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Atlas / Disease / Primary angle-closure glaucoma

Primary angle-closure glaucoma

disease
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Summary

Primary angle-closure glaucoma (MONDO:0001868) is a disease (an umbrella term covering 5 Mondo subtypes) with 11 cohort genes (180 GWAS associations across 13 studies) and 20 clinical trials.

At a glance

  • Umbrella term: 5 Mondo subtypes
  • Cohort genes: 11
  • GWAS associations: 180
  • Clinical trials: 20

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameprimary angle-closure glaucoma
Mondo IDMONDO:0001868
EFOEFO:1001506
DOIDDOID:1405
ICD-10-CMH40.2
NCITC34640
SNOMED CT392288006
UMLSC0017606
MedGen42225
Is cancer (heuristic)no

Data availability: 180 GWAS associations (13 studies) · 1 GenCC gene-disease record.

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › glaucoma › angle-closure glaucoma › primary angle-closure glaucoma

Related subtypes (1): neovascular glaucoma

Subtypes (5): interval angle-closure glaucoma, acute closed-angle glaucoma, residual stage angle-closure glaucoma, chronic closed-angle glaucoma, hereditary glaucoma, primary closed-angle

Genetics & variants

GWAS landscape

180 GWAS associations across 13 studies. Top hits map to 43 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs121934464e-116LAMA2?0.77
rs6349905e-83LINC02252 - GJD2?1.14
rs77448133e-76KCNQ5?0.88
rs31381421e-58RDH5?1.15
rs71888597e-53RBFOX1?1.12
rs116062501e-50LRRC4C?0.86
rs129138326e-49HERC2A0.28
rs100895175e-48TOX-DT - RNA5SP267?1.11
rs15500942e-46PRSS56?1.12
rs7241544e-29LINC00554 - NDUFA12P1?0.92
rs177138471e-25MYO5B, SNHG22?0.9
rs621682364e-25METAP2P1 - RNU7-2P?1.08
rs28085146e-25LINC00862?1.08
rs7361412e-24RGR?1.08
rs97473473e-24NPLOC4, TSPAN10?0.93
rs37538411e-23COL11A1G1.21
rs13533861e-23CFAP299 - BMP3?0.91
rs10073661e-23RASGRF1?0.93
rs54423e-23CDCA3, GNB3?0.87
rs78291279e-23ZMAT4?0.92
rs28555323e-21BMP4?1.07
rs65346426e-21ANTXR2?1.08
rs3200678e-21LMCD1-AS1?1.07
rs20177609e-21LINC02942?0.93
rs7469701e-20GLIS3G0.83
rs29691805e-20SHISA6?0.93
rs110241028e-19PLEKHA7G1.2
rs21554133e-18DLG2?0.94
rs78951085e-18KCNMA1?0.94
rs3745223777e-18PCMTD1A0.45

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90475876Verma A20247,129439,835Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST003467Khor CC20165,61212,451Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.
GCST90832109Luben RN20253,183773,214GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology.
GCST90832110Luben RN20253,183773,214GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology.
GCST90477665Verma A20242,113117,948Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480068Verma A20242,113117,948Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477664Verma A20241,06658,199Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079907Backman JD2021926387,004Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083893Backman JD2021926387,004Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90435984Zhou W2018705397,761Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding4
Tier 2: splice/UTR2
Tier 3: regulatory0
Tier 4: intronic/intergenic44

MAF distribution

BucketVariants
common (>=0.05)47
low_freq (0.01-0.05)3
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant36
intergenic_variant6
missense_variant4
5_prime_UTR_variant2
synonymous_variant1
unknown1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs121934466129498893A>G0.05intron_variantLAMA24e-116Tier 4: intronic/intergenic
rs6349901534713872T>A,C,G0.05intron_variantLINC02252 - GJD25e-83Tier 4: intronic/intergenic
rs7744813672933566C>A,G,T0.05intron_variantKCNQ53e-76Tier 4: intronic/intergenic
rs31381421255721801C>A,T0.05synonymous_variantRDH51e-58Tier 4: intronic/intergenic
rs7188859167410425T>C0.05intron_variantRBFOX17e-53Tier 4: intronic/intergenic
rs116062501140127750G>A0.05intron_variantLRRC4C1e-50Tier 4: intronic/intergenic
rs129138321528120472A>C,G0.24intron_variantHERC26e-49Tier 4: intronic/intergenic
rs10089517859266162C>A0.05intron_variantTOX-DT - RNA5SP2675e-48Tier 4: intronic/intergenic
rs15500942232520686G>A,C,T0.05missense_variantPRSS562e-46Tier 1: coding
rs72415413100021362G>A,C0.05intergenic_variantLINC00554 - NDUFA12P14e-29Tier 4: intronic/intergenic
rs177138471849849792G>A0.055_prime_UTR_variantMYO5B, SNHG221e-25Tier 2: splice/UTR
rs621682362146059911G>A,T0.05intron_variantMETAP2P1 - RNU7-2P4e-25Tier 4: intronic/intergenic
rs28085141200373953A>G0.05intron_variantLINC008626e-25Tier 4: intronic/intergenic
rs7361411084256734T>A,C0.05intron_variantRGR2e-24Tier 4: intronic/intergenic
rs97473471781639794T>A,C,G0.05intron_variantNPLOC4, TSPAN103e-24Tier 4: intronic/intergenic
rs37538411102914362G>A,C,T0.05missense_variantCOL11A11e-23Tier 1: coding
rs1353386481025926A>C,G,T0.05intergenic_variantCFAP299 - BMP31e-23Tier 4: intronic/intergenic
rs10073661579087199G>A0.05intron_variantRASGRF11e-23Tier 4: intronic/intergenic
rs5442126845700G>A0.05missense_variantCDCA3, GNB33e-23Tier 1: coding
rs7829127840868875A>G,T0.05intron_variantZMAT49e-23Tier 4: intronic/intergenic
rs28555321453953247G>A,C0.055_prime_UTR_variantBMP43e-21Tier 2: splice/UTR
rs6534642479907967T>C,G0.05intron_variantANTXR26e-21Tier 4: intronic/intergenic
rs32006738152912G>A,C0.05intron_variantLMCD1-AS18e-21Tier 4: intronic/intergenic
rs20177601207282076T>G0.05intron_variantLINC029429e-21Tier 4: intronic/intergenic
rs74697094217822A>G,T0.26intron_variantGLIS31e-20Tier 4: intronic/intergenic
rs29691801711504584G>A,C0.05intron_variantSHISA65e-20Tier 4: intronic/intergenic
rs110241021116987058T>A,C0.05intron_variantPLEKHA78e-19Tier 4: intronic/intergenic
rs21554131184923746C>A,G0.05intron_variantDLG23e-18Tier 4: intronic/intergenic
rs78951081077301700G>A,T0.05intron_variantKCNMA15e-18Tier 4: intronic/intergenic
rs374522377851880038A>T0.015intron_variantPCMTD17e-18Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 1

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

GeneHGNCEvidence routes
GLIS3GLIS3GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
SPATA13ModerateAutosomal dominantprimary angle-closure glaucoma

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
CHATOrphanet:98914Presynaptic congenital myasthenic syndromes
COL11A1Orphanet:2021Fibrochondrogenesis
COL11A1Orphanet:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
COL11A1Orphanet:560Marshall syndrome
COL11A1Orphanet:90635Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
COL11A1Orphanet:90654Stickler syndrome type 2
GLIS3Orphanet:79118Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
DPM2Orphanet:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy

Cohort genes → proteins

11 cohort genes, 11 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only10
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SPATA13HGNC:23222ENSG00000182957Q96N96Spermatogenesis-associated protein 13gencc
FERMT2HGNC:15767ENSG00000073712Q96AC1Fermitin family homolog 2gwas
EPDR1HGNC:17572ENSG00000086289Q9UM22Mammalian ependymin-related protein 1gwas
ST18HGNC:18695ENSG00000147488O60284Suppression of tumorigenicity 18 proteingwas
CHATHGNC:1912ENSG00000070748P28329Choline O-acetyltransferasegwas
COL11A1HGNC:2186ENSG00000060718P12107Collagen alpha-1(XI) chaingwas
PLEKHA7HGNC:27049ENSG00000166689Q6IQ23Pleckstrin homology domain-containing family A member 7gwas
GLIS3HGNC:28510ENSG00000107249Q8NEA6Zinc finger protein GLIS3gwas
DPM2HGNC:3006ENSG00000136908O94777Dolichol phosphate-mannose biosynthesis regulatory proteingwas
PCMTD1HGNC:30483ENSG00000168300Q96MG8Protein-L-isoaspartate O-methyltransferase domain-containing protein 1gwas
EEIG1HGNC:31419ENSG00000167106Q5T9C2Early estrogen-induced gene 1 proteingwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SPATA13Spermatogenesis-associated protein 13Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RAC1 and CDC42 GTPases.
FERMT2Fermitin family homolog 2Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself.
EPDR1Mammalian ependymin-related protein 1Binds anionic lipids and gangliosides at acidic pH.
ST18Suppression of tumorigenicity 18 proteinRepressor 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.
CHATCholine O-acetyltransferaseCatalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
COL11A1Collagen alpha-1(XI) chainMay play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
PLEKHA7Pleckstrin homology domain-containing family A member 7Required for zonula adherens biogenesis and maintenance.
GLIS3Zinc finger protein GLIS3Acts both as a repressor and an activator of transcription.
DPM2Dolichol phosphate-mannose biosynthesis regulatory proteinRegulates the biosynthesis of dolichol phosphate-mannose.
PCMTD1Protein-L-isoaspartate O-methyltransferase domain-containing protein 1Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
EEIG1Early estrogen-induced gene 1 proteinKey component of TNFSF11/RANKL- and TNF-induced osteoclastogenesis pathways, thereby mediates bone resorption in pathological bone loss conditions.

Protein-family classification

Druggable: 1 · Difficult: 5 · Unknown: 5 · Druggable fraction: 0.09

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.

FamilyGenesFoldFDR
Scaffold/PPI34.7×0.090
Transcription factor21.5×0.784
Enzyme (other)11.1×0.822
Other/Unknown50.8×0.840

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SPATA13Scaffold/PPInoDH_dom, SH3_domain, PH_domain
FERMT2Scaffold/PPInoPH_domain, PH-like_dom_sf, FERM_central
EPDR1Other/UnknownnoEpendymin, Ependymin_CS
ST18Transcription factornoZnf_C2H2C, Myelin_TF, Znf_C2H2C_sf
CHATEnzyme (other)yes2.3.1.6Carn_acyl_trans, CAT-like_dom_sf, Cho/carn_acyl_trans_1_2
COL11A1Other/UnknownnoFib_collagen_C, Laminin_G, Collagen
PLEKHA7Scaffold/PPInoWW_dom, PH_domain, PH-like_dom_sf
GLIS3Transcription factornoZnf_C2H2_type, Znf_C2H2_sf, GLI-like
DPM2Other/UnknownnoDPM2
PCMTD1Other/UnknownnoPCMT, SAM-dependent_MTases_sf
EEIG1Other/UnknownnoNT-C2, EEIG1/2-like

Expression context

Cohort genes with no expression data: 0.

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

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)11
unknown0

Top tissues across cohort

TissueCohort genes
pancreatic ductal cell3
epithelial cell of pancreas2
sural nerve2
decidua2
C1 segment of cervical spinal cord2
cauda epididymis1
metanephric glomerulus1
cerebellar vermis1
pons1
corpus callosum1
spinal cord1
male germ line stem cell (sensu Vertebrata) in testis1
primordial germ cell in gonad1
putamen1
cartilage tissue1
periodontal ligament1
tibia1
lower esophagus mucosa1
buccal mucosa cell1
body of pancreas1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SPATA13250markerepithelial cell of pancreas, pancreatic ductal cell, sural nerve
FERMT2290ubiquitousmarkerdecidua, cauda epididymis, metanephric glomerulus
EPDR1248ubiquitousmarkerpons, cerebellar vermis, decidua
ST18192broadmarkercorpus callosum, C1 segment of cervical spinal cord, spinal cord
CHAT68tissue_specificmarkerprimordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, putamen
COL11A1209broadmarkertibia, cartilage tissue, periodontal ligament
PLEKHA7214broadmarkersural nerve, pancreatic ductal cell, lower esophagus mucosa
GLIS3213ubiquitousmarkerbuccal mucosa cell, epithelial cell of pancreas, pancreatic ductal cell
DPM2265ubiquitousmarkerbody of pancreas, endometrium epithelium, left lobe of thyroid gland
PCMTD1256ubiquitousmarkeroviduct epithelium, tendon of biceps brachii, cardiac muscle of right atrium
EEIG1279ubiquitousmarkergall bladder, C1 segment of cervical spinal cord, islet of Langerhans

Protein interactions among cohort

Intra-cohort edges: 23.

Hub genes (top 10 by interactor count)

SymbolInteractor count
COL11A12,433
PLEKHA72,300
FERMT21,747
CHAT1,743
GLIS31,717
PCMTD11,121
EPDR11,010
DPM21,010
EEIG1885
SPATA13831

Intra-cohort edges

ABSources
COL11A1EEIG1string_interaction
COL11A1PCMTD1string_interaction
COL11A1PLEKHA7string_interaction
COL11A1ST18string_interaction
DPM2EEIG1string_interaction
DPM2EPDR1string_interaction
DPM2PCMTD1string_interaction
DPM2ST18string_interaction
EEIG1EPDR1string_interaction
EEIG1FERMT2string_interaction
EEIG1GLIS3string_interaction
EEIG1PCMTD1string_interaction
EEIG1PLEKHA7string_interaction
EEIG1ST18string_interaction
EPDR1FERMT2string_interaction
EPDR1GLIS3string_interaction
EPDR1PCMTD1string_interaction
EPDR1PLEKHA7string_interaction
EPDR1ST18string_interaction
FERMT2PCMTD1string_interaction
PCMTD1PLEKHA7string_interaction
PCMTD1ST18string_interaction
PLEKHA7ST18string_interaction

Structural data

PDB: 6 · AlphaFold-only: 5 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
CHATP283298
FERMT2Q96AC16
EPDR1Q9UM223
PLEKHA7Q6IQ233
PCMTD1Q96MG82
ST18O602841

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
DPM2O9477791.96
SPATA13Q96N9672.49
EEIG1Q5T9C269.30
COL11A1P1210753.06
GLIS3Q8NEA649.95

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 23. Enrichment computed across 11 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Synthesis of dolichyl-phosphate mannose1761.3×0.008DPM2
Defective DPM1 causes DPM1-CDG1761.3×0.008DPM2
Defective DPM3 causes DPM3-CDG1761.3×0.008DPM2
Defective DPM2 causes DPM2-CDG1761.3×0.008DPM2
RAC1 GTPase cycle224.4×0.012FERMT2, SPATA13
Acetylcholine Neurotransmitter Release Cycle1134.3×0.023CHAT
Cell-extracellular matrix interactions1134.3×0.023FERMT2
Synthesis of glycosylphosphatidylinositol (GPI)1126.9×0.023DPM2
Synthesis of PC181.6×0.030CHAT
MET activates PTK2 signaling176.1×0.030COL11A1
Collagen chain trimerization151.9×0.040COL11A1
Developmental Lineage of Pancreatic Ductal Cells145.7×0.041COL11A1
Maturation of DENV proteins142.3×0.041DPM2
Assembly of collagen fibrils and other multimeric structures140.1×0.041COL11A1
Collagen degradation135.1×0.042COL11A1
Collagen biosynthesis and modifying enzymes134.1×0.042COL11A1
Non-integrin membrane-ECM interactions130.9×0.043COL11A1
RAC3 GTPase cycle123.8×0.053FERMT2
CDC42 GTPase cycle114.5×0.081SPATA13
RHO GTPase cycle112.0×0.093SPATA13
Signaling by Rho GTPases16.8×0.147SPATA13
Signaling by Rho GTPases, Miro GTPases and RHOBTB316.7×0.147SPATA13
Signal Transduction12.0×0.404SPATA13

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 11 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
myofibroblast contraction1766.0×0.026EPDR1
acetylcholine biosynthetic process1510.7×0.026CHAT
zonula adherens maintenance1510.7×0.026PLEKHA7
dolichol phosphate mannose biosynthetic process1510.7×0.026DPM2
adherens junction maintenance1383.0×0.026FERMT2
tendon development1383.0×0.026COL11A1
cell-matrix adhesion229.8×0.026FERMT2, EPDR1
positive regulation of wound healing, spreading of epidermal cells1306.4×0.029FERMT2
positive regulation of mesenchymal stem cell proliferation1191.5×0.029FERMT2
proteoglycan metabolic process1170.2×0.029COL11A1
positive regulation of integrin activation1170.2×0.029FERMT2
dolichyl monophosphate biosynthetic process1170.2×0.029DPM2
pore complex assembly1170.2×0.029PLEKHA7
protein localization to cell junction1170.2×0.029FERMT2
integrin activation1127.7×0.036FERMT2
epithelial cell-cell adhesion1109.4×0.038PLEKHA7
negative regulation of vascular permeability1102.1×0.038FERMT2
interleukin-6-mediated signaling pathway1102.1×0.038ST18
chondrocyte development185.1×0.041COL11A1
detection of mechanical stimulus involved in sensory perception of sound185.1×0.041COL11A1
dolichol-linked oligosaccharide biosynthetic process176.6×0.041DPM2
phosphatidylcholine biosynthetic process173.0×0.041CHAT
interleukin-1-mediated signaling pathway173.0×0.041ST18
cartilage condensation169.6×0.041COL11A1
ventricular cardiac muscle tissue morphogenesis163.8×0.041COL11A1
filopodium assembly158.9×0.041SPATA13
positive regulation of focal adhesion assembly158.9×0.041FERMT2
regulation of cell morphogenesis156.7×0.041FERMT2
neuromuscular synaptic transmission154.7×0.041CHAT
protein localization to membrane154.7×0.041FERMT2

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
Glatiramer AcetatePhase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 10

Druggability breadth: 5 of 11 evidence-associated genes (45%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
CHAT13
SPATA1300
FERMT200
EPDR100
ST1800
COL11A100
PLEKHA700
GLIS300
DPM200
PCMTD100

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
COENZYME_A3CHAT

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

SymbolAssaysType breakdown
CHAT7Binding:7
FERMT25Binding:5
EPDR11Binding:1
PLEKHA71Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
CHAT2.3.1.6choline O-acetyltransferase

Pharmacogenomics

Cohort genes with a PharmGKB record: 11; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

1 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.

CompoundMax phaseCohort target (bioactivity)
COENZYME_A3CHAT

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved1CHAT
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug10SPATA13, FERMT2, EPDR1, ST18, COL11A1, PLEKHA7, GLIS3, DPM2, PCMTD1, EEIG1

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
SPATA130—
FERMT25—
EPDR11—
ST180—
COL11A10—
PLEKHA71—
GLIS30—
DPM20—
PCMTD10—
EEIG10—

Clinical trials & evidence

Clinical trials

Clinical trials: 20.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified20

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05163951Not specifiedRECRUITINGTrabeculectomy Versus Peripheral Iridectomy Plus Goniotomy in Advanced PACG
NCT06952153Not specifiedRECRUITINGComparison of Phaco Surgery With Goniosynechialysis Versus Trabeculectomy in Glaucoma Treatment
NCT07517302Not specifiedRECRUITINGKahook Dual Blade Goniotomy in Chronic Primary Angle-Closure Glaucoma
NCT07523139Not specifiedRECRUITINGVitreous Zonule in Primary Angle-Closure Glaucoma
NCT07539675Not specifiedRECRUITINGThe Multi-Omics Analysis of Lens Zonule Relaxation in The PACG Pathogenesis
NCT07549438Not specifiedNOT_YET_RECRUITINGPredicting the Risk of Partial Ciliary Block After Cataract and Goniosynechialysis Surgery in Primary Angle-Closure Disease
NCT01266343Not specifiedCOMPLETEDComparison of Anterior Chamber Paracentesis and Conventional Mannitol Infusion in Patients With Primary Acute Angle-closure Glaucoma
NCT01301378Not specifiedTERMINATEDPatch Graft Material Safety and Effectiveness in Covering Glaucoma Drainage Device Tube
NCT02279472Not specifiedUNKNOWNOptical Coherence Tomography Quantitative Analysis of Changes in Anterior Chamber After Laser Peripheral Lridotomy
NCT03647033Not specifiedCOMPLETEDPhacoemulsification Versus Phacoemulsification With Micro-bypass Stent
NCT04254458Not specifiedCOMPLETEDCorneal Densitometry in Acute Primary Angle Closure Glaucoma
NCT04609345Not specifiedUNKNOWNPrevalence of Ocular Surface Disease in Malaysian Glaucoma Patients
NCT04622605Not specifiedCOMPLETEDHydrus Microstent and Lens Extraction for the Treatment of Primary Angle-Closure Glaucoma
NCT04736264Not specifiedUNKNOWNMalay Glaucoma Eye Study II Navigation, Mobility and Reading Ability in Primary Glaucoma
NCT04972435Not specifiedCOMPLETEDEffect of Multifocal Intraocular Lens on Contrast Sensitivity in Primary Angle-Closure Patients
NCT05052242Not specifiedCOMPLETEDEvaluation of Ocular Biometry in PACD With Two Swept Source Optical Coherence Tomography Devices
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Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

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This page pulls from 71 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot