Exudative vitreoretinopathy 1
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Also known as EVR1exudative vitreoretinopathy type 1
Summary
Exudative vitreoretinopathy 1 (MONDO:0007589) is a disease caused by FZD4 (GenCC Definitive), with 7 cohort genes.
At a glance
- Causal gene: FZD4 (GenCC Definitive)
- Cohort genes: 7
- ClinVar variants: 369
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | exudative vitreoretinopathy 1 |
| Mondo ID | MONDO:0007589 |
| MeSH | C536382 |
| OMIM | 133780 |
| DOID | DOID:0111412 |
| NCIT | C175048 |
| UMLS | C1851402 |
| MedGen | 343561 |
| GARD | 0015068 |
| Is cancer (heuristic) | no |
Also known as: EVR1 · exudative vitreoretinopathy 1 · exudative vitreoretinopathy type 1
Data availability: 369 ClinVar variants · 5 GenCC gene-disease records · 1 cell line.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal vascular disorder › exudative vitreoretinopathy › FZD4-related exudative vitreoretinopathy › exudative vitreoretinopathy 1
Related subtypes (1): retinopathy of prematurity
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
369 retrieved; paginated sample, class counts are floors:
175 uncertain significance, 70 likely benign, 47 benign, 28 conflicting classifications of pathogenicity, 24 benign/likely benign, 13 pathogenic, 6 likely pathogenic, 5 pathogenic/likely pathogenic, 1 not provided
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 225170 | NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) | CTNNB1 | Pathogenic | no assertion criteria provided |
| 225172 | NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) | CTNNB1 | Pathogenic | no assertion criteria provided |
| 560087 | Single allele | EED | Pathogenic | criteria provided, single submitter |
| 1706535 | NM_012193.4(FZD4):c.1273del (p.Thr425fs) | FZD4 | Pathogenic | criteria provided, single submitter |
| 1805086 | NM_012193.4(FZD4):c.244_245delinsG (p.Phe82fs) | FZD4 | Pathogenic | criteria provided, single submitter |
| 1806078 | NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys) | FZD4 | Pathogenic | criteria provided, single submitter |
| 224624 | NM_012193.4(FZD4):c.313A>G (p.Met105Val) | FZD4 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 224625 | NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) | FZD4 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 5484 | NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) | FZD4 | Pathogenic | criteria provided, single submitter |
| 5485 | NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) | FZD4 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 5488 | NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) | FZD4 | Pathogenic | no assertion criteria provided |
| 1179140 | NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) | LRP5 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2751235 | NM_002335.4(LRP5):c.1372del (p.Leu458fs) | LRP5 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 520845 | NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) | LRP5 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 6269 | NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) | LRP5 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 6274 | NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) | LRP5 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 929300 | NM_002335.4(LRP5):c.1412+1G>A | LRP5 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 5486 | NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) | PRSS23 | Pathogenic | criteria provided, single submitter |
| 2572027 | NM_012193.4(FZD4):c.740G>A (p.Arg247Lys) | FZD4 | Likely pathogenic | criteria provided, single submitter |
| 929302 | NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) | FZD4 | Likely pathogenic | criteria provided, single submitter |
| 929301 | NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) | LRP5 | Likely pathogenic | criteria provided, single submitter |
| 3382395 | NM_012193.4(FZD4):c.1051G>C (p.Ala351Pro) | PRSS23 | Likely pathogenic | criteria provided, single submitter |
| 4293656 | NM_012193.4(FZD4):c.1512G>A (p.Trp504Ter) | PRSS23 | Likely pathogenic | criteria provided, single submitter |
| 929303 | NM_012193.4(FZD4):c.615del (p.Tyr206fs) | PRSS23 | Likely pathogenic | criteria provided, single submitter |
| 143141 | NM_012193.4(FZD4):c.205C>T (p.His69Tyr) | FZD4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 306404 | NM_012193.4(FZD4):c.1517A>G (p.Lys506Arg) | FZD4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 497650 | NM_012193.4(FZD4):c.1009C>A (p.His337Asn) | FZD4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 836786 | NM_012193.4(FZD4):c.76C>A (p.Gln26Lys) | FZD4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 882147 | NM_012193.4(FZD4):c.379C>T (p.Arg127Cys) | FZD4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 882148 | NM_012193.4(FZD4):c.84G>C (p.Leu28=) | FZD4 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 7 · Orphanet: 28 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
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.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| FZD4 | Definitive | Semidominant | exudative vitreoretinopathy 1 | 7 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| FZD4 | Orphanet:891 | Familial exudative vitreoretinopathy |
| FZD4 | Orphanet:90050 | Retinopathy of prematurity |
| FZD4 | Orphanet:91495 | Persistent hyperplastic primary vitreous |
| ZNF408 | Orphanet:791 | Retinitis pigmentosa |
| ZNF408 | Orphanet:891 | Familial exudative vitreoretinopathy |
| CTNNB1 | Orphanet:1501 | Adrenocortical carcinoma |
| CTNNB1 | Orphanet:210159 | Adult hepatocellular carcinoma |
| CTNNB1 | Orphanet:2780 | Osteopathia striata-cranial sclerosis syndrome |
| CTNNB1 | Orphanet:33402 | Pediatric hepatocellular carcinoma |
| CTNNB1 | Orphanet:404473 | Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome |
| CTNNB1 | Orphanet:54595 | Craniopharyngioma |
| CTNNB1 | Orphanet:569248 | Microcystic stromal tumor |
| CTNNB1 | Orphanet:689430 | Adenoid ameloblastoma |
| CTNNB1 | Orphanet:873 | Desmoid tumor |
| CTNNB1 | Orphanet:891 | Familial exudative vitreoretinopathy |
| CTNNB1 | Orphanet:91414 | Pilomatrixoma |
| CTNNB1 | Orphanet:952 | Acrofacial dysostosis, Weyers type |
| EED | Orphanet:659396 | Cohen-Gibson syndrome |
| KIF11 | Orphanet:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome |
| LRP5 | Orphanet:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome |
| LRP5 | Orphanet:2783 | Autosomal dominant osteopetrosis type 1 |
| LRP5 | Orphanet:2788 | Osteoporosis-pseudoglioma syndrome |
| LRP5 | Orphanet:2790 | Endosteal hyperostosis, Worth type |
| LRP5 | Orphanet:2924 | Isolated polycystic liver disease |
| LRP5 | Orphanet:3416 | Hyperostosis corticalis generalisata |
| LRP5 | Orphanet:498481 | LRP5-related primary osteoporosis |
| LRP5 | Orphanet:891 | Familial exudative vitreoretinopathy |
| LRP5 | Orphanet:90050 | Retinopathy of prematurity |
Cohort genes → proteins
7 cohort genes, 7 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 7 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| FZD4 | HGNC:4042 | ENSG00000174804 | Q9ULV1 | Frizzled-4 | gencc,clinvar |
| PRSS23 | HGNC:14370 | ENSG00000150687 | O95084 | Serine protease 23 | clinvar |
| ZNF408 | HGNC:20041 | ENSG00000175213 | Q9H9D4 | Zinc finger protein 408 | clinvar |
| CTNNB1 | HGNC:2514 | ENSG00000168036 | P35222 | Catenin beta-1 | clinvar |
| EED | HGNC:3188 | ENSG00000074266 | O75530 | Polycomb protein EED | clinvar |
| KIF11 | HGNC:6388 | ENSG00000138160 | P52732 | Kinesin-like protein KIF11 | clinvar |
| LRP5 | HGNC:6697 | ENSG00000162337 | O75197 | Low-density lipoprotein receptor-related protein 5 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| FZD4 | Frizzled-4 | Receptor for Wnt proteins. |
| ZNF408 | Zinc finger protein 408 | May be involved in transcriptional regulation. |
| CTNNB1 | Catenin beta-1 | Key downstream component of the canonical Wnt signaling pathway. |
| EED | Polycomb protein EED | Polycomb group (PcG) protein. |
| KIF11 | Kinesin-like protein KIF11 | Motor protein required for establishing a bipolar spindle and thus contributing to chromosome congression during mitosis. |
| LRP5 | Low-density lipoprotein receptor-related protein 5 | Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. |
Protein-family classification
Druggable: 3 · Difficult: 2 · Unknown: 2 · Druggable fraction: 0.43
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 |
|---|---|---|---|
| Protease | 1 | 5.2× | 0.682 |
| GPCR | 1 | 3.4× | 0.682 |
| Scaffold/PPI | 1 | 2.5× | 0.682 |
| Enzyme (other) | 1 | 1.7× | 0.685 |
| Transcription factor | 1 | 1.2× | 0.714 |
| Other/Unknown | 2 | 0.5× | 0.968 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| FZD4 | GPCR | yes | Frizzled/Smoothened_7TM, Frizzled/SFRP, GPCR_2-like_7TM | |
| PRSS23 | Protease | yes | Trypsin_dom, Peptidase_S1_PA, TRYPSIN_HIS | |
| ZNF408 | Transcription factor | no | SET_dom, Znf_C2H2_type, Znf_C2H2_sf | |
| CTNNB1 | Other/Unknown | no | Armadillo, ARM-like, Beta-catenin | |
| EED | Scaffold/PPI | no | WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_CS | |
| KIF11 | Enzyme (other) | yes | 5.6.1.3 | Kinesin_motor_dom, Kinesin_motor_CS, Kinesin-assoc_MT-bd_dom |
| LRP5 | Other/Unknown | no | LDLR_classB_rpt, EGF, LDrepeatLR_classA_rpt |
Expression context
Cohort genes with no expression data: 0.
6 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) | 7 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ventricular zone | 2 |
| adipose tissue | 1 |
| right lung | 1 |
| subcutaneous adipose tissue | 1 |
| mucosa of paranasal sinus | 1 |
| nasal cavity epithelium | 1 |
| nasal cavity mucosa | 1 |
| cervix squamous epithelium | 1 |
| endothelial cell | 1 |
| tendon of biceps brachii | 1 |
| adrenal tissue | 1 |
| periodontal ligament | 1 |
| endometrium | 1 |
| endometrium epithelium | 1 |
| lymph node | 1 |
| embryo | 1 |
| ganglionic eminence | 1 |
| ascending aorta | 1 |
| mucosa of transverse colon | 1 |
| right lobe of liver | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| FZD4 | 243 | ubiquitous | marker | adipose tissue, subcutaneous adipose tissue, right lung |
| PRSS23 | 289 | ubiquitous | marker | nasal cavity epithelium, nasal cavity mucosa, mucosa of paranasal sinus |
| ZNF408 | 224 | ubiquitous | yes | endothelial cell, tendon of biceps brachii, cervix squamous epithelium |
| CTNNB1 | 295 | ubiquitous | marker | adrenal tissue, ventricular zone, periodontal ligament |
| EED | 159 | ubiquitous | marker | endometrium epithelium, lymph node, endometrium |
| KIF11 | 205 | ubiquitous | marker | ventricular zone, ganglionic eminence, embryo |
| LRP5 | 224 | ubiquitous | marker | right lobe of liver, mucosa of transverse colon, ascending aorta |
Protein interactions among cohort
Intra-cohort edges: 4.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CTNNB1 | 15,668 |
| EED | 4,092 |
| KIF11 | 3,788 |
| LRP5 | 2,619 |
| FZD4 | 1,869 |
| ZNF408 | 1,700 |
| PRSS23 | 982 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| FZD4 | LRP5 | string_interaction |
| FZD4 | ZNF408 | string_interaction |
| KIF11 | ZNF408 | string_interaction |
| LRP5 | ZNF408 | string_interaction |
Structural data
PDB: 4 · AlphaFold-only: 3 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| EED | O75530 | 78 |
| KIF11 | P52732 | 62 |
| CTNNB1 | P35222 | 50 |
| FZD4 | Q9ULV1 | 11 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| PRSS23 | O95084 | 82.18 |
| LRP5 | O75197 | 78.65 |
| ZNF408 | Q9H9D4 | 56.25 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 82. Enrichment computed across 7 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 |
|---|---|---|---|---|
| Signaling by RNF43 mutants | 2 | 423.0× | 7e-04 | FZD4, LRP5 |
| Regulation of FZD by ubiquitination | 2 | 173.0× | 0.002 | FZD4, LRP5 |
| Disassembly of the destruction complex and recruitment of AXIN to the membrane | 2 | 119.0× | 0.003 | CTNNB1, LRP5 |
| Ca2+ pathway | 2 | 59.5× | 0.009 | FZD4, CTNNB1 |
| TCF dependent signaling in response to WNT | 2 | 39.2× | 0.017 | CTNNB1, LRP5 |
| Regulation of PD-L1(CD274) transcription | 2 | 36.2× | 0.017 | CTNNB1, EED |
| LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production | 1 | 380.7× | 0.027 | CTNNB1 |
| Signaling by LRP5 mutants | 1 | 271.9× | 0.027 | LRP5 |
| CDH11 homotypic and heterotypic interactions | 1 | 271.9× | 0.027 | CTNNB1 |
| Regulation of CDH19 Expression and Function | 1 | 237.9× | 0.027 | CTNNB1 |
| InlA-mediated entry of Listeria monocytogenes into host cells | 1 | 211.5× | 0.027 | CTNNB1 |
| Binding of TCF/LEF:CTNNB1 to target gene promoters | 1 | 190.3× | 0.027 | CTNNB1 |
| RUNX3 regulates WNT signaling | 1 | 190.3× | 0.027 | CTNNB1 |
| Apoptotic cleavage of cell adhesion proteins | 1 | 173.0× | 0.027 | CTNNB1 |
| Regulation of CDH11 function | 1 | 173.0× | 0.027 | CTNNB1 |
| Regulation of CDH1 Function | 1 | 158.6× | 0.027 | CTNNB1 |
| Formation of axial mesoderm | 1 | 135.9× | 0.027 | CTNNB1 |
| WNT5A-dependent internalization of FZD4 | 1 | 126.9× | 0.027 | FZD4 |
| Signaling by GSK3beta mutants | 1 | 126.9× | 0.027 | CTNNB1 |
| CTNNB1 S33 mutants aren’t phosphorylated | 1 | 126.9× | 0.027 | CTNNB1 |
| CTNNB1 S37 mutants aren’t phosphorylated | 1 | 126.9× | 0.027 | CTNNB1 |
| CTNNB1 S45 mutants aren’t phosphorylated | 1 | 126.9× | 0.027 | CTNNB1 |
| CTNNB1 T41 mutants aren’t phosphorylated | 1 | 126.9× | 0.027 | CTNNB1 |
| Negative regulation of TCF-dependent signaling by WNT ligand antagonists | 1 | 119.0× | 0.027 | LRP5 |
| Formation of definitive endoderm | 1 | 119.0× | 0.027 | CTNNB1 |
| Beta-catenin phosphorylation cascade | 1 | 112.0× | 0.027 | CTNNB1 |
| Germ layer formation at gastrulation | 1 | 112.0× | 0.027 | CTNNB1 |
| Formation of the nephric duct | 1 | 105.7× | 0.027 | CTNNB1 |
| Specification of the neural plate border | 1 | 105.7× | 0.027 | CTNNB1 |
| Signaling by WNT in cancer | 1 | 100.2× | 0.027 | LRP5 |
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 |
|---|---|---|---|---|
| establishment of blood-brain barrier | 3 | 601.9× | 2e-06 | FZD4, CTNNB1, LRP5 |
| extracellular matrix-cell signaling | 2 | 963.0× | 1e-04 | FZD4, LRP5 |
| Norrin signaling pathway | 2 | 963.0× | 1e-04 | FZD4, LRP5 |
| establishment of blood-retinal barrier | 2 | 802.5× | 1e-04 | CTNNB1, LRP5 |
| retinal blood vessel morphogenesis | 2 | 687.8× | 1e-04 | FZD4, LRP5 |
| canonical Wnt signaling pathway | 3 | 65.7× | 4e-04 | FZD4, CTNNB1, LRP5 |
| gastrulation with mouth forming second | 2 | 267.5× | 8e-04 | CTNNB1, LRP5 |
| positive regulation of mesenchymal cell proliferation | 2 | 172.0× | 0.002 | CTNNB1, LRP5 |
| oligodendrocyte differentiation | 2 | 120.4× | 0.003 | CTNNB1, EED |
| embryonic digit morphogenesis | 2 | 86.0× | 0.005 | CTNNB1, LRP5 |
| glial cell fate determination | 1 | 2407.4× | 0.006 | CTNNB1 |
| canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation | 1 | 2407.4× | 0.006 | CTNNB1 |
| cerebellum vasculature morphogenesis | 1 | 2407.4× | 0.006 | FZD4 |
| cranial ganglion development | 1 | 2407.4× | 0.006 | CTNNB1 |
| neural plate development | 1 | 1203.7× | 0.006 | CTNNB1 |
| negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis | 1 | 1203.7× | 0.006 | CTNNB1 |
| regulation of centriole-centriole cohesion | 1 | 1203.7× | 0.006 | CTNNB1 |
| progesterone secretion | 1 | 1203.7× | 0.006 | FZD4 |
| negative regulation of mitotic cell cycle, embryonic | 1 | 1203.7× | 0.006 | CTNNB1 |
| regulation of timing of anagen | 1 | 1203.7× | 0.006 | CTNNB1 |
| positive regulation of branching involved in lung morphogenesis | 1 | 1203.7× | 0.006 | CTNNB1 |
| renal vesicle formation | 1 | 1203.7× | 0.006 | CTNNB1 |
| renal inner medulla development | 1 | 1203.7× | 0.006 | CTNNB1 |
| renal outer medulla development | 1 | 1203.7× | 0.006 | CTNNB1 |
| nephron tubule formation | 1 | 1203.7× | 0.006 | CTNNB1 |
| regulation of nephron tubule epithelial cell differentiation | 1 | 1203.7× | 0.006 | CTNNB1 |
| mesenchymal stem cell differentiation | 1 | 1203.7× | 0.006 | CTNNB1 |
| regulation of adaxial/abaxial pattern formation | 1 | 1203.7× | 0.006 | EED |
| positive regulation of determination of dorsal identity | 1 | 1203.7× | 0.006 | CTNNB1 |
| positive regulation of osteoblast differentiation | 2 | 64.2× | 0.006 | CTNNB1, LRP5 |
Therapeutics
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 4
Druggability breadth: 5 of 7 evidence-associated genes (71%) 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 |
|---|---|
| CTNNB1 | DITHIAZANINE IODIDE |
| EED | ASTEMIZOLE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| KIF11 | 6 | 3 |
| EED | 5 | 4 |
| CTNNB1 | 4 | 4 |
| FZD4 | 0 | 0 |
| PRSS23 | 0 | 0 |
| ZNF408 | 0 | 0 |
| LRP5 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| DITHIAZANINE IODIDE | 4 | CTNNB1 |
| ASTEMIZOLE | 4 | EED |
| TAZEMETOSTAT | 4 | EED |
| QUERCETIN | 3 | CTNNB1 |
| EPIGALOCATECHIN GALLATE | 3 | EED |
| GOSSYPOL | 3 | KIF11 |
| SALINOMYCIN | 2 | CTNNB1 |
| DALOSIRVAT | 2 | CTNNB1 |
| POCIREDIR | 2 | EED |
| AZD-4877 | 2 | KIF11 |
| LITRONESIB | 2 | KIF11 |
| ISPINESIB | 2 | KIF11 |
| FILANESIB | 2 | KIF11 |
| GSK2816126 | 1 | EED |
| SB-743921 | 1 | KIF11 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CTNNB1 | 361 | Binding:358, Functional:3 |
| KIF11 | 193 | Binding:185, Functional:8 |
| EED | 176 | Binding:170, Functional:6 |
| FZD4 | 7 | Functional:6, Binding:1 |
| LRP5 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| KIF11 | 5.6.1.3 | plus-end-directed kinesin ATPase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| CTNNB1 | 361 |
| EED | 176 |
| KIF11 | 193 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
15 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) |
|---|---|---|
| DITHIAZANINE IODIDE | 4 | CTNNB1 |
| ASTEMIZOLE | 4 | EED |
| TAZEMETOSTAT | 4 | EED |
| QUERCETIN | 3 | CTNNB1 |
| EPIGALOCATECHIN GALLATE | 3 | EED |
| GOSSYPOL | 3 | KIF11 |
| SALINOMYCIN | 2 | CTNNB1 |
| DALOSIRVAT | 2 | CTNNB1 |
| POCIREDIR | 2 | EED |
| AZD-4877 | 2 | KIF11 |
| LITRONESIB | 2 | KIF11 |
| ISPINESIB | 2 | KIF11 |
| FILANESIB | 2 | KIF11 |
| GSK2816126 | 1 | EED |
| SB-743921 | 1 | KIF11 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | CTNNB1, EED |
| B | Phased (≥1) drug, not yet approved | 1 | KIF11 |
| C | Druggable family + PDB, no drug | 1 | FZD4 |
| D | Druggable family + AlphaFold only, no drug | 1 | PRSS23 |
| E | Difficult family or no structure, no drug | 2 | ZNF408, LRP5 |
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) |
|---|---|---|
| ZNF408 | 0 | KIF11 |
| FZD4 | 7 | — |
| PRSS23 | 0 | — |
| LRP5 | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.