OPTN-related open angle glaucoma
diseaseOn this page
Also known as glaucoma 1, open angle, E
Summary
OPTN-related open angle glaucoma (MONDO:0100553) is a disease with 9 cohort genes.
At a glance
- Cohort genes: 9
- ClinVar variants: 434
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | OPTN-related open angle glaucoma |
| Mondo ID | MONDO:0100553 |
| OMIM | 137760 |
| UMLS | C0339573 |
| MedGen | 87389 |
| GARD | 0026277 |
| Is cancer (heuristic) | no |
Also known as: glaucoma 1, open angle, E · OPTN-related open angle glaucoma
Data availability: 434 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › glaucoma › open-angle glaucoma › OPTN-related open angle glaucoma
Related subtypes (6): residual stage of open angle glaucoma, low tension glaucoma, glaucoma 1, open angle, P, glaucoma type 1C, glaucoma 1, open angle, O, juvenile open angle glaucoma
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
434 retrieved; paginated sample, class counts are floors:
212 uncertain significance, 102 likely benign, 35 pathogenic, 24 conflicting classifications of pathogenicity, 22 benign, 12 likely pathogenic, 11 pathogenic/likely pathogenic, 11 benign/likely benign, 5 risk factor
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 584050 | NC_000010.10:g.(?12833157)(13178866_?)del | CAMK1D | Pathogenic | criteria provided, single submitter |
| 1323386 | NM_001008212.2(OPTN):c.76dup (p.His26fs) | LOC108903148 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2929988 | NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter) | LOC108903148 | Pathogenic | criteria provided, single submitter |
| 4792704 | NM_001008212.2(OPTN):c.148del (p.Glu50fs) | LOC108903148 | Pathogenic | criteria provided, single submitter |
| 489125 | NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) | LOC108903148 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 529764 | NC_000010.11:g.(?13109103)(13136886_?)del | LOC108903149 | Pathogenic | criteria provided, single submitter |
| 7949 | NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) | MYOC | Pathogenic | reviewed by expert panel |
| 1384838 | NC_000010.11:g.13122383AG[1] | OPTN | Pathogenic | criteria provided, single submitter |
| 1409027 | NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) | OPTN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1425874 | NC_000010.10:g.(?13151123)(13178866_?)del | OPTN | Pathogenic | criteria provided, single submitter |
| 1451918 | NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) | OPTN | Pathogenic | criteria provided, single submitter |
| 1455344 | NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) | OPTN | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1459219 | NC_000010.10:g.(?13158247)(13158360_?)del | OPTN | Pathogenic | criteria provided, single submitter |
| 1459834 | NC_000010.10:g.(?13152254)(13161060_?)del | OPTN | Pathogenic | criteria provided, single submitter |
| 1775090 | NM_001008212.2(OPTN):c.1003C>T (p.Gln335Ter) | OPTN | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1801690 | NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter) | OPTN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 191266 | NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) | OPTN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1917899 | NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter) | OPTN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2042501 | NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs) | OPTN | Pathogenic | criteria provided, single submitter |
| 2061646 | NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter) | OPTN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2090693 | NM_001008212.2(OPTN):c.666del (p.Lys223fs) | OPTN | Pathogenic | criteria provided, single submitter |
| 2126803 | NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter) | OPTN | Pathogenic | criteria provided, single submitter |
| 2198963 | NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter) | OPTN | Pathogenic | criteria provided, single submitter |
| 2426699 | NC_000010.10:g.(?13151123)(13158360_?)del | OPTN | Pathogenic | criteria provided, single submitter |
| 2426700 | NC_000010.10:g.(?13154433)(13161060_?)del | OPTN | Pathogenic | criteria provided, single submitter |
| 2426701 | NC_000010.10:g.(?13164365)(13168059_?)del | OPTN | Pathogenic | criteria provided, single submitter |
| 2636905 | NM_001008212.2(OPTN):c.1204_1210del (p.Asn401_Asn402insTer) | OPTN | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2928942 | NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs) | OPTN | Pathogenic | criteria provided, single submitter |
| 2931123 | NM_001008212.2(OPTN):c.523del (p.Glu175fs) | OPTN | Pathogenic | criteria provided, single submitter |
| 2936645 | NM_001008212.2(OPTN):c.1103del (p.Met368fs) | OPTN | Pathogenic | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 15 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| TBK1 | Orphanet:1930 | Herpes simplex virus encephalitis |
| TBK1 | Orphanet:275872 | Frontotemporal dementia with motor neuron disease |
| TBK1 | Orphanet:803 | Amyotrophic lateral sclerosis |
| OPTN | Orphanet:803 | Amyotrophic lateral sclerosis |
| CYP1B1 | Orphanet:708 | Peters anomaly |
| CYP1B1 | Orphanet:98976 | Congenital glaucoma |
| CYP1B1 | Orphanet:98977 | Juvenile glaucoma |
| LTBP2 | Orphanet:238763 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea |
| LTBP2 | Orphanet:3449 | Weill-Marchesani syndrome |
| LTBP2 | Orphanet:98976 | Congenital glaucoma |
| LTBP3 | Orphanet:2623 | Geleophysic dysplasia |
| LTBP3 | Orphanet:2899 | Brachyolmia-amelogenesis imperfecta syndrome |
| LTBP3 | Orphanet:969 | Acromicric dysplasia |
| MYOC | Orphanet:98976 | Congenital glaucoma |
| MYOC | Orphanet:98977 | Juvenile glaucoma |
Cohort genes → proteins
9 cohort genes, 9 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 9 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TBK1 | HGNC:11584 | ENSG00000183735 | Q9UHD2 | Serine/threonine-protein kinase TBK1 | clinvar |
| CARD10 | HGNC:16422 | ENSG00000100065 | Q9BWT7 | Caspase recruitment domain-containing protein 10 | clinvar |
| OPTN | HGNC:17142 | ENSG00000123240 | Q96CV9 | Optineurin | clinvar |
| CAMK1D | HGNC:19341 | ENSG00000183049 | Q8IU85 | Calcium/calmodulin-dependent protein kinase type 1D | clinvar |
| CYP1B1 | HGNC:2597 | ENSG00000138061 | Q16678 | Cytochrome P450 1B1 | clinvar |
| WDR36 | HGNC:30696 | ENSG00000134987 | Q8NI36 | WD repeat-containing protein 36 | clinvar |
| LTBP2 | HGNC:6715 | ENSG00000119681 | Q14767 | Latent-transforming growth factor beta-binding protein 2 | clinvar |
| LTBP3 | HGNC:6716 | ENSG00000168056 | Q9NS15 | Latent-transforming growth factor beta-binding protein 3 | clinvar |
| MYOC | HGNC:7610 | ENSG00000034971 | Q99972 | Myocilin | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TBK1 | Serine/threonine-protein kinase TBK1 | Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. |
| CARD10 | Caspase recruitment domain-containing protein 10 | Scaffold protein that plays an important role in mediating the activation of NF-kappa-B via BCL10 or EGFR. |
| OPTN | Optineurin | Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. |
| CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and res… |
| CYP1B1 | Cytochrome P450 1B1 | A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. |
| WDR36 | WD repeat-containing protein 36 | Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. |
| LTBP2 | Latent-transforming growth factor beta-binding protein 2 | May play an integral structural role in elastic-fiber architectural organization and/or assembly. |
| LTBP3 | Latent-transforming growth factor beta-binding protein 3 | Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. |
| MYOC | Myocilin | Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. |
Protein-family classification
Druggable: 2 · Difficult: 1 · Unknown: 6 · Druggable fraction: 0.22
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 | 2 | 6.2× | 0.119 |
| Scaffold/PPI | 1 | 1.9× | 0.415 |
| Other/Unknown | 6 | 1.2× | 0.415 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TBK1 | Kinase | yes | Prot_kinase_dom, Kinase-like_dom_sf, Protein_kinase_ATP_BS | |
| CARD10 | Other/Unknown | no | CARD, DEATH-like_dom_sf, P-loop_NTPase | |
| OPTN | Other/Unknown | no | NEMO_N, CC2-LZ_dom, NEMO_ZF | |
| CAMK1D | Kinase | yes | 2.7.11.17 | Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf |
| CYP1B1 | Other/Unknown | no | Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS | |
| WDR36 | Scaffold/PPI | no | WD40_rpt, WDR36/Utp21_C, WD40/YVTN_repeat-like_dom_sf | |
| LTBP2 | Other/Unknown | no | EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom | |
| LTBP3 | Other/Unknown | no | EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom | |
| MYOC | Other/Unknown | no | Olfac-like_dom, Olfactomedin-like_domain |
Expression context
Cohort genes with no expression data: 0.
9 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) | 9 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| calcaneal tendon | 3 |
| ascending aorta | 2 |
| descending thoracic aorta | 2 |
| thoracic aorta | 2 |
| colonic epithelium | 1 |
| lateral nuclear group of thalamus | 1 |
| jejunal mucosa | 1 |
| pancreatic ductal cell | 1 |
| parotid gland | 1 |
| amniotic fluid | 1 |
| gastrocnemius | 1 |
| muscle of leg | 1 |
| middle temporal gyrus | 1 |
| parietal lobe | 1 |
| postcentral gyrus | 1 |
| cartilage tissue | 1 |
| pericardium | 1 |
| synovial joint | 1 |
| deltoid | 1 |
| tibialis anterior | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TBK1 | 284 | ubiquitous | marker | colonic epithelium, calcaneal tendon, lateral nuclear group of thalamus |
| CARD10 | 243 | ubiquitous | marker | parotid gland, jejunal mucosa, pancreatic ductal cell |
| OPTN | 302 | ubiquitous | marker | amniotic fluid, gastrocnemius, muscle of leg |
| CAMK1D | 260 | ubiquitous | marker | middle temporal gyrus, parietal lobe, postcentral gyrus |
| CYP1B1 | 285 | ubiquitous | marker | pericardium, cartilage tissue, synovial joint |
| WDR36 | 249 | ubiquitous | marker | calcaneal tendon, tibialis anterior, deltoid |
| LTBP2 | 276 | ubiquitous | marker | descending thoracic aorta, thoracic aorta, ascending aorta |
| LTBP3 | 279 | broad | marker | descending thoracic aorta, thoracic aorta, ascending aorta |
| MYOC | 201 | tissue_specific | marker | calcaneal tendon, mucosa of stomach, esophagogastric junction muscularis propria |
Protein interactions among cohort
Intra-cohort edges: 10.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TBK1 | 5,476 |
| OPTN | 3,505 |
| WDR36 | 3,290 |
| CYP1B1 | 2,883 |
| LTBP2 | 2,658 |
| LTBP3 | 2,339 |
| CARD10 | 2,265 |
| CAMK1D | 2,071 |
| MYOC | 1,272 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| CYP1B1 | LTBP2 | string_interaction |
| CYP1B1 | MYOC | string_interaction |
| CYP1B1 | OPTN | string_interaction |
| CYP1B1 | WDR36 | string_interaction |
| LTBP2 | MYOC | string_interaction |
| LTBP2 | WDR36 | string_interaction |
| MYOC | OPTN | string_interaction |
| MYOC | WDR36 | string_interaction |
| OPTN | TBK1 | intact, string_interaction |
| OPTN | WDR36 | string_interaction |
Structural data
PDB: 6 · AlphaFold-only: 3 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TBK1 | Q9UHD2 | 25 |
| MYOC | Q99972 | 24 |
| OPTN | Q96CV9 | 14 |
| CAMK1D | Q8IU85 | 7 |
| WDR36 | Q8NI36 | 3 |
| CYP1B1 | Q16678 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| CARD10 | Q9BWT7 | 70.22 |
| LTBP3 | Q9NS15 | 64.21 |
| LTBP2 | Q14767 | 58.33 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 62. Enrichment computed across 9 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 |
|---|---|---|---|---|
| Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligation | 2 | 317.2× | 5e-04 | TBK1, OPTN |
| TICAM1-dependent activation of IRF3/IRF7 | 2 | 271.9× | 5e-04 | TBK1, OPTN |
| Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7 | 2 | 253.8× | 5e-04 | TBK1, OPTN |
| Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE) | 2 | 200.3× | 6e-04 | TBK1, OPTN |
| TNFR1-induced proapoptotic signaling | 2 | 146.4× | 9e-04 | TBK1, OPTN |
| PINK1-PRKN Mediated Mitophagy | 2 | 119.0× | 0.001 | TBK1, OPTN |
| Elastic fibre formation | 2 | 112.0× | 0.001 | LTBP2, LTBP3 |
| TGF-beta receptor signaling activates SMADs | 2 | 108.8× | 0.001 | LTBP2, LTBP3 |
| Molecules associated with elastic fibres | 2 | 102.9× | 0.001 | LTBP2, LTBP3 |
| Regulation of TNFR1 signaling | 2 | 74.6× | 0.002 | TBK1, OPTN |
| Signaling by TGF-beta Receptor Complex | 2 | 66.8× | 0.002 | LTBP2, LTBP3 |
| Defective CYP1B1 causes Glaucoma | 1 | 1903.3× | 0.003 | CYP1B1 |
| Signaling by TGFB family members | 2 | 38.5× | 0.005 | LTBP2, LTBP3 |
| STAT6-mediated induction of chemokines | 1 | 634.4× | 0.007 | TBK1 |
| IRF3 mediated activation of type 1 IFN | 1 | 317.2× | 0.013 | TBK1 |
| Extracellular matrix organization | 2 | 21.0× | 0.014 | LTBP2, LTBP3 |
| Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) | 1 | 237.9× | 0.015 | CYP1B1 |
| Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) | 1 | 211.5× | 0.016 | CYP1B1 |
| ZBP1(DAI) mediated induction of type I IFNs | 1 | 173.0× | 0.017 | TBK1 |
| STING mediated induction of host immune responses | 1 | 173.0× | 0.017 | TBK1 |
| Mitophagy | 1 | 173.0× | 0.017 | TBK1 |
| IRF3-mediated induction of type I IFN | 1 | 135.9× | 0.020 | TBK1 |
| Regulation of innate immune responses to cytosolic DNA | 1 | 126.9× | 0.020 | TBK1 |
| TRAF3-dependent IRF activation pathway | 1 | 126.9× | 0.020 | TBK1 |
| Interleukin-37 signaling | 1 | 86.5× | 0.029 | TBK1 |
| TNF signaling | 1 | 70.5× | 0.033 | TBK1 |
| Endogenous sterols | 1 | 65.6× | 0.033 | CYP1B1 |
| TRAF6 mediated IRF7 activation | 1 | 63.4× | 0.033 | TBK1 |
| Signal Transduction | 3 | 5.1× | 0.033 | TBK1, LTBP2, LTBP3 |
| TNFR1-induced NF-kappa-B signaling pathway | 1 | 56.0× | 0.037 | OPTN |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 9 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| positive regulation of xenophagy | 2 | 468.1× | 9e-04 | TBK1, OPTN |
| skeletal muscle hypertrophy | 1 | 1872.4× | 0.018 | MYOC |
| benzene-containing compound metabolic process | 1 | 1872.4× | 0.018 | CYP1B1 |
| regulation of granulocyte chemotaxis | 1 | 1872.4× | 0.018 | CAMK1D |
| positive regulation of autophagy | 2 | 46.2× | 0.021 | TBK1, OPTN |
| trabecular meshwork development | 1 | 936.2× | 0.023 | CYP1B1 |
| dendritic cell proliferation | 1 | 624.1× | 0.024 | TBK1 |
| obsolete membrane lipid catabolic process | 1 | 468.1× | 0.024 | CYP1B1 |
| endothelial cell-cell adhesion | 1 | 468.1× | 0.024 | CYP1B1 |
| negative regulation of receptor recycling | 1 | 374.5× | 0.024 | OPTN |
| positive regulation of respiratory burst | 1 | 374.5× | 0.024 | CAMK1D |
| type 2 mitophagy | 1 | 374.5× | 0.024 | OPTN |
| cGAS/STING signaling pathway | 1 | 374.5× | 0.024 | TBK1 |
| steroid catabolic process | 1 | 267.5× | 0.024 | CYP1B1 |
| clustering of voltage-gated sodium channels | 1 | 267.5× | 0.024 | MYOC |
| retinal blood vessel morphogenesis | 1 | 267.5× | 0.024 | CYP1B1 |
| positive regulation of mesenchymal stem cell differentiation | 1 | 267.5× | 0.024 | LTBP3 |
| cell death | 1 | 234.1× | 0.024 | OPTN |
| toxin metabolic process | 1 | 234.1× | 0.024 | CYP1B1 |
| lung saccule development | 1 | 234.1× | 0.024 | LTBP3 |
| positive regulation of mesenchymal stem cell proliferation | 1 | 234.1× | 0.024 | LTBP3 |
| positive regulation of TORC2 signaling | 1 | 234.1× | 0.024 | TBK1 |
| transforming growth factor beta receptor signaling pathway | 2 | 35.3× | 0.024 | LTBP2, LTBP3 |
| activation of NF-kappaB-inducing kinase activity | 1 | 187.2× | 0.025 | CARD10 |
| regulation of type I interferon production | 1 | 187.2× | 0.025 | TBK1 |
| obsolete positive regulation of CREB transcription factor activity | 1 | 187.2× | 0.025 | CAMK1D |
| ERBB2-ERBB3 signaling pathway | 1 | 187.2× | 0.025 | MYOC |
| positive regulation of mitochondrial depolarization | 1 | 187.2× | 0.025 | MYOC |
| Golgi ribbon formation | 1 | 170.2× | 0.026 | OPTN |
| omega-hydroxylase P450 pathway | 1 | 170.2× | 0.026 | CYP1B1 |
Therapeutics
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 6
Druggability breadth: 5 of 9 evidence-associated genes (56%) 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 |
|---|---|
| TBK1 | MOMELOTINIB |
| CAMK1D | FEDRATINIB |
| CYP1B1 | PAZOPANIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TBK1 | 38 | 4 |
| CAMK1D | 25 | 4 |
| CYP1B1 | 22 | 4 |
| CARD10 | 0 | 0 |
| OPTN | 0 | 0 |
| WDR36 | 0 | 0 |
| LTBP2 | 0 | 0 |
| LTBP3 | 0 | 0 |
| MYOC | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| MOMELOTINIB | 4 | TBK1 |
| AMLEXANOX | 4 | TBK1 |
| FEDRATINIB | 4 | CAMK1D, TBK1 |
| RUXOLITINIB | 4 | CAMK1D, TBK1 |
| ENTRECTINIB | 4 | CAMK1D, TBK1 |
| PACRITINIB | 4 | TBK1 |
| BOSUTINIB | 4 | CAMK1D, TBK1 |
| FILGOTINIB | 4 | TBK1 |
| NINTEDANIB | 4 | CAMK1D, TBK1 |
| SUNITINIB | 4 | CAMK1D, TBK1 |
| ERLOTINIB | 4 | TBK1 |
| CRIZOTINIB | 4 | TBK1 |
| MIDOSTAURIN | 4 | CAMK1D, TBK1 |
| NERATINIB | 4 | CAMK1D |
| TOFACITINIB CITRATE | 4 | CAMK1D |
| TOFACITINIB | 4 | CAMK1D |
| UPADACITINIB | 4 | CAMK1D |
| PAZOPANIB | 4 | CYP1B1 |
| INDACATEROL | 4 | CYP1B1 |
| ESTRADIOL | 4 | CYP1B1 |
| CANNABIDIOL | 4 | CYP1B1 |
| BERBERINE | 4 | CYP1B1 |
| MELATONIN | 4 | CYP1B1 |
| ERYTHROMYCIN | 4 | CYP1B1 |
| CARVEDILOL | 4 | CYP1B1 |
| ORANTINIB | 3 | TBK1 |
| ALVOCIDIB | 3 | TBK1 |
| DOVITINIB | 3 | TBK1 |
| LESTAURTINIB | 3 | CAMK1D, TBK1 |
| RUBOXISTAURIN | 3 | CAMK1D, TBK1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| TBK1 | 475 | Binding:473, Functional:2 |
| CYP1B1 | 408 | ADMET:281, Binding:127 |
| CAMK1D | 276 | Binding:274, Functional:2 |
| MYOC | 4 | Binding:4 |
| WDR36 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| CAMK1D | 2.7.11.17 | Ca2+/calmodulin-dependent protein kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| TBK1 | 475 |
| CAMK1D | 276 |
| CYP1B1 | 408 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 9; 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) |
|---|---|---|
| MOMELOTINIB | 4 | TBK1 |
| AMLEXANOX | 4 | TBK1 |
| FEDRATINIB | 4 | CAMK1D, TBK1 |
| RUXOLITINIB | 4 | CAMK1D, TBK1 |
| ENTRECTINIB | 4 | CAMK1D, TBK1 |
| PACRITINIB | 4 | TBK1 |
| BOSUTINIB | 4 | CAMK1D, TBK1 |
| FILGOTINIB | 4 | TBK1 |
| NINTEDANIB | 4 | CAMK1D, TBK1 |
| SUNITINIB | 4 | CAMK1D, TBK1 |
| ERLOTINIB | 4 | TBK1 |
| CRIZOTINIB | 4 | TBK1 |
| MIDOSTAURIN | 4 | CAMK1D, TBK1 |
| NERATINIB | 4 | CAMK1D |
| TOFACITINIB CITRATE | 4 | CAMK1D |
| TOFACITINIB | 4 | CAMK1D |
| UPADACITINIB | 4 | CAMK1D |
| PAZOPANIB | 4 | CYP1B1 |
| INDACATEROL | 4 | CYP1B1 |
| ESTRADIOL | 4 | CYP1B1 |
| CANNABIDIOL | 4 | CYP1B1 |
| BERBERINE | 4 | CYP1B1 |
| MELATONIN | 4 | CYP1B1 |
| ERYTHROMYCIN | 4 | CYP1B1 |
| CARVEDILOL | 4 | CYP1B1 |
| ORANTINIB | 3 | TBK1 |
| ALVOCIDIB | 3 | TBK1 |
| DOVITINIB | 3 | TBK1 |
| LESTAURTINIB | 3 | CAMK1D, TBK1 |
| RUBOXISTAURIN | 3 | CAMK1D, TBK1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | TBK1, CAMK1D, CYP1B1 |
| 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 | 6 | CARD10, OPTN, WDR36, LTBP2, LTBP3, MYOC |
Undrugged target profiles
6 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| OPTN | 0 | TBK1 |
| MYOC | 4 | CYP1B1 |
| CARD10 | 0 | — |
| WDR36 | 1 | — |
| LTBP2 | 0 | — |
| LTBP3 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.