Conjunctival disorder
diseaseOn this page
Also known as conjunctiva diseaseconjunctiva disease or disorderconjunctival diseasedisease of conjunctivadisease or disorder of conjunctivadisorder of conjunctiva
Summary
Conjunctival disorder (MONDO:0006170) is a disease (an umbrella term covering 8 Mondo subtypes) with 10 GWAS associations across 21 studies and 6 clinical trials. A subtype of eye adnexa disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 8 Mondo subtypes
- GWAS associations: 10
- Clinical trials: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | conjunctival disorder |
| Mondo ID | MONDO:0006170 |
| EFO | EFO:1000203 |
| DOID | DOID:4251 |
| ICD-10-CM | H10-H11 |
| NCIT | C27605 |
| UMLS | C0009759 |
| MedGen | 3207 |
| Anatomy (UBERON) | UBERON:0001811 |
| Is cancer (heuristic) | no |
Also known as: conjunctiva disease · conjunctiva disease or disorder · conjunctival disease · conjunctival disorder · disease of conjunctiva · disease or disorder of conjunctiva · disorder of conjunctiva
Data availability: 10 GWAS associations (21 studies).
Disease family
This is a subtype of eye adnexa disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye adnexa disorder › conjunctival disorder
Related subtypes (5): lacrimal apparatus disorder, eyelid disorder, myopathy of extraocular muscle, disease of orbital part of eye adnexa, ocular adnexal lymphoma
Subtypes (8): conjunctival degeneration, conjunctival vascular disorder, conjunctival deposit, ocular hyperemia, conjunctivochalasis, conjunctivitis, conjunctival tumor, ligneous conjunctivitis
Genetics & variants
GWAS landscape
10 GWAS associations across 21 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr13:30243879 | 6e-09 | C | 2.57 | |
| chr1:236424154 | 2e-08 | CT | 0.24 | |
| chr13:103609485 | 2e-08 | T | 2.23 | |
| chr11:22498564 | 3e-08 | C | 0.33 | |
| chr7:103748041 | 3e-08 | T | 0.22 | |
| chrX:36234127 | 3e-08 | T | 2.63 | |
| rs3823836 | 4e-08 | ICA1 | ? | |
| chr10:24606441 | 4e-08 | A | 1.44 | |
| chrX:12745588 | 4e-08 | T | 1.2 | |
| chrX:86021275 | 5e-08 | C | 0.74 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473390 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 28,957 | 429,483 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667786 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 28,957 | 429,483 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90477745 | Verma A | 2024 | 9,842 | 423,254 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473395 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 8,112 | 450,328 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667926 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 8,112 | 450,328 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90477744 | Verma A | 2024 | 4,008 | 110,359 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481118 | Verma A | 2024 | 4,008 | 110,359 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477743 | Verma A | 2024 | 2,676 | 53,832 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90079881 | Backman JD | 2021 | 1,714 | 380,389 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083867 | Backman JD | 2021 | 1,714 | 380,389 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 10 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 9 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 9 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr13:30243879 | 6e-09 | Tier 4: intronic/intergenic | ||||||
| chr1:236424154 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr13:103609485 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr11:22498564 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chr7:103748041 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chrX:36234127 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| rs3823836 | 7 | 8152413 | T>C | 0.05 | intron_variant | ICA1 | 4e-08 | Tier 4: intronic/intergenic |
| chr10:24606441 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| chrX:12745588 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| chrX:86021275 | 5e-08 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 6.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 4 |
| PHASE3 | 1 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03436576 | PHASE3 | UNKNOWN | Efficacy of Two Concentrations of Autologous Serum for the Treatment of Severe Dry Eye |
| NCT01250353 | PHASE2 | COMPLETED | The Use of Natural Latex Biomembrane in Ocular Surface Reconstruction |
| NCT03358979 | Not specified | RECRUITING | Three-dimensional Analysis of EMMPRIN on Conjunctival Epithelial Cells Surface in Severe Dry Eye Syndrome (ALTESSE) |
| NCT04066998 | Not specified | UNKNOWN | Cytokine Profile of Conjunctivitis, Performed Through Tears Analysis Among Patients Treated With Dupilumab |
| NCT04340518 | Not specified | COMPLETED | Conjunctival Rebound After Scleral Lens Wear |
| NCT04421300 | Not specified | COMPLETED | A Randomized Study of Smile Exercise for Dry Eye |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.