Astigmatism
diseaseOn this page
Also known as astigmatism (disease)
Summary
Astigmatism (MONDO:0011284) is a disease with 10 cohort genes and 279 clinical trials. Top therapeutic interventions include proparacaine, comfilcon a, and etafilcon a.
At a glance
- Cohort genes: 10
- ClinVar variants: 12
- Clinical trials: 279
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | astigmatism |
| Mondo ID | MONDO:0011284 |
| MeSH | D001251 |
| OMIM | 603047 |
| DOID | DOID:11782 |
| ICD-10-CM | H52.2 |
| ICD-11 | 402558626 |
| SNOMED CT | 82649003 |
| UMLS | C0004106 |
| MedGen | 2473 |
| Is cancer (heuristic) | no |
Also known as: astigmatism · astigmatism (disease)
Data availability: 12 ClinVar variants · 1 HPO phenotype.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › refractive error › astigmatism
Related subtypes (6): aniseikonia, presbyopia, myopia, transient refractive change, anisometropia, hyperopia
Subtypes (2): regular astigmatism, irregular astigmatism
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
12 retrieved; paginated sample, class counts are floors:
6 pathogenic, 4 uncertain significance, 1 likely pathogenic, 1 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 242882 | NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) | ANKRD11 | Pathogenic | no assertion criteria provided |
| 523273 | GRCh37/hg19 22q11.21(chr22:18894835-20311763) | C22orf39 | Pathogenic | criteria provided, single submitter |
| 373930 | NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) | GRIN2B | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1173069 | NM_005916.5(MCM7):c.776G>C (p.Gly259Ala) | MCM7 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1804007 | NM_005916.5(MCM7):c.133C>T (p.Gln45Ter) | MCM7 | Pathogenic | criteria provided, single submitter |
| 1804042 | NM_144643.4(SCLT1):c.1043del (p.Ser348fs) | SCLT1 | Pathogenic | criteria provided, single submitter |
| 1330190 | GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1 | WIPI2 | Pathogenic | criteria provided, single submitter |
| 1804041 | NM_144643.4(SCLT1):c.2060dup (p.Asn687fs) | SCLT1 | Likely pathogenic | criteria provided, single submitter |
| 1330213 | GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1 | CACUL1 | Uncertain significance | criteria provided, single submitter |
| 523415 | NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) | EYS | Uncertain significance | criteria provided, single submitter |
| 523282 | GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) | RNF182 | Uncertain significance | criteria provided, single submitter |
| 523398 | NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) | SLC9A6 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SLC9A6 | Orphanet:85278 | Christianson syndrome |
| ANKRD11 | Orphanet:2332 | KBG syndrome |
| ANKRD11 | Orphanet:261250 | 16q24.3 microdeletion syndrome |
| EYS | Orphanet:791 | Retinitis pigmentosa |
| SCLT1 | Orphanet:110 | Bardet-Biedl syndrome |
| GRIN2B | Orphanet:589547 | GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
| GRIN2B | Orphanet:697160 | Infantile epileptic spasms syndrome |
| MCM7 | Orphanet:2512 | Autosomal recessive primary microcephaly |
Cohort genes → proteins
10 cohort genes, 10 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 10 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SLC9A6 | HGNC:11079 | ENSG00000198689 | Q92581 | Sodium/hydrogen exchanger 6 | clinvar |
| ANKRD11 | HGNC:21316 | ENSG00000167522 | Q6UB99 | Ankyrin repeat domain-containing protein 11 | clinvar |
| EYS | HGNC:21555 | ENSG00000188107 | Q5T1H1 | Protein eyes shut homolog | clinvar |
| CACUL1 | HGNC:23727 | ENSG00000151893 | Q86Y37 | CDK2-associated and cullin domain-containing protein 1 | clinvar |
| SCLT1 | HGNC:26406 | ENSG00000151466 | Q96NL6 | Sodium channel and clathrin linker 1 | clinvar |
| C22orf39 | HGNC:27012 | ENSG00000242259 | Q6P5X5 | Synaptic plasticity regulator PANTS | clinvar |
| RNF182 | HGNC:28522 | ENSG00000180537 | Q8N6D2 | E3 ubiquitin-protein ligase RNF182 | clinvar |
| WIPI2 | HGNC:32225 | ENSG00000157954 | Q9Y4P8 | WD repeat domain phosphoinositide-interacting protein 2 | clinvar |
| GRIN2B | HGNC:4586 | ENSG00000273079 | Q13224 | Glutamate receptor ionotropic, NMDA 2B | clinvar |
| MCM7 | HGNC:6950 | ENSG00000166508 | P33993 | DNA replication licensing factor MCM7 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SLC9A6 | Sodium/hydrogen exchanger 6 | Endosomal Na(+), K(+)/H(+) antiporter. |
| ANKRD11 | Ankyrin repeat domain-containing protein 11 | Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells. |
| EYS | Protein eyes shut homolog | Required to maintain the integrity of photoreceptor cells. |
| CACUL1 | CDK2-associated and cullin domain-containing protein 1 | Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition. |
| SCLT1 | Sodium channel and clathrin linker 1 | Adapter protein that links SCN10A to clathrin. |
| C22orf39 | Synaptic plasticity regulator PANTS | Negatively regulates long-term potentiation and modulates adult synaptic plasticity. |
| RNF182 | E3 ubiquitin-protein ligase RNF182 | E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway. |
| WIPI2 | WD repeat domain phosphoinositide-interacting protein 2 | Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. |
| GRIN2B | Glutamate receptor ionotropic, NMDA 2B | Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+). |
| MCM7 | DNA replication licensing factor MCM7 | Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for ‘once per cell cycle’ DNA replication initiation and elongation in eukaryotic cells. |
Protein-family classification
Druggable: 0 · Difficult: 3 · Unknown: 7 · Druggable fraction: 0.0
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 |
|---|---|---|---|
| Scaffold/PPI | 2 | 3.5× | 0.331 |
| Other/Unknown | 7 | 1.2× | 0.425 |
| Transcription factor | 1 | 0.8× | 0.725 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SLC9A6 | Other/Unknown | no | NHE-6/7/9, NaH_exchanger, Cation/H_exchanger_TM | |
| ANKRD11 | Scaffold/PPI | no | Ankyrin_rpt, Ankyrin_rpt-contain_sf, ANKRD11 | |
| EYS | Other/Unknown | no | EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G | |
| CACUL1 | Other/Unknown | no | Cullin_N, Cullin_repeat-like_dom_sf, CACUL1 | |
| SCLT1 | Other/Unknown | no | SCLT1 | |
| C22orf39 | Other/Unknown | no | Pants/Emi1-like | |
| RNF182 | Transcription factor | no | Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS | |
| WIPI2 | Scaffold/PPI | no | WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf | |
| GRIN2B | Other/Unknown | no | Iontro_rcpt_C, Iono_Glu_rcpt_met, ANF_lig-bd_rcpt | |
| MCM7 | Other/Unknown | no | MCM_dom, AAA+_ATPase, MCM7 |
Expression context
Cohort genes with no expression data: 0.
8 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) | 10 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| middle temporal gyrus | 2 |
| buccal mucosa cell | 2 |
| cortical plate | 2 |
| ganglionic eminence | 2 |
| Brodmann (1909) area 23 | 2 |
| lateral nuclear group of thalamus | 1 |
| pons | 1 |
| stromal cell of endometrium | 1 |
| sural nerve | 1 |
| tendon of biceps brachii | 1 |
| islet of Langerhans | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| primordial germ cell in gonad | 1 |
| epithelium of nasopharynx | 1 |
| kidney epithelium | 1 |
| upper arm skin | 1 |
| leukocyte | 1 |
| monocyte | 1 |
| gastrocnemius | 1 |
| hindlimb stylopod muscle | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SLC9A6 | 286 | ubiquitous | yes | lateral nuclear group of thalamus, middle temporal gyrus, pons |
| ANKRD11 | 278 | ubiquitous | marker | tendon of biceps brachii, sural nerve, stromal cell of endometrium |
| EYS | 153 | tissue_specific | marker | primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, islet of Langerhans |
| CACUL1 | 254 | ubiquitous | marker | upper arm skin, epithelium of nasopharynx, kidney epithelium |
| SCLT1 | 217 | ubiquitous | marker | buccal mucosa cell, monocyte, leukocyte |
| C22orf39 | 250 | tissue_specific | marker | gastrocnemius, muscle of leg, hindlimb stylopod muscle |
| RNF182 | 192 | broad | yes | endothelial cell, cortical plate, ganglionic eminence |
| WIPI2 | 299 | ubiquitous | marker | middle temporal gyrus, Brodmann (1909) area 23, nipple |
| GRIN2B | 138 | broad | marker | buccal mucosa cell, cortical plate, Brodmann (1909) area 23 |
| MCM7 | 143 | ubiquitous | marker | embryo, ganglionic eminence, ventricular zone |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MCM7 | 5,413 |
| GRIN2B | 3,611 |
| ANKRD11 | 2,384 |
| EYS | 1,877 |
| SLC9A6 | 1,867 |
| CACUL1 | 1,846 |
| WIPI2 | 1,842 |
| SCLT1 | 1,478 |
| C22orf39 | 679 |
| RNF182 | 508 |
Structural data
PDB: 3 · AlphaFold-only: 7 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| GRIN2B | Q13224 | 36 |
| MCM7 | P33993 | 28 |
| WIPI2 | Q9Y4P8 | 3 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| C22orf39 | Q6P5X5 | 89.97 |
| SCLT1 | Q96NL6 | 82.44 |
| CACUL1 | Q86Y37 | 74.25 |
| RNF182 | Q8N6D2 | 70.67 |
| SLC9A6 | Q92581 | 70.61 |
| ANKRD11 | Q6UB99 | 39.44 |
| EYS | Q5T1H1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 44. Enrichment computed across 10 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 |
|---|---|---|---|---|
| Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) | 1 | 1903.3× | 0.023 | SLC9A6 |
| Activated NTRK2 signals through FYN | 1 | 317.2× | 0.048 | GRIN2B |
| Sodium/Proton exchangers | 1 | 211.5× | 0.048 | SLC9A6 |
| DNA strand elongation | 1 | 190.3× | 0.048 | MCM7 |
| Unwinding of DNA | 1 | 146.4× | 0.048 | MCM7 |
| MECP2 regulates neuronal receptors and channels | 1 | 100.2× | 0.048 | GRIN2B |
| Ras activation upon Ca2+ influx through NMDA receptor | 1 | 95.2× | 0.048 | GRIN2B |
| Unblocking of NMDA receptors, glutamate binding and activation | 1 | 90.6× | 0.048 | GRIN2B |
| Synaptic adhesion-like molecules | 1 | 90.6× | 0.048 | GRIN2B |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 1 | 90.6× | 0.048 | GRIN2B |
| Long-term potentiation | 1 | 79.3× | 0.050 | GRIN2B |
| Activation of the pre-replicative complex | 1 | 54.4× | 0.054 | MCM7 |
| DNA Replication Pre-Initiation | 1 | 52.9× | 0.054 | MCM7 |
| Activation of ATR in response to replication stress | 1 | 50.1× | 0.054 | MCM7 |
| Switching of origins to a post-replicative state | 1 | 50.1× | 0.054 | MCM7 |
| Synthesis of DNA | 1 | 50.1× | 0.054 | MCM7 |
| EPHB-mediated forward signaling | 1 | 44.3× | 0.056 | GRIN2B |
| Assembly and cell surface presentation of NMDA receptors | 1 | 42.3× | 0.056 | GRIN2B |
| DNA Replication | 1 | 39.6× | 0.056 | MCM7 |
| G1/S Transition | 1 | 38.8× | 0.056 | MCM7 |
| SLC transporter disorders | 1 | 34.0× | 0.058 | SLC9A6 |
| Neurexins and neuroligins | 1 | 32.8× | 0.058 | GRIN2B |
| Mitotic G1 phase and G1/S transition | 1 | 30.7× | 0.058 | MCM7 |
| S Phase | 1 | 30.2× | 0.058 | MCM7 |
| Orc1 removal from chromatin | 1 | 29.7× | 0.058 | MCM7 |
| Disorders of transmembrane transporters | 1 | 23.2× | 0.069 | SLC9A6 |
| Assembly of the pre-replicative complex | 1 | 23.2× | 0.069 | MCM7 |
| G2/M Checkpoints | 1 | 22.4× | 0.069 | MCM7 |
| R-HSA-425393 | 1 | 21.6× | 0.069 | SLC9A6 |
| Macroautophagy | 1 | 19.2× | 0.074 | WIPI2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 10 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| nucleophagy | 1 | 337.0× | 0.031 | WIPI2 |
| regulation of phosphorylation | 1 | 280.9× | 0.031 | MCM7 |
| negative regulation of dendritic spine maintenance | 1 | 280.9× | 0.031 | GRIN2B |
| clustering of voltage-gated sodium channels | 1 | 240.7× | 0.031 | SCLT1 |
| regulation of monoatomic cation transmembrane transport | 1 | 210.7× | 0.031 | GRIN2B |
| DNA strand elongation involved in DNA replication | 1 | 187.2× | 0.031 | MCM7 |
| dendrite extension | 1 | 168.5× | 0.031 | SLC9A6 |
| calcium ion transmembrane import into cytosol | 1 | 153.2× | 0.031 | GRIN2B |
| glycophagy | 1 | 140.4× | 0.031 | WIPI2 |
| double-strand break repair via break-induced replication | 1 | 129.6× | 0.031 | MCM7 |
| ionotropic glutamate receptor signaling pathway | 1 | 129.6× | 0.031 | GRIN2B |
| excitatory chemical synaptic transmission | 1 | 129.6× | 0.031 | GRIN2B |
| negative regulation of long-term synaptic potentiation | 1 | 129.6× | 0.031 | C22orf39 |
| regulation of synaptic plasticity | 2 | 51.9× | 0.031 | C22orf39, GRIN2B |
| pexophagy | 1 | 105.3× | 0.032 | WIPI2 |
| regulation of DNA-templated DNA replication initiation | 1 | 105.3× | 0.032 | MCM7 |
| protein heterotetramerization | 1 | 105.3× | 0.032 | GRIN2B |
| protein localization to phagophore assembly site | 1 | 99.1× | 0.032 | WIPI2 |
| glutamate receptor signaling pathway | 1 | 93.6× | 0.032 | GRIN2B |
| skeletal muscle tissue regeneration | 1 | 88.7× | 0.032 | EYS |
| autophagy of mitochondrion | 1 | 73.3× | 0.032 | WIPI2 |
| positive regulation of protein kinase activity | 1 | 67.4× | 0.032 | CACUL1 |
| regulation of neuronal synaptic plasticity | 1 | 67.4× | 0.032 | GRIN2B |
| detection of light stimulus involved in visual perception | 1 | 64.8× | 0.032 | EYS |
| DNA replication initiation | 1 | 62.4× | 0.032 | MCM7 |
| positive regulation of synaptic transmission, glutamatergic | 1 | 62.4× | 0.032 | GRIN2B |
| monoatomic cation transmembrane transport | 1 | 62.4× | 0.032 | GRIN2B |
| sodium ion import across plasma membrane | 1 | 62.4× | 0.032 | SLC9A6 |
| regulation of intracellular pH | 1 | 60.2× | 0.032 | SLC9A6 |
| positive regulation of excitatory postsynaptic potential | 1 | 52.7× | 0.035 | GRIN2B |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 9
Druggability breadth: 2 of 10 evidence-associated genes (20%) 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 |
|---|---|
| GRIN2B | HALOPERIDOL |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| GRIN2B | 35 | 4 |
| SLC9A6 | 0 | 0 |
| ANKRD11 | 0 | 0 |
| EYS | 0 | 0 |
| CACUL1 | 0 | 0 |
| SCLT1 | 0 | 0 |
| C22orf39 | 0 | 0 |
| RNF182 | 0 | 0 |
| WIPI2 | 0 | 0 |
| MCM7 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| HALOPERIDOL | 4 | GRIN2B |
| DEXTROMETHORPHAN | 4 | GRIN2B |
| KETAMINE | 4 | GRIN2B |
| CYCLOSERINE | 4 | GRIN2B |
| MEMANTINE | 4 | GRIN2B |
| TACRINE | 4 | GRIN2B |
| LEVORPHANOL | 4 | GRIN2B |
| AMANTADINE | 4 | GRIN2B |
| CHLORPROMAZINE | 4 | GRIN2B |
| PROCYCLIDINE | 4 | GRIN2B |
| ORPHENADRINE | 4 | GRIN2B |
| DALZANEMDOR | 3 | GRIN2B |
| LATREPIRDINE | 3 | GRIN2B |
| ESMETHADONE | 3 | GRIN2B |
| GLUTAMIC ACID | 3 | GRIN2B |
| TRAXOPRODIL | 2 | GRIN2B |
| ELIPRODIL | 2 | GRIN2B |
| IFENPRODIL | 2 | GRIN2B |
| EVT-101 FREE BASE | 2 | GRIN2B |
| ZELQUISTINEL | 2 | GRIN2B |
| DEXTRORPHAN | 2 | GRIN2B |
| LEVOMETHADONE | 2 | GRIN2B |
| ALPHAMETHADOL | 2 | GRIN2B |
| RADIPRODIL | 2 | GRIN2B |
| PHENCYCLIDINE | 2 | GRIN2B |
| DIZOCILPINE | 2 | GRIN2B |
| ONFASPRODIL | 2 | GRIN2B |
| TEZAMPANEL ANHYDROUS | 2 | GRIN2B |
| RACEMETHORPHAN | 2 | GRIN2B |
| LICOSTINEL | 2 | GRIN2B |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| GRIN2B | 471 | Binding:429, Functional:36, ADMET:5, Toxicity:1 |
| MCM7 | 9 | Binding:9 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| GRIN2B | 471 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 10; 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) |
|---|---|---|
| HALOPERIDOL | 4 | GRIN2B |
| DEXTROMETHORPHAN | 4 | GRIN2B |
| KETAMINE | 4 | GRIN2B |
| CYCLOSERINE | 4 | GRIN2B |
| MEMANTINE | 4 | GRIN2B |
| TACRINE | 4 | GRIN2B |
| LEVORPHANOL | 4 | GRIN2B |
| AMANTADINE | 4 | GRIN2B |
| CHLORPROMAZINE | 4 | GRIN2B |
| PROCYCLIDINE | 4 | GRIN2B |
| ORPHENADRINE | 4 | GRIN2B |
| DALZANEMDOR | 3 | GRIN2B |
| LATREPIRDINE | 3 | GRIN2B |
| ESMETHADONE | 3 | GRIN2B |
| GLUTAMIC ACID | 3 | GRIN2B |
| TRAXOPRODIL | 2 | GRIN2B |
| ELIPRODIL | 2 | GRIN2B |
| IFENPRODIL | 2 | GRIN2B |
| EVT-101 FREE BASE | 2 | GRIN2B |
| ZELQUISTINEL | 2 | GRIN2B |
| DEXTRORPHAN | 2 | GRIN2B |
| LEVOMETHADONE | 2 | GRIN2B |
| ALPHAMETHADOL | 2 | GRIN2B |
| RADIPRODIL | 2 | GRIN2B |
| PHENCYCLIDINE | 2 | GRIN2B |
| DIZOCILPINE | 2 | GRIN2B |
| ONFASPRODIL | 2 | GRIN2B |
| TEZAMPANEL ANHYDROUS | 2 | GRIN2B |
| RACEMETHORPHAN | 2 | GRIN2B |
| LICOSTINEL | 2 | GRIN2B |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | GRIN2B |
| 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 | 9 | SLC9A6, ANKRD11, EYS, CACUL1, SCLT1, C22orf39, RNF182, WIPI2, MCM7 |
Undrugged target profiles
9 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| SLC9A6 | 0 | — |
| ANKRD11 | 0 | — |
| EYS | 0 | — |
| CACUL1 | 0 | — |
| SCLT1 | 0 | — |
| C22orf39 | 0 | — |
| RNF182 | 0 | — |
| WIPI2 | 0 | — |
| MCM7 | 9 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 279.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 256 |
| PHASE4 | 14 |
| PHASE3 | 5 |
| PHASE1/PHASE2 | 2 |
| EARLY_PHASE1 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07140653 | PHASE4 | RECRUITING | Arcuate Incisions With Light Adjustable Lens for Astigmatism Correction in Lens Surgery |
| NCT00770094 | PHASE4 | UNKNOWN | Multi Laser Platform Comparison Study for LASIK |
| NCT00821236 | PHASE4 | COMPLETED | Contralateral Comparison of Three Excimer Laser Systems in Performing LASIK |
| NCT00825513 | PHASE4 | COMPLETED | Safety and Effectiveness of the Akreos Toric Intraocular Lens. |
| NCT01018797 | PHASE4 | COMPLETED | Intrastromal Corneal Ring for High Astigmatism on Postkeratoplasty |
| NCT01279031 | PHASE4 | COMPLETED | Randomized Comparison of the Abbott WHITESTAR Signature System With Ellips Tranversal Ultrasound vs. the Alcon Infiniti With the Ozil Torsional Handpiece in Phacoemulsification: A Contralaterally-Controlled Trial |
| NCT01396616 | PHASE4 | UNKNOWN | Clinical Evaluation of Toric Intraocular Lens Made by Aurolab |
| NCT01454843 | PHASE4 | COMPLETED | LASIK Using the Alcon Allegretto Wavefront-Guided Excimer Laser vs AMO Visx Wavefront-Guided Excimer Laser |
| NCT01554761 | PHASE4 | UNKNOWN | Effect of Posterior Corneal Toricity on Refractive Outcome of Pseudophakia |
| NCT01885780 | PHASE4 | COMPLETED | Prospective Evaluation of the Effectiveness of the Femtosecond Laser-assisted Refractive Astigmatic Keratotomy. |
| NCT04208750 | PHASE4 | COMPLETED | Clinical Investigation of the Vision-R800 Device. |
| NCT04283331 | PHASE4 | UNKNOWN | Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK) |
| NCT04321226 | PHASE4 | UNKNOWN | Femtosecond Laser-assisted Astigmatism Treatment |
| NCT04418986 | PHASE4 | COMPLETED | Incisional Correction of Corneal Astigmatism During Phacoemulsification |
| NCT00000123 | PHASE3 | COMPLETED | The Berkeley Orthokeratology Study |
| NCT00663923 | PHASE3 | COMPLETED | Comparison of Cross-cylinder and Conventional Photorefractive Keratectomy(PRK) in Correcting Medium-high Astigmatism |
| NCT00928122 | PHASE3 | UNKNOWN | Intrastromal Correction of Ametropia by a Femtosecond Laser |
| NCT01673503 | PHASE3 | COMPLETED | A Prospective Study of Femtosecond Laser Intracorneal Lensectomi |
| NCT05247658 | PHASE3 | TERMINATED | Use of a Disk of Amniotic Membrane (Visio-AMTRIX) in Postoperative Care After PKR |
| NCT00876707 | PHASE1/PHASE2 | COMPLETED | Wavefront Analyzes and Visual Performance of Three Multifocal Intra-ocular Lenses |
| NCT01024855 | PHASE1/PHASE2 | COMPLETED | Comparative Evaluation of Corneal Staining With Balafilcon A Lenses and Two Multi-Purpose Solutions |
| NCT06896357 | PHASE1 | NOT_YET_RECRUITING | Effectiveness and Safety of Limbal Relaxing Incisions for Correcting Post Phacoemulsification High Astigmatism |
| NCT06742541 | EARLY_PHASE1 | COMPLETED | ICL and LASIK for Hyperopic Astigmatism |
| NCT02576483 | Not specified | RECRUITING | An Evaluation of LASIK, SMILE and PRK Surgery in Physicians |
| NCT03299530 | Not specified | RECRUITING | Accuracy of Corneal Astigmatism in Different Region Modes |
| NCT03803852 | Not specified | RECRUITING | Rotation of Hydrophobic Acrylic Lenses - Rayner RA0800C & Alcon Clareon & Hoya Nanex & Hoya Vivinex XY1-EM & RayOne EMV Toric & PODEYE Toric |
| NCT05486546 | Not specified | RECRUITING | Contoura With Phorcides Compared to Wavefront Optimized LASIK |
| NCT05611294 | Not specified | ACTIVE_NOT_RECRUITING | Contralateral Study of Topography Guided LASIK Versus Small Incision Lenticule Extraction |
| NCT05796453 | Not specified | ACTIVE_NOT_RECRUITING | Post Market Clinical Follow-up (PMCF) Study of Clareon Vivity & Clareon PanOptix |
| NCT06059521 | Not specified | RECRUITING | Software Refraction With Mobilerone Versus Retinoscopy |
| NCT06477081 | Not specified | RECRUITING | KLEx Versus FS-LASIK for the Treatment of Myopia and Compound Myopic Astigmatism |
| NCT06571773 | Not specified | ACTIVE_NOT_RECRUITING | Evaluation of Toric Intraocular Lens(IOL) Combined With Capsular Tension Ring(CTR) in Patients With Cataract Combined With High Myopia |
| NCT06694051 | Not specified | RECRUITING | Application of Phototherapeutic Keratectomy Mode to Mark the Axis of Astigmatism |
| NCT06775509 | Not specified | ACTIVE_NOT_RECRUITING | Optical Quality of the Cornea in Orthokeratology |
| NCT06785194 | Not specified | NOT_YET_RECRUITING | Revive Toric RWE Study |
| NCT06902584 | Not specified | RECRUITING | North American Comfilcon A Clinical Study |
| NCT07007897 | Not specified | ENROLLING_BY_INVITATION | Observational Study - TA- 2025-1 |
| NCT07046065 | Not specified | RECRUITING | Algorithm-assisted Subjective Refraction Program Dedicated to Children |
| NCT07078799 | Not specified | RECRUITING | Wavefront-guided LASIK Surgery Compared to Ray Tracing-Guided LASIK Surgery |
| NCT07084844 | Not specified | RECRUITING | Patient Reported Outcomes With WaveLight Plus LASIK |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PROPARACAINE | 4 | 1 |
| COMFILCON A | 3 | 4 |
| ETAFILCON A | 3 | 4 |
| SENOFILCON A | 3 | 4 |
| ENFILCON A | 3 | 3 |
| LOTRAFILCON B | 3 | 2 |
| NELFILCON A | 3 | 2 |
| STENFILCON A | 3 | 1 |
| BALAFILCON A | 1 | 1 |
| CHEMBL443232 | 0 | 1 |
| OMAFILCON B | -1 | 1 |
| SAMFILCON A | -1 | 1 |
Related Atlas pages
- Cohort genes: SLC9A6, ANKRD11, EYS, CACUL1, SCLT1, C22orf39, RNF182, WIPI2, GRIN2B, MCM7
- Drugs: Proparacaine, Comfilcon A, Etafilcon A, Senofilcon A, Enfilcon A, Lotrafilcon B, Nelfilcon A, Stenfilcon A