×	0.015	CSNK2B
regulation of neurofibrillary tangle assembly	1	802.5×	0.015	DYRK1A
hindgut morphogenesis	1	601.9×	0.015	GLI2
regulation of synaptic transmission, dopaminergic	1	601.9×	0.015	CHRNB2
tube development	1	601.9×	0.015	GLI2
negative regulation of action potential	1	601.9×	0.015	CHRNB2
synaptic transmission involved in micturition	1	601.9×	0.015	CHRNB2
negative regulation of viral life cycle	1	601.9×	0.015	CSNK2B
optic nerve morphogenesis	1	481.5×	0.015	CHRNB2
vascular endothelial cell response to oscillatory fluid shear stress	1	481.5×	0.015	PTK2
positive regulation of macrophage proliferation	1	481.5×	0.015	PTK2
regulation of substrate adhesion-dependent cell spreading	1	481.5×	0.015	PTK2
regulation of epithelial cell migration	1	401.2×	0.015	PTK2
cerebellar cortex morphogenesis	1	401.2×	0.015	GLI2
positive regulation of activin receptor signaling pathway	1	401.2×	0.015	CSNK2B
regulation of phosphorylation	1	401.2×	0.015	MCM7
detection of muscle stretch	1	343.9×	0.015	PTK2
cytosolic ribosome assembly	1	343.9×	0.015	SBDS
signal complex assembly	1	300.9×	0.015	PTK2
regulation of endothelial cell migration	1	300.9×	0.015	PTK2
spinal cord dorsal/ventral patterning	1	300.9×	0.015	GLI2

Therapeutics

Drug target analysis

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

Druggability breadth: 7 of 8 evidence-associated genes (88%) 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
CHRNB2	VARENICLINE
CSNK2B	PALBOCICLIB
DYRK1A	NIRAPARIB
PTK2	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PTK2	56	4
DYRK1A	48	4
CHRNB2	26	4
CSNK2B	14	4
SBDS	0	0
DSCR4	0	0
GLI2	0	0
MCM7	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
VARENICLINE	4	CHRNB2
MECAMYLAMINE	4	CHRNB2
GRANISETRON	4	CHRNB2
NICOTINE	4	CHRNB2
ONDANSETRON	4	CHRNB2
TROPISETRON	4	CHRNB2
ACETYLCHOLINE	4	CHRNB2
BUPROPION	4	CHRNB2
CARBAMOYLCHOLINE	4	CHRNB2
PALBOCICLIB	4	CSNK2B, DYRK1A
MITOXANTRONE	4	CSNK2B
NIRAPARIB	4	DYRK1A
RUCAPARIB	4	DYRK1A
AFATINIB	4	DYRK1A
RUXOLITINIB	4	DYRK1A
BELUMOSUDIL	4	DYRK1A
AFATINIB DIMALEATE	4	DYRK1A
ABEMACICLIB	4	DYRK1A
TOVORAFENIB	4	DYRK1A
SUNITINIB	4	DYRK1A, PTK2
MIDOSTAURIN	4	DYRK1A
FEDRATINIB	4	PTK2
NERATINIB	4	PTK2
ENTRECTINIB	4	PTK2
FOSTAMATINIB	4	PTK2
CERITINIB	4	PTK2
BOSUTINIB	4	PTK2
LORLATINIB	4	PTK2
BRIGATINIB	4	PTK2
REPOTRECTINIB	4	PTK2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
PTK2	990	Binding:989, Functional:1
DYRK1A	866	Binding:855, Functional:7, ADMET:4
CHRNB2	696	Binding:567, Functional:127, Toxicity:1, ADMET:1
CSNK2B	421	Binding:419, Functional:2
MCM7	9	Binding:9
GLI2	6	Binding:6
SBDS	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
DYRK1A	2.7.12.1	dual-specificity kinase
PTK2	2.7.10.2	non-specific protein-tyrosine kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
CHRNB2	696
CSNK2B	421
DYRK1A	866
PTK2	990

Pharmacogenomics

Cohort genes with a PharmGKB record: 8; 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)
VARENICLINE	4	CHRNB2
MECAMYLAMINE	4	CHRNB2
GRANISETRON	4	CHRNB2
NICOTINE	4	CHRNB2
ONDANSETRON	4	CHRNB2
TROPISETRON	4	CHRNB2
ACETYLCHOLINE	4	CHRNB2
BUPROPION	4	CHRNB2
CARBAMOYLCHOLINE	4	CHRNB2
PALBOCICLIB	4	CSNK2B, DYRK1A
MITOXANTRONE	4	CSNK2B
NIRAPARIB	4	DYRK1A
RUCAPARIB	4	DYRK1A
AFATINIB	4	DYRK1A
RUXOLITINIB	4	DYRK1A
BELUMOSUDIL	4	DYRK1A
AFATINIB DIMALEATE	4	DYRK1A
ABEMACICLIB	4	DYRK1A
TOVORAFENIB	4	DYRK1A
SUNITINIB	4	DYRK1A, PTK2
MIDOSTAURIN	4	DYRK1A
FEDRATINIB	4	PTK2
NERATINIB	4	PTK2
ENTRECTINIB	4	PTK2
FOSTAMATINIB	4	PTK2
CERITINIB	4	PTK2
BOSUTINIB	4	PTK2
LORLATINIB	4	PTK2
BRIGATINIB	4	PTK2
REPOTRECTINIB	4	PTK2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	CHRNB2, CSNK2B, DYRK1A, PTK2
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	4	SBDS, DSCR4, GLI2, MCM7

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
SBDS	1	—
DSCR4	0	—
GLI2	6	—
MCM7	9	—

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01119144	PHASE2	UNKNOWN	Polycaprolactone / Tricalcium Phosphate (PCL/TCP) v Titanium Orbital Implant : Randomised Trial
NCT04271137	Not specified	UNKNOWN	Correction of Enophthalmos and Orbital Volume Using Pre-bent Mesh Versus 3d Printed Onlay in Orbital Fracture Cases