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Atlas / Disease / Rhegmatogenous retinal detachment

Rhegmatogenous retinal detachment

disease
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Summary

Rhegmatogenous retinal detachment (MONDO:0005464) is a disease with 19 cohort genes (5 GWAS associations across 2 studies) and 42 clinical trials. Top therapeutic interventions include netarsudil, ursodiol, and atropine.

At a glance

  • Cohort genes: 19
  • GWAS associations: 5
  • Clinical trials: 42

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namerhegmatogenous retinal detachment
Mondo IDMONDO:0005464
EFOEFO:0005240
ICD-10-CMH33.0
NCITC118755
SNOMED CT19620000
UMLSC0271055
MedGen489829
Is cancer (heuristic)no

Data availability: 5 GWAS associations (2 studies).

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal detachment › rhegmatogenous retinal detachment

Related subtypes (1): retinal perforation

Subtypes (1): autosomal dominant rhegmatogenous retinal detachment

Genetics & variants

GWAS landscape

5 GWAS associations across 2 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs2677381e-07CERS2A1.23
rs129601192e-06SS18G1.26
rs20450843e-06PYCR3 - GFUSG1.16
rs9559435e-06LDB2A1.41
rs71183636e-06FAT3A1.19

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST009961Boutin TS20191,380360,233Insights into the genetic basis of retinal detachment.
GCST001966Kirin M20138671,953Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding1
Tier 2: splice/UTR0
Tier 3: regulatory1
Tier 4: intronic/intergenic3

MAF distribution

BucketVariants
common (>=0.05)5
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant3
missense_variant1
regulatory_region_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs2677381150968149T>A,C,G0.275missense_variantCERS21e-07Tier 1: coding
rs129601191826034739A>G0.075intron_variantSS182e-06Tier 4: intronic/intergenic
rs20450848143611669C>A,G,T0.425regulatory_region_variantPYCR3 - GFUS3e-06Tier 3: regulatory
rs955943416512785C>A,G,T0.067intron_variantLDB25e-06Tier 4: intronic/intergenic
rs71183631192890442A>C,G,T0.392intron_variantFAT36e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
SS18Orphanet:3273Synovial sarcoma
TAF4BOrphanet:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
PRUNE1Orphanet:544469PRUNE1-related neurological syndrome
ADAMTSL4Orphanet:1885Isolated ectopia lentis
CTSKOrphanet:763Pycnodysostosis

Cohort genes → proteins

19 cohort genes, 19 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only19

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SS18HGNC:11340ENSG00000141380Q15532Protein SSXTgwas
TAF4BHGNC:11538ENSG00000141384Q92750Transcription initiation factor TFIID subunit 4Bgwas
GFUSHGNC:12390ENSG00000104522Q13630GDP-L-fucose synthasegwas
PRUNE1HGNC:13420ENSG00000143363Q86TP1Exopolyphosphatase PRUNE1gwas
CERS2HGNC:14076ENSG00000143418Q96G23Ceramide synthase 2gwas
ADAMTSL4HGNC:19706ENSG00000143382Q6UY14ADAMTS-like protein 4gwas
PSMA8HGNC:22985ENSG00000154611Q8TAA3Proteasome subunit alpha-type 8gwas
FAT3HGNC:23112ENSG00000165323Q8TDW7Protocadherin Fat 3gwas
GOLPH3LHGNC:24882ENSG00000143457Q9H4A5Golgi phosphoprotein 3-likegwas
HORMAD1HGNC:25245ENSG00000143452Q86X24HORMA domain-containing protein 1gwas
CTSKHGNC:2536ENSG00000143387P43235Cathepsin Kgwas
CTSSHGNC:2545ENSG00000163131P25774Cathepsin Sgwas
MINDY1HGNC:25648ENSG00000143409Q8N5J2Ubiquitin carboxyl-terminal hydrolase MINDY-1gwas
PYCR3HGNC:25846ENSG00000104524Q53H96Pyrroline-5-carboxylate reductase 3gwas
ENSAHGNC:3360ENSG00000143420O43768Alpha-endosulfinegwas
ANXA9HGNC:547ENSG00000143412O76027Annexin A9gwas
LDB2HGNC:6533ENSG00000169744O43679LIM domain-binding protein 2gwas
MCL1HGNC:6943ENSG00000143384Q07820Induced myeloid leukemia cell differentiation protein Mcl-1gwas
ARNTHGNC:700ENSG00000143437P27540Aryl hydrocarbon receptor nuclear translocatorgwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SS18Protein SSXTAppears to function synergistically with RBM14 as a transcriptional coactivator.
TAF4BTranscription initiation factor TFIID subunit 4BCell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells.
GFUSGDP-L-fucose synthaseCatalyzes the two-step NADP-dependent conversion of GDP-4-dehydro-6-deoxy-D-mannose to GDP-fucose, involving an epimerase and a reductase reaction.
PRUNE1Exopolyphosphatase PRUNE1Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate.
CERS2Ceramide synthase 2Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very-long-chain fatty acyl-CoA (chain length C22-C27).
ADAMTSL4ADAMTS-like protein 4Positive regulation of apoptosis.
PSMA8Proteasome subunit alpha-type 8Component of the spermatoproteasome, a proteasome specifically found in testis that promotes acetylation-dependent degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis.
FAT3Protocadherin Fat 3May play a role in the interactions between neurites derived from specific subsets of neurons during development.
GOLPH3LGolgi phosphoprotein 3-likePhosphatidylinositol-4-phosphate-binding protein that may antagonize the action of GOLPH3 which is required for the process of vesicle budding at the Golgi and anterograde transport to the plasma membrane.
HORMAD1HORMA domain-containing protein 1Plays a key role in meiotic progression.
CTSKCathepsin KThiol protease involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling.
CTSSCathepsin SThiol protease.
MINDY1Ubiquitin carboxyl-terminal hydrolase MINDY-1Hydrolase that can specifically remove ‘Lys-48’-linked conjugated ubiquitin from proteins.
PYCR3Pyrroline-5-carboxylate reductase 3Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate (P5C) to L-proline using NAD(P)H.
ENSAAlpha-endosulfineProtein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis.
ANXA9Annexin A9Plays a role in epidermal differentiation.
LDB2LIM domain-binding protein 2Transcription cofactor.
MCL1Induced myeloid leukemia cell differentiation protein Mcl-1Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation.
ARNTAryl hydrocarbon receptor nuclear translocatorRequired for activity of the AHR.

Protein-family classification

Druggable: 2 · Difficult: 2 · Unknown: 15 · Druggable fraction: 0.11

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
Other/Unknown151.4×0.098
Protease23.9×0.141
Transcription factor20.9×0.689

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SS18Other/UnknownnoSS18_N
TAF4BOther/UnknownnoTAFH_NHR1, TAF4_C, Histone-fold
GFUSOther/UnknownnoEpimerase_deHydtase, GDP_fucose/colitose_synth, NAD(P)-bd_dom_sf
PRUNE1Other/UnknownnoDDH_dom, DHHA2, DHHA2_dom_sf
CERS2Transcription factorno2.3.1.24HD, TLC-dom, Homeodomain-like_sf
ADAMTSL4Other/UnknownnoTSP1_rpt, ADAMTS_spacer1, PLAC
PSMA8Other/UnknownnoProteasome_asu_N, Proteasome_sua/b, Proteasome_alpha-type
FAT3Other/UnknownnoEGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G
GOLPH3LOther/UnknownnoGPP34-like, GPP34-like_sf
HORMAD1Other/UnknownnoHORMA_dom, HORMA_dom_sf, HORMA_MeioticProgression
CTSKProteaseyes3.4.22.38Pept_cys_AS, Peptidase_C1A_C, Peptidase_C1A
CTSSProteaseyes3.4.22.27Pept_cys_AS, Peptidase_C1A_C, Peptidase_C1A
MINDY1Other/UnknownnoMINDY, MINDY_domain
PYCR3Other/UnknownnoPyrroline-COOH_reductase, 6-PGluconate_DH-like_C_sf, P5C_Rdtase_cat_N
ENSAOther/UnknownnoEndosulphine
ANXA9Other/UnknownnoAnnexin, ANX9, Annexin_repeat_CS
LDB2Other/UnknownnoLIM-bd/SEUSS, LID
MCL1Other/UnknownnoBcl2-like, Apop_reg_Mc1, Bcl2_BH1_motif_CS
ARNTTranscription factornoPAS, Nuc_translocat, PAC

Expression context

Cohort genes with no expression data: 0.

17 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)19
unknown0

Top tissues across cohort

TissueCohort genes
right adrenal gland2
right adrenal gland cortex2
buccal mucosa cell2
secondary oocyte2
apex of heart2
cortical plate2
lower esophagus mucosa2
left testis2
right testis2
Brodmann (1909) area 232
body of pancreas2
adrenal tissue1
oocyte1
body of stomach1
esophagus mucosa1
skin of abdomen1
islet of Langerhans1
left adrenal gland1
decidua1
mucosa of stomach1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SS18291ubiquitousmarkeradrenal tissue, right adrenal gland cortex, right adrenal gland
TAF4B243ubiquitousmarkersecondary oocyte, buccal mucosa cell, oocyte
GFUS134ubiquitousmarkerbody of stomach, skin of abdomen, esophagus mucosa
PRUNE1228ubiquitousmarkerislet of Langerhans, apex of heart, cortical plate
CERS2290ubiquitousmarkerright adrenal gland cortex, right adrenal gland, left adrenal gland
ADAMTSL4216ubiquitousmarkerdecidua, mucosa of stomach, lower esophagus mucosa
PSMA846tissue_specificyesright testis, sperm, left testis
FAT3194broadmarkerbuccal mucosa cell, Brodmann (1909) area 23, middle temporal gyrus
GOLPH3L287ubiquitousmarkercorpus epididymis, secondary oocyte, caput epididymis
HORMAD1146tissue_specificmarkeradult organism, right testis, left testis
CTSK254ubiquitousmarkerperiodontal ligament, stromal cell of endometrium, skin of hip
CTSS260ubiquitousmarkermonocyte, mononuclear cell, leukocyte
MINDY1259ubiquitousmarkerbody of pancreas, apex of heart, right lobe of thyroid gland
PYCR3138ubiquitousyesprefrontal cortex, anterior cingulate cortex, frontal cortex
ENSA303ubiquitousmarkercervix squamous epithelium, esophagus squamous epithelium, tongue squamous epithelium
ANXA9208broadmarkerlower esophagus mucosa, body of pancreas, endometrium epithelium
LDB2270ubiquitousmarkerright lung, cortical plate, Brodmann (1909) area 23
MCL1304ubiquitousmarkervisceral pleura, parietal pleura, pleura
ARNT281ubiquitousmarkercolonic epithelium, calcaneal tendon, sural nerve

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CTSS4,897
MCL14,442
GFUS3,199
ARNT2,894
CTSK2,790
PSMA81,866
LDB21,706
FAT31,660
CERS21,415
PYCR31,342

Intra-cohort edges

ABSources
ADAMTSL4MCL1string_interaction
GOLPH3LHORMAD1string_interaction

Structural data

PDB: 8 · AlphaFold-only: 11 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
MCL1Q07820144
CTSKP4323570
CTSSP2577462
ARNTP2754044
MINDY1Q8N5J28
GFUSQ136305
SS18Q155321
HORMAD1Q86X241

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
PYCR3Q53H9694.84
ANXA9O7602790.51
CERS2Q96G2387.31
PRUNE1Q86TP185.61
GOLPH3LQ9H4A584.75
PSMA8Q8TAA384.04
LDB2O4367973.80
ENSAO4376867.74
ADAMTSL4Q6UY1465.18
TAF4BQ9275056.15
FAT3Q8TDW7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 86. Enrichment computed across 19 evidence-associated genes (12 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 12 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Trafficking and processing of endosomal TLR2135.9×0.008CTSK, CTSS
GDP-fucose biosynthesis1158.6×0.085GFUS
Aryl hydrocarbon receptor signalling1158.6×0.085ARNT
MASTL Facilitates Mitotic Progression195.2×0.085ENSA
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes195.2×0.085CTSK
Endosomal/Vacuolar pathway186.5×0.085CTSS
Regulation of gene expression by Hypoxia-inducible Factor179.3×0.085ARNT
Cellular response to hypoxia173.2×0.085ARNT
Glutamate and glutamine metabolism168.0×0.085PYCR3
Toll-like Receptor Cascades220.7×0.085CTSK, CTSS
Degradation of the extracellular matrix219.6×0.085CTSK, CTSS
MHC class II antigen presentation214.9×0.085CTSK, CTSS
Extracellular matrix organization210.5×0.085CTSK, CTSS
Gene expression (Transcription)46.0×0.085SS18, TAF4B, CTSK, ARNT
RNA Polymerase II Transcription35.6×0.085TAF4B, CTSK, ARNT
Cytochrome P450 - arranged by substrate type159.5×0.089ARNT
Formation of the non-canonical BAF (ncBAF) complex156.0×0.089SS18
Formation of the canonical BAF (cBAF) complex152.9×0.089SS18
Formation of the embryonic stem cell BAF (esBAF) complex150.1×0.089SS18
Transcriptional Regulation by NPAS4147.6×0.089ARNT
Xenobiotics141.4×0.089ARNT
NPAS4 regulates expression of target genes141.4×0.089ARNT
SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)141.4×0.089CTSS
Collagen formation138.1×0.089CTSS
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)138.1×0.089SS18
Endogenous sterols132.8×0.099ARNT
Regulation of endogenous retroelements130.7×0.102SS18
Antigen processing-Cross presentation126.4×0.104CTSS
Activation of Matrix Metalloproteinases125.7×0.104CTSK
Defective B3GALTL causes PpS125.7×0.104ADAMTSL4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 19 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
pigment cell development1887.0×0.024ADAMTSL4
obsolete negative regulation of Schwann cell proliferation involved in axon regeneration1887.0×0.024CERS2
positive regulation of cellular component biogenesis1443.5×0.024LDB2
regulation of meiosis I1443.5×0.024PSMA8
regulation of antigen processing and presentation1295.6×0.024CTSS
basement membrane disassembly1295.6×0.024CTSS
‘de novo’ GDP-L-fucose biosynthetic process1295.6×0.024GFUS
positive regulation of hormone biosynthetic process1295.6×0.024ARNT
antigen processing and presentation of peptide antigen1295.6×0.024CTSS
meiotic recombination checkpoint signaling1295.6×0.024HORMAD1
regulation of homologous chromosome segregation1295.6×0.024HORMAD1
protein targeting to Golgi apparatus1295.6×0.024GOLPH3L
negative regulation of Schwann cell migration1295.6×0.024CERS2
obsolete proteolysis involved in protein catabolic process255.4×0.024CTSK, CTSS
collagen catabolic process241.2×0.024CTSK, CTSS
oogenesis240.3×0.024TAF4B, HORMAD1
extracellular matrix disassembly238.6×0.024CTSK, CTSS
meiotic cell cycle225.7×0.024PSMA8, HORMAD1
regulation of kinase activity1221.7×0.026LDB2
Golgi vesicle budding1221.7×0.026GOLPH3L
positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway1221.7×0.026MCL1
positive regulation of cation channel activity1221.7×0.026CTSS
GDP-mannose metabolic process1147.8×0.035GFUS
L-proline biosynthetic process1147.8×0.035PYCR3
meiotic DNA double-strand break formation1126.7×0.038HORMAD1
meiotic sister chromatid cohesion1126.7×0.038HORMAD1
negative regulation of cartilage development1110.9×0.039CTSK
positive regulation of endothelial cell-matrix adhesion1110.9×0.039GFUS
negative regulation of dendrite development1110.9×0.039FAT3
epithelial cell development180.6×0.044ADAMTSL4

Therapeutics

Drug target analysis

Approved (phase 4): 6 · Phase ≥3: 6 · Phased (≥1): 6 · Undrugged: 13

Druggability breadth: 8 of 19 evidence-associated genes (42%) 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.

SymbolExample approved molecule
PRUNE1DIPYRIDAMOLE
CERS2FINGOLIMOD
PSMA8BORTEZOMIB
CTSKBOCEPREVIR
CTSSBOCEPREVIR
MCL1VENETOCLAX

Top cohort targets by molecule count

SymbolMoleculesMax phase
MCL1194
CTSS124
CTSK84
PSMA854
PRUNE114
CERS214
SS1800
TAF4B00
GFUS00
ADAMTSL400

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
DIPYRIDAMOLE4PRUNE1
FINGOLIMOD4CERS2
BORTEZOMIB4PSMA8
CARFILZOMIB4PSMA8
BOCEPREVIR4CTSK, CTSS
TELAPREVIR4CTSK, CTSS
NIRMATRELVIR4CTSK, CTSS
SIMEPREVIR4CTSS
VENETOCLAX4MCL1
METHYSERGIDE MALEATE4MCL1
LIOTHYRONINE SODIUM4MCL1
OMEPRAZOLE4MCL1
BITHIONOL4MCL1
APOMORPHINE HYDROCHLORIDE4MCL1
HEXACHLOROPHENE4MCL1
COUMARIN4MCL1
PROCHLORPERAZINE4MCL1
IXAZOMIB3PSMA8
MARIZOMIB3PSMA8
ODANACATIB3CTSK, CTSS
VANIPREVIR3CTSS
EPIGALOCATECHIN GALLATE3MCL1
GOSSYPOL3MCL1
OBATOCLAX3MCL1
NAVITOCLAX3MCL1
OPROZOMIB2PSMA8
RELACATIB2CTSK, CTSS
BALICATIB2CTSK, CTSS
ATUZAGINSTAT2CTSK, CTSS
IBUZATRELVIR2CTSK, CTSS

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

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

SymbolAssaysType breakdown
MCL1560Binding:554, Functional:6
CTSK376Binding:365, ADMET:5, Toxicity:5, Functional:1
CTSS328Binding:313, ADMET:9, Functional:5, Toxicity:1
PSMA8168Binding:159, ADMET:6, Functional:3
ARNT16Binding:16
CERS24Binding:4
PRUNE13Binding:3
ANXA91Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
CERS22.3.1.24, 2.3.1.297sphingosine N-acyltransferase, very-long-chain ceramide synthase
CTSK3.4.22.38cathepsin K
CTSS3.4.22.27cathepsin S

Cohort genes with high screening signal

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

SymbolChEMBL assays
PSMA8168
CTSK376
CTSS328
MCL1560

Pharmacogenomics

Cohort genes with a PharmGKB record: 19; 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.

CompoundMax phaseCohort target (bioactivity)
DIPYRIDAMOLE4PRUNE1
FINGOLIMOD4CERS2
BORTEZOMIB4PSMA8
CARFILZOMIB4PSMA8
BOCEPREVIR4CTSK, CTSS
TELAPREVIR4CTSK, CTSS
NIRMATRELVIR4CTSK, CTSS
SIMEPREVIR4CTSS
VENETOCLAX4MCL1
METHYSERGIDE MALEATE4MCL1
LIOTHYRONINE SODIUM4MCL1
OMEPRAZOLE4MCL1
BITHIONOL4MCL1
APOMORPHINE HYDROCHLORIDE4MCL1
HEXACHLOROPHENE4MCL1
COUMARIN4MCL1
PROCHLORPERAZINE4MCL1
IXAZOMIB3PSMA8
MARIZOMIB3PSMA8
ODANACATIB3CTSK, CTSS
VANIPREVIR3CTSS
EPIGALOCATECHIN GALLATE3MCL1
GOSSYPOL3MCL1
OBATOCLAX3MCL1
NAVITOCLAX3MCL1
OPROZOMIB2PSMA8
RELACATIB2CTSK, CTSS
BALICATIB2CTSK, CTSS
ATUZAGINSTAT2CTSK, CTSS
IBUZATRELVIR2CTSK, CTSS

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)6PRUNE1, CERS2, PSMA8, CTSK, CTSS, MCL1
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug13SS18, TAF4B, GFUS, ADAMTSL4, FAT3, GOLPH3L, HORMAD1, MINDY1, PYCR3, ENSA (+3 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
SS180—
TAF4B0—
GFUS0—
ADAMTSL40—
FAT30—
GOLPH3L0—
HORMAD10—
MINDY10—
PYCR30—
ENSA0—
ANXA91—
LDB20—
ARNT16—

Clinical trials & evidence

Clinical trials

Clinical trials: 42.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified29
PHASE34
PHASE42
PHASE22
PHASE12
PHASE2/PHASE31
PHASE1/PHASE21
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05331664PHASE4RECRUITINGDropless Pars Plana Vitrectomy Study
NCT07162818PHASE4COMPLETEDEffects of 0.1% Nepafenac on Vitreous Inflammatory Biomarkers in Rhegmatogenous Retinal Detachment and Proliferative Vitreoretinopathy
NCT05660447PHASE2/PHASE3ACTIVE_NOT_RECRUITINGA Multi-Center Study on the Use of Rho-Kinase Inhibitor to Reduce or Prevent PVR in RRD Eyes at High Risk for PVR
NCT06997874PHASE3RECRUITINGTreatment of Retinal Detachment in People Who Have Not Had Cataract Surgery With Vitrectomy vs Vitrectomy and Cataract Removal
NCT00370201PHASE3UNKNOWNEfficacy of Oral Colchicine in Prevention of Proliferative Vitreoretinopathy in Rhegmatogenous Retinal Detachment
NCT01068379PHASE3COMPLETEDClinical Trial of Cryotherapy Versus Postoperative Laser Photocoagulation
NCT02834559PHASE3COMPLETEDProphylactic Intravitreal 5-Fluorouracil and Heparin to Prevent PVR in High-risk Patients With Retinal Detachment.
NCT06033703PHASE1/PHASE2RECRUITINGTopical Netarsudil for the Prevention of Proliferative Vitreoretinopathy in Patients With Retinal Detachment
NCT06541574PHASE2RECRUITINGPrevention of ProliFerative Vitreoretinopathy with Intravitreal MethotreXate in Primary Retinal DEtachment Repair (FIXER) Trial
NCT04891991PHASE2COMPLETEDIntravitreal Infliximab for Proliferative Vitreoretinopathy
NCT06425419PHASE1NOT_YET_RECRUITINGThe Safety and Efficacy of Intravitreal Topotecan for the Treatment of Proliferative Vitreoretinopathy
NCT02841306PHASE1COMPLETEDUrsodeoxycholic Acid for Rhegmatogenous Retinal Detachment
NCT06056596EARLY_PHASE1TERMINATEDLamivudine and Plasma Markers of Inflammation in Retinal Detachment
NCT06610786Not specifiedNOT_YET_RECRUITINGFoldable Capsular Scleral Buckling Versus Vitrectomy in Medium-complex Rhegmatogenous Retinal Detachment Treatment
NCT06694259Not specifiedRECRUITINGComparison of Anatomical and Functional Outcomes of Laser Photocoagulation and Cryopexy in Patients with Rhegmatogenous Retinal Detachment Treated with Pneumatic Retinopexy
NCT06826573Not specifiedRECRUITINGAnalysis of Risk Factors for High Intraocular Pressure and Retinal Detachment Recurrence After Vitrectomy with Silicone Oil Tamponade in Retinal Detachment Patients
NCT07081945Not specifiedRECRUITINGhAM for Inferior RRD
NCT07283614Not specifiedACTIVE_NOT_RECRUITINGOcular Hypotony and Refractive Predictability in RRD Surgery
NCT07609628Not specifiedRECRUITINGEffect of Silicon Oil on Retinal Electrical Functions Using Multifocal Electroretinogram
NCT00345007Not specifiedCOMPLETEDMacular Function After Scleral Buckle
NCT00757536Not specifiedCOMPLETEDPrimary Vitrectomy With Endolaser or Encircling Band for Rhegmatogenous Retinal Detachment
NCT01255306Not specifiedCOMPLETEDThe Influence of Silicone Oil on Nerve Fiber Layer Thickness After Pars Plana Vitrectomy
NCT01343134Not specifiedCOMPLETEDAnatomical and Functional Macular Changes in Retinal Detachment
NCT01446367Not specifiedCOMPLETEDCorneal Changes After Retinal Surgery
NCT01587794Not specifiedCOMPLETEDTopographic Changes of Retinal Layers After Resolution of Acute Retinal Detachment
NCT01639209Not specifiedCOMPLETEDPneumatic Retinopexy Versus Vitrectomy for Retinal Detachment
NCT01647373Not specifiedUNKNOWNAxial Length Change in Eyes Treated by Silicone Sponge Scleral Buckling
NCT01845571Not specifiedUNKNOWNRetinal Detachment - Demographic and Clinical Survey
NCT02185469Not specifiedUNKNOWNCorneal Endothelial Cell Loss After Pneumatic Retinopexy for the Repair of Primary Rhegmatogenous Retinal Detachment
NCT02574624Not specifiedTERMINATEDVitreous Surgery With Intraocular Assistance
NCT02871531Not specifiedUNKNOWNPneumatic Retinopexy Versus Vitrectomy for Retinal Detachment in Patients With Extended Criteria
NCT03542162Not specifiedCOMPLETEDHealaflow Patch for the Treatment of Rhegmatogenous Retinal Detachment
NCT04403750Not specifiedUNKNOWNCombined Laser-surgical Technology of RRD Treatment
NCT04520789Not specifiedUNKNOWNEarly Prevention Strategies of Severe Proliferative Vitreoretinopathy Base on Precision Diagnosis of Single Cell Sequencingvitreoretinopathy
NCT04571788Not specifiedUNKNOWNTreating Rhegmatogenous Retinal Detachment by Foldable Capsular Buckle
NCT04723420Not specifiedUNKNOWNPneumatic Retinopexy for Primary Rhegmatogenous Retinal Detachment: To Steamroll or Not
NCT05377606Not specifiedCOMPLETEDPrimary Vitrectomy With Silicone Oil or SF6 for Rhegmatogenous Retinal Detachment
NCT05588037Not specifiedUNKNOWNCombined Vitrectomy and Femtosecond Laser-assisted Cataract Surgery
NCT06324305Not specifiedUNKNOWNComparative Study Between Three Different Techniques in Drainage of SRF During PPV in RRD
NCT06347302Not specifiedCOMPLETEDStudy of Vitreoretinal Molecular Changes During Rhegmatogenous Retinal Detachment

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
NETARSUDIL42
URSODIOL42
ATROPINE41
COLCHICINE41
GLYCERIN41
MOXIFLOXACIN41
NEPAFENAC41
PREDNISOLONE41
SULFUR HEXAFLUORIDE41
TRIAMCINOLONE ACETONIDE41
DORGENMELTUCEL-L31
CHEMBL455743301
CHEMBL485467001
CHEMBL540958301
CHEMBL123091401
AIR, MEDICAL-11

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 71

This page pulls from 71 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot