Protein Dossier — OCIAD1 (OCIA domain-containing protein 1)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Myocardial infarction |
-0.121 |
0.0348 |
4.76e-04 |
Wald ratio |
1 |
trans |
NA |
| Coronary heart disease |
-0.105 |
0.0315 |
8.64e-04 |
Wald ratio |
1 |
trans |
NA |
| Amyotrophic lateral sclerosis |
-0.186 |
0.0571 |
0.00113 |
Wald ratio |
1 |
trans |
NA |
| Eczema |
0.168 |
0.0558 |
0.00266 |
Wald ratio |
1 |
trans |
NA |
| Years of schooling |
-0.0372 |
0.0124 |
0.0027 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation |
0.134 |
0.0457 |
0.00341 |
Wald ratio |
1 |
trans |
NA |
| Chronic kidney disease |
0.136 |
0.0496 |
0.00596 |
Wald ratio |
1 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.0167 |
0.00614 |
0.00649 |
Wald ratio |
1 |
trans |
NA |
| LDL cholesterol |
-0.0468 |
0.0174 |
0.00701 |
Wald ratio |
1 |
trans |
NA |
| Sodium in urine |
0.0186 |
0.00736 |
0.0115 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.155 |
0.0622 |
0.0127 |
Wald ratio |
1 |
trans |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.0237 |
0.00968 |
0.0143 |
Wald ratio |
1 |
trans |
NA |
| …and 100 more outcomes (see JSON) |
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|
|
|
|
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3635_76_4 |
OCAD1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
14 association rows across 12 traits (12 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| COX5B protein levels |
1e-66 |
rs112327139 |
1 |
GCST90468834 |
no MR -> candidate analysis |
| Age at menopause |
7e-14 |
rs7665209 |
1 |
GCST007079 |
MR: beta=0.062, p=0.317 (trans) |
| ICAM4 protein levels |
5e-13 |
rs201178302 |
1 |
GCST90469501 |
no MR -> candidate analysis |
| Pulse pressure |
7e-13 |
rs13141838 |
1 |
GCST90310296 |
no MR -> candidate analysis |
| Type 2 diabetes |
2e-12 |
rs62310934 |
2 |
GCST90492734 |
MR: beta=-0.0614, p=0.187 (trans) |
| Mean corpuscular hemoglobin |
1e-11 |
rs7687992 |
1 |
GCST007068 |
no MR -> candidate analysis |
| Systolic blood pressure |
5e-11 |
rs13141838 |
2 |
GCST90310294 |
MR: beta=0.0135, p=0.0773 (trans) |
| Medication use for hypertension (number of purchases) |
4e-9 |
rs62310934 |
1 |
GCST90250905 |
no MR -> candidate analysis |
| Breast cancer |
6e-9 |
rs4695407 |
1 |
GCST90308751 |
MR: beta=0.0549, p=0.0269 (trans) |
| Chronic sputum production |
6e-9 |
rs79998532 |
1 |
GCST90269902 |
no MR -> candidate analysis |
| COVID-19 hospitalization or rheumatoid arthritis (MTAG) |
3e-8 |
rs2354938 |
1 |
GCST90255368 |
no MR -> candidate analysis |
| Type 2 diabetes (PheCode 250.2) |
1e-6 |
rs2354944 |
1 |
GCST90651113 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 129 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| breast carcinoma |
0.141 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.123 |
— |
common-variant locus |
no MR -> candidate analysis |
| migraine disorder |
0.101 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.07 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 4 rows above, 4 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (OCIA domain-containing protein 1) |
| gnomAD constraint |
pLI=4.7e-08, LOEUF=1.02 — LoF-tolerant |
| GWAS Catalog |
48 unique SNPs / 96 rows |
| ClinVar |
77 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 129 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘OCIAD1’ and resolved to ‘OCIA domain-containing protein 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 77 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 12 of 12 traits by best p-value, aggregated from 14 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/Q9NX40 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000109180/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6067371/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/OCIAD1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/OCIAD1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=OCIAD1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/OCIAD1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:08:49 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none