Hyperopia
diseaseOn this page
Also known as hypermetropia
Summary
Hyperopia (MONDO:0004891) is a disease caused by MYRF (GenCC Strong), with 10 cohort genes (4 GWAS associations across 7 studies) and 122 clinical trials. Top therapeutic interventions include codeine, levofloxacin anhydrous, and nepafenac.
At a glance
- Causal gene: MYRF (GenCC Strong)
- Cohort genes: 10
- GWAS associations: 4
- ClinVar variants: 12
- Clinical trials: 122
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hyperopia |
| Mondo ID | MONDO:0004891 |
| MeSH | D006956 |
| DOID | DOID:9834 |
| ICD-10-CM | H52.0 |
| SNOMED CT | 38101003 |
| UMLS | C0020490 |
| MedGen | 43780 |
| Is cancer (heuristic) | no |
Also known as: hypermetropia
Data availability: 12 ClinVar variants · 4 GWAS associations (7 studies) · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › refractive error › hyperopia
Related subtypes (6): aniseikonia, presbyopia, myopia, transient refractive change, anisometropia, astigmatism
Genetics & variants
GWAS landscape
4 GWAS associations across 7 studies. Top hits map to 2 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs429358 | 1e-07 | APOE | C | 1.77 |
| rs2352179 | 2e-07 | GRID1 | T | 1.67 |
| rs78011035 | 3e-06 | PARP8 - LINC02106 | A | 2.47 |
| rs10153386 | 8e-06 | GTSCR1 - LINC01541 | G | 2.01 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90079387 | Backman JD | 2021 | 23,800 | 3,778 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083373 | Backman JD | 2021 | 23,800 | 3,778 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90079385 | Backman JD | 2021 | 2,102 | 25,476 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083371 | Backman JD | 2021 | 2,102 | 25,476 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90079386 | Backman JD | 2021 | 1,912 | 25,666 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083372 | Backman JD | 2021 | 1,912 | 25,666 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST008740 | Shaaban S | 2018 | 361 | 1,700 | Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 4 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intergenic_variant | 2 |
| missense_variant | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs429358 | 19 | 44908684 | T>C | 0.05 | missense_variant | APOE | 1e-07 | Tier 1: coding |
| rs2352179 | 10 | 86030323 | C>A,T | 0.05 | intron_variant | GRID1 | 2e-07 | Tier 4: intronic/intergenic |
| rs78011035 | 5 | 50881621 | G>A,T | 0.05 | intergenic_variant | PARP8 - LINC02106 | 3e-06 | Tier 4: intronic/intergenic |
| rs10153386 | 18 | 70948356 | A>G | 0.05 | intergenic_variant | GTSCR1 - LINC01541 | 8e-06 | Tier 4: intronic/intergenic |
ClinVar germline variants
12 retrieved; paginated sample, class counts are floors:
5 pathogenic, 4 uncertain significance, 3 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 268035 | 46;XX;t(19;21)(q13.3;q22.3)dn | Pathogenic | criteria provided, single submitter | |
| 242882 | NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) | ANKRD11 | Pathogenic | no assertion criteria provided |
| 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 |
| 183286 | NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) | DMBX1 | Likely pathogenic | no assertion criteria provided |
| 2430245 | NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp) | KCNA6 | Likely pathogenic | criteria provided, single submitter |
| 1804041 | NM_144643.4(SCLT1):c.2060dup (p.Asn687fs) | SCLT1 | Likely pathogenic | criteria provided, single submitter |
| 523302 | GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723) | CDH10 | 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 |
| 523487 | NM_005802.5(TOPORS):c.2666A>G (p.His889Arg) | TOPORS | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 7 · Orphanet: 8 · 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 |
|---|---|---|---|---|
| MYRF | Strong | Autosomal dominant | hyperopia | 7 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| MYRF | Orphanet:647811 | Cardiac-urogenital syndrome |
| SLC9A6 | Orphanet:85278 | Christianson syndrome |
| ANKRD11 | Orphanet:2332 | KBG syndrome |
| ANKRD11 | Orphanet:261250 | 16q24.3 microdeletion syndrome |
| TOPORS | Orphanet:2754 | Orofaciodigital syndrome type 6 |
| TOPORS | Orphanet:791 | Retinitis pigmentosa |
| SCLT1 | Orphanet:110 | Bardet-Biedl 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 |
|---|---|---|---|---|---|
| MYRF | HGNC:1181 | ENSG00000124920 | Q9Y2G1 | Myelin regulatory factor | gencc |
| SLC9A6 | HGNC:11079 | ENSG00000198689 | Q92581 | Sodium/hydrogen exchanger 6 | clinvar |
| CDH10 | HGNC:1749 | ENSG00000040731 | Q9Y6N8 | Cadherin-10 | clinvar |
| DMBX1 | HGNC:19026 | ENSG00000197587 | Q8NFW5 | Diencephalon/mesencephalon homeobox protein 1 | clinvar |
| ANKRD11 | HGNC:21316 | ENSG00000167522 | Q6UB99 | Ankyrin repeat domain-containing protein 11 | clinvar |
| TOPORS | HGNC:21653 | ENSG00000197579 | Q9NS56 | E3 ubiquitin-protein ligase Topors | clinvar |
| SCLT1 | HGNC:26406 | ENSG00000151466 | Q96NL6 | Sodium channel and clathrin linker 1 | clinvar |
| RNF182 | HGNC:28522 | ENSG00000180537 | Q8N6D2 | E3 ubiquitin-protein ligase RNF182 | clinvar |
| KCNA6 | HGNC:6225 | ENSG00000151079 | P17658 | Potassium voltage-gated channel subfamily A member 6 | 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) |
|---|---|---|
| MYRF | Myelin regulatory factor | Constitutes a precursor of the transcription factor. |
| SLC9A6 | Sodium/hydrogen exchanger 6 | Endosomal Na(+), K(+)/H(+) antiporter. |
| CDH10 | Cadherin-10 | Cadherins are calcium-dependent cell adhesion proteins. |
| DMBX1 | Diencephalon/mesencephalon homeobox protein 1 | Functions as a transcriptional repressor. |
| ANKRD11 | Ankyrin repeat domain-containing protein 11 | Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells. |
| TOPORS | E3 ubiquitin-protein ligase Topors | Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. |
| SCLT1 | Sodium channel and clathrin linker 1 | Adapter protein that links SCN10A to clathrin. |
| 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. |
| KCNA6 | Potassium voltage-gated channel subfamily A member 6 | Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. |
| 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: 1 · Difficult: 5 · Unknown: 4 · Druggable fraction: 0.1
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 |
|---|---|---|---|
| Transcription factor | 4 | 3.3× | 0.099 |
| Ion channel | 1 | 11.2× | 0.172 |
| Scaffold/PPI | 1 | 1.7× | 0.599 |
| Other/Unknown | 4 | 0.7× | 0.907 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| MYRF | Transcription factor | no | p53-like_TF_DNA-bd_sf, NDT80_DNA-bd_dom, MYRF_C2 | |
| SLC9A6 | Other/Unknown | no | NHE-6/7/9, NaH_exchanger, Cation/H_exchanger_TM | |
| CDH10 | Other/Unknown | no | Cadherin_Y-type_LIR, Cadherin-like_dom, Cadherin-like_sf | |
| DMBX1 | Transcription factor | no | HD, OAR_dom, Homeodomain-like_sf | |
| ANKRD11 | Scaffold/PPI | no | Ankyrin_rpt, Ankyrin_rpt-contain_sf, ANKRD11 | |
| TOPORS | Transcription factor | no | Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS | |
| SCLT1 | Other/Unknown | no | SCLT1 | |
| RNF182 | Transcription factor | no | Znf_RING, Znf_RING/FYVE/PHD, Znf_RING_CS | |
| KCNA6 | Ion channel | yes | BTB/POZ_dom, T1-type_BTB, K_chnl_volt-dep_Kv | |
| MCM7 | Other/Unknown | no | MCM_dom, AAA+_ATPase, MCM7 |
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) | 10 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| middle temporal gyrus | 2 |
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| cortical plate | 2 |
| ganglionic eminence | 2 |
| C1 segment of cervical spinal cord | 1 |
| inferior vagus X ganglion | 1 |
| middle frontal gyrus | 1 |
| lateral nuclear group of thalamus | 1 |
| pons | 1 |
| Brodmann (1909) area 23 | 1 |
| Brodmann (1909) area 46 | 1 |
| primordial germ cell in gonad | 1 |
| upper arm skin | 1 |
| stromal cell of endometrium | 1 |
| sural nerve | 1 |
| tendon of biceps brachii | 1 |
| calcaneal tendon | 1 |
| secondary oocyte | 1 |
| sperm | 1 |
| buccal mucosa cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MYRF | 223 | ubiquitous | marker | middle frontal gyrus, C1 segment of cervical spinal cord, inferior vagus X ganglion |
| SLC9A6 | 286 | ubiquitous | yes | lateral nuclear group of thalamus, middle temporal gyrus, pons |
| CDH10 | 172 | broad | marker | Brodmann (1909) area 23, middle temporal gyrus, Brodmann (1909) area 46 |
| DMBX1 | 33 | broad | yes | male germ line stem cell (sensu Vertebrata) in testis, upper arm skin, primordial germ cell in gonad |
| ANKRD11 | 278 | ubiquitous | marker | tendon of biceps brachii, sural nerve, stromal cell of endometrium |
| TOPORS | 285 | ubiquitous | marker | secondary oocyte, calcaneal tendon, sperm |
| SCLT1 | 217 | ubiquitous | marker | buccal mucosa cell, monocyte, leukocyte |
| RNF182 | 192 | broad | yes | endothelial cell, cortical plate, ganglionic eminence |
| KCNA6 | 123 | tissue_specific | yes | cortical plate, male germ line stem cell (sensu Vertebrata) in testis, prefrontal cortex |
| 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 |
| ANKRD11 | 2,384 |
| SLC9A6 | 1,867 |
| TOPORS | 1,552 |
| SCLT1 | 1,478 |
| KCNA6 | 1,399 |
| CDH10 | 1,322 |
| MYRF | 979 |
| DMBX1 | 678 |
| RNF182 | 508 |
Structural data
PDB: 2 · AlphaFold-only: 8 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MCM7 | P33993 | 28 |
| MYRF | Q9Y2G1 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| SCLT1 | Q96NL6 | 82.44 |
| CDH10 | Q9Y6N8 | 78.29 |
| KCNA6 | P17658 | 75.42 |
| RNF182 | Q8N6D2 | 70.67 |
| SLC9A6 | Q92581 | 70.61 |
| DMBX1 | Q8NFW5 | 63.71 |
| TOPORS | Q9NS56 | 49.39 |
| ANKRD11 | Q6UB99 | 39.44 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 42. Enrichment computed across 10 evidence-associated genes (7 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 7 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 | 1631.4× | 0.026 | SLC9A6 |
| Sodium/Proton exchangers | 1 | 181.3× | 0.067 | SLC9A6 |
| DNA strand elongation | 1 | 163.1× | 0.067 | MCM7 |
| SUMOylation of immune response proteins | 1 | 135.9× | 0.067 | TOPORS |
| Unwinding of DNA | 1 | 125.5× | 0.067 | MCM7 |
| SUMOylation of SUMOylation proteins | 1 | 46.6× | 0.073 | TOPORS |
| Activation of the pre-replicative complex | 1 | 46.6× | 0.073 | MCM7 |
| DNA Replication Pre-Initiation | 1 | 45.3× | 0.073 | MCM7 |
| Activation of ATR in response to replication stress | 1 | 42.9× | 0.073 | MCM7 |
| Switching of origins to a post-replicative state | 1 | 42.9× | 0.073 | MCM7 |
| Synthesis of DNA | 1 | 42.9× | 0.073 | MCM7 |
| Adherens junctions interactions | 1 | 35.5× | 0.073 | CDH10 |
| Cell-cell junction organization | 1 | 35.5× | 0.073 | CDH10 |
| Voltage gated Potassium channels | 1 | 34.7× | 0.073 | KCNA6 |
| SUMOylation of transcription cofactors | 1 | 34.7× | 0.073 | TOPORS |
| DNA Replication | 1 | 34.0× | 0.073 | MCM7 |
| G1/S Transition | 1 | 33.3× | 0.073 | MCM7 |
| SLC transporter disorders | 1 | 29.1× | 0.074 | SLC9A6 |
| Cell junction organization | 1 | 26.7× | 0.074 | CDH10 |
| Mitotic G1 phase and G1/S transition | 1 | 26.3× | 0.074 | MCM7 |
| S Phase | 1 | 25.9× | 0.074 | MCM7 |
| Orc1 removal from chromatin | 1 | 25.5× | 0.074 | MCM7 |
| Disorders of transmembrane transporters | 1 | 19.9× | 0.079 | SLC9A6 |
| Assembly of the pre-replicative complex | 1 | 19.9× | 0.079 | MCM7 |
| Cell-Cell communication | 1 | 19.7× | 0.079 | CDH10 |
| Potassium Channels | 1 | 19.2× | 0.079 | KCNA6 |
| G2/M Checkpoints | 1 | 19.2× | 0.079 | MCM7 |
| R-HSA-425393 | 1 | 18.5× | 0.079 | SLC9A6 |
| Anchoring of the basal body to the plasma membrane | 1 | 16.1× | 0.087 | SCLT1 |
| Cilium Assembly | 1 | 15.5× | 0.088 | SCLT1 |
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 |
|---|---|---|---|---|
| central nervous system myelin maintenance | 1 | 280.9× | 0.045 | MYRF |
| regulation of phosphorylation | 1 | 280.9× | 0.045 | MCM7 |
| clustering of voltage-gated sodium channels | 1 | 240.7× | 0.045 | SCLT1 |
| DNA strand elongation involved in DNA replication | 1 | 187.2× | 0.045 | MCM7 |
| adult feeding behavior | 1 | 168.5× | 0.045 | DMBX1 |
| dendrite extension | 1 | 168.5× | 0.045 | SLC9A6 |
| double-strand break repair via break-induced replication | 1 | 129.6× | 0.045 | MCM7 |
| maintenance of protein location in nucleus | 1 | 112.3× | 0.045 | TOPORS |
| regulation of DNA-templated DNA replication initiation | 1 | 105.3× | 0.045 | MCM7 |
| photoreceptor cell outer segment organization | 1 | 105.3× | 0.045 | TOPORS |
| central nervous system myelination | 1 | 99.1× | 0.045 | MYRF |
| positive regulation of myelination | 1 | 76.6× | 0.045 | MYRF |
| response to immobilization stress | 1 | 73.3× | 0.045 | MYRF |
| developmental growth | 1 | 73.3× | 0.045 | DMBX1 |
| positive regulation of oligodendrocyte differentiation | 1 | 67.4× | 0.045 | MYRF |
| retina layer formation | 1 | 64.8× | 0.045 | TOPORS |
| protein autoprocessing | 1 | 64.8× | 0.045 | MYRF |
| DNA replication initiation | 1 | 62.4× | 0.045 | MCM7 |
| sodium ion import across plasma membrane | 1 | 62.4× | 0.045 | SLC9A6 |
| oligodendrocyte development | 1 | 60.2× | 0.045 | MYRF |
| regulation of intracellular pH | 1 | 60.2× | 0.045 | SLC9A6 |
| response to cocaine | 1 | 58.1× | 0.045 | MYRF |
| synaptic membrane adhesion | 1 | 58.1× | 0.045 | CDH10 |
| adherens junction organization | 1 | 51.1× | 0.045 | CDH10 |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 1 | 49.6× | 0.045 | TOPORS |
| axon extension | 1 | 49.6× | 0.045 | SLC9A6 |
| skeletal system morphogenesis | 1 | 49.6× | 0.045 | ANKRD11 |
| face morphogenesis | 1 | 49.6× | 0.045 | ANKRD11 |
| calcium-dependent cell-cell adhesion | 1 | 48.1× | 0.045 | CDH10 |
| potassium ion transmembrane transport | 2 | 27.2× | 0.045 | SLC9A6, KCNA6 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 10
Druggability breadth: 2 of 10 evidence-associated genes (20%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| MYRF | 0 | 0 |
| SLC9A6 | 0 | 0 |
| CDH10 | 0 | 0 |
| DMBX1 | 0 | 0 |
| ANKRD11 | 0 | 0 |
| TOPORS | 0 | 0 |
| SCLT1 | 0 | 0 |
| RNF182 | 0 | 0 |
| KCNA6 | 0 | 0 |
| MCM7 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| KCNA6 | 29 | Binding:24, Functional:3, Toxicity:1, ADMET:1 |
| MCM7 | 9 | Binding:9 |
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
0 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.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 1 | KCNA6 |
| E | Difficult family or no structure, no drug | 9 | MYRF, SLC9A6, CDH10, DMBX1, ANKRD11, TOPORS, SCLT1, RNF182, MCM7 |
Undrugged target profiles
10 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| MYRF | 0 | — |
| SLC9A6 | 0 | — |
| CDH10 | 0 | — |
| DMBX1 | 0 | — |
| ANKRD11 | 0 | — |
| TOPORS | 0 | — |
| SCLT1 | 0 | — |
| RNF182 | 0 | — |
| KCNA6 | 29 | — |
| MCM7 | 9 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 122.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 98 |
| PHASE4 | 10 |
| PHASE3 | 6 |
| PHASE1/PHASE2 | 5 |
| PHASE2 | 1 |
| PHASE1 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00347204 | PHASE4 | COMPLETED | Comparison of Acular LS Versus Nevanac for Pain Control in Eyes Undergoing PRK |
| NCT00455455 | PHASE4 | COMPLETED | Corneal and Conjunctival Sensitivity and Staining Study |
| NCT00937105 | PHASE4 | COMPLETED | Daily Wear Corneal Infiltrative Event Study |
| NCT01387360 | PHASE4 | COMPLETED | Presbyopic Supracor Treatment for Near Myopic/Hyperopic Pseudophakic Eyes |
| NCT01977807 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK |
| NCT02071576 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK |
| NCT02112968 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia |
| NCT03881670 | PHASE4 | COMPLETED | On-Eye Optical Quality of Lotrafilcon B Lenses Over 12 Hours |
| 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) |
| NCT00520689 | PHASE3 | COMPLETED | Multipurpose Disinfecting Solution Compatibility With a Silicone Hydrogel Contact Lens |
| NCT00910403 | PHASE3 | COMPLETED | Multicenter Evaluation of Safety and Effectiveness of Presbyopic LASIK for Hyperopes |
| NCT00928122 | PHASE3 | UNKNOWN | Intrastromal Correction of Ametropia by a Femtosecond Laser |
| NCT01028378 | PHASE3 | COMPLETED | Safety and Efficacy Study of Topography-Guided LASIK to Treat Myopia and Hyperopia |
| NCT01322919 | PHASE3 | COMPLETED | Safety and Efficacy Study to Evaluate the Treatment of Both Near and Distance Vision in a Simultaneous Laser Procedure |
| NCT05247658 | PHASE3 | TERMINATED | Use of a Disk of Amniotic Membrane (Visio-AMTRIX) in Postoperative Care After PKR |
| NCT00574717 | PHASE1/PHASE2 | TERMINATED | Enhancement of Emmetropization in Hyperopic Infants |
| NCT01024855 | PHASE1/PHASE2 | COMPLETED | Comparative Evaluation of Corneal Staining With Balafilcon A Lenses and Two Multi-Purpose Solutions |
| NCT01893359 | PHASE1/PHASE2 | TERMINATED | Safety and Efficacy of Corneal Collagen Cross-linking Following LASIK for Treatment of Hyperopia and Hyperopic Astigmatism |
| NCT02148016 | PHASE1/PHASE2 | UNKNOWN | Corneal Epithelium Repair and Therapy Using Autologous Limbal Stem Cell Transplantation |
| NCT04883996 | PHASE1/PHASE2 | UNKNOWN | A Phase 1/2 Crossover Study to Assess EXP039 for Myopia or Hyperopia |
| NCT05477875 | PHASE2 | COMPLETED | Cannabinoid vs Opioid for Photorefractive Keratectomy Pain Control |
| NCT01556893 | PHASE1 | COMPLETED | Creating LASIK Flaps With the LenSx Femtosecond Laser |
| NCT06742541 | EARLY_PHASE1 | COMPLETED | ICL and LASIK for Hyperopic Astigmatism |
| NCT04616144 | Not specified | ACTIVE_NOT_RECRUITING | Fresh Corneal Lenticule Implantation in Hyperopic Patients With High Astigmatism |
| NCT04632784 | Not specified | ACTIVE_NOT_RECRUITING | Clinical Trial With Artiflex Presbyopic (Artiplus) |
| NCT04692012 | Not specified | ACTIVE_NOT_RECRUITING | Treatment of Residual Hypermetropic Refraction on Pseudophakic Patients Using Allogenic Fresh Myopic Lenticule |
| NCT04712318 | Not specified | ENROLLING_BY_INVITATION | Treatment of Residual Refraction Errors 6 Months After Trifocal IOL Implantation With Relex-Smile |
| NCT05264623 | Not specified | ACTIVE_NOT_RECRUITING | Safety and Effectiveness of the TENEO 317 Model 2 (1.28 US) Excimer Laser for Laser In Situ Keratomileusis (LASIK) Surgery to Treat Hyperopia With or Without Astigmatism |
| NCT05689567 | Not specified | ACTIVE_NOT_RECRUITING | Focus-out Glasses on Emmetropization in Chinese Children |
| NCT06484257 | Not specified | ACTIVE_NOT_RECRUITING | Comparison Between Myopia Versus Hypermetropia With Progressive Addition Lenses in Computer Users |
| NCT06597292 | Not specified | NOT_YET_RECRUITING | The VIS Opti-K Low Vision Aid Device Provides Vision Improvement. |
| NCT07133737 | Not specified | ENROLLING_BY_INVITATION | 5 Year Follow up of SMILE® Procedure for the Correction of Hyperopia |
| NCT07135570 | Not specified | RECRUITING | My Eyes, My Light: Amar Chokh, Amar Alo |
| NCT07142915 | Not specified | NOT_YET_RECRUITING | Effect of Light-Blocking Lenses on Pediatric Hyperopia |
| NCT07142928 | Not specified | NOT_YET_RECRUITING | Effect of Light-Blocking Lenses on Hyperopic Anisometropic Children |
| NCT07240480 | Not specified | NOT_YET_RECRUITING | Assessing the Turkish DDIVAT for Visual Acuity Measurement |
| NCT07401511 | Not specified | NOT_YET_RECRUITING | Efficacy of S.T.O.P®KIT in Retarding Axial Length Growth in Children With Low Hyperopia |
| NCT00348205 | Not specified | COMPLETED | A Study to Evaluate the Safety and Effectiveness of the Technols 217z Zyoptix System for Hyperopia |
| NCT00363623 | Not specified | COMPLETED | Comparison of Contact Lens Maintenance Systems for Silicone Hydrogel Lenses |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CODEINE | 4 | 1 |
| LEVOFLOXACIN ANHYDROUS | 4 | 1 |
| NEPAFENAC | 4 | 1 |
| PROPARACAINE | 4 | 1 |
| LOTRAFILCON B | 3 | 3 |
| ENFILCON A | 3 | 1 |
| ETAFILCON A | 3 | 1 |
| OCUFILCON D | 3 | 1 |
| SENOFILCON A | 3 | 1 |
Related Atlas pages
- Cohort genes: MYRF, SLC9A6, CDH10, DMBX1, ANKRD11, TOPORS, SCLT1, RNF182, KCNA6, MCM7
- Drugs: Codeine, Levofloxacin, Nepafenac, Proparacaine, Lotrafilcon B, Enfilcon A, Etafilcon A, Ocufilcon D, Senofilcon A