Protein Dossier — ERAP1 (Endoplasmic reticulum aminopeptidase 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 |
| Non-cancer illness code self-reported: ankylosing spondylitis |
0.166 |
0.0482 |
5.60e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.00799 |
0.0026 |
0.00211 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: retinal detachment |
-0.184 |
0.0631 |
0.00349 |
Wald ratio |
1 |
cis |
NA |
| Lung cancer |
0.0605 |
0.0215 |
0.00488 |
Wald ratio |
1 |
cis |
NA |
| Platelet count |
1.45 |
0.519 |
0.00519 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
-0.00667 |
0.00246 |
0.00679 |
Wald ratio |
1 |
cis |
NA |
| Glioma |
-0.144 |
0.0561 |
0.0101 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
-0.0554 |
0.0221 |
0.0124 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression |
0.122 |
0.0522 |
0.0189 |
Wald ratio |
1 |
cis |
NA |
| Amyotrophic lateral sclerosis |
0.0529 |
0.0227 |
0.0196 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.012 |
0.00518 |
0.0202 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: psoriasis |
0.0609 |
0.0266 |
0.0219 |
Wald ratio |
1 |
cis |
NA |
| …and 117 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4964_67_1 |
ARTS1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
169 association rows across 76 traits (149 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 |
| Endoplasmic reticulum aminopeptidase 1 levels |
1e-2380 |
rs467735 |
13 |
GCST90247486 |
no MR -> candidate analysis |
| Blood protein levels |
1e-375 |
rs2013717 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Endoplasmic reticulum aminopeptidase 1 levels (ERAP1.4964.67 |
1e-321 |
rs17482078 |
5 |
GCST90241042 |
no MR -> candidate analysis |
| Serum levels of protein ERAP1 |
6e-297 |
rs12517853 |
1 |
GCST90088830 |
no MR -> candidate analysis |
| FCN2 protein levels |
2e-123 |
rs11386832 |
1 |
GCST90469204 |
no MR -> candidate analysis |
| Circulating FCN2 levels |
7e-119 |
rs30376 |
1 |
GCST90860487 |
no MR -> candidate analysis |
| Endoplasmic reticulum aminopeptidase 1 level in Chronic kidn |
6e-79 |
rs30379 |
1 |
GCST90237762 |
no MR -> candidate analysis |
| PLXDC1 protein levels |
3e-75 |
rs11386832 |
1 |
GCST90470263 |
no MR -> candidate analysis |
| Circulating PLXDC1 levels |
1e-71 |
rs27044 |
2 |
GCST90860300 |
no MR -> candidate analysis |
| Protein quantitative trait loci |
7e-70 |
rs13154629 |
1 |
GCST010900 |
no MR -> candidate analysis |
| ERAP1 protein levels |
1e-55 |
rs35136 |
7 |
GCST90453391 |
no MR -> candidate analysis |
| Chronic inflammatory diseases (ankylosing spondylitis, Crohn |
6e-54 |
rs469758 |
2 |
GCST005537 |
no MR -> candidate analysis |
| …and 64 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 314 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 |
| psoriasis |
0.851 |
— |
common-variant locus |
MR: beta=0.0609, p=0.0219 (cis) |
| ankylosing spondylitis |
0.824 |
— |
common-variant locus |
MR: beta=0.166, p=5.60e-04 (cis) |
| hypertensive disorder |
0.803 |
— |
common-variant locus |
no MR -> candidate analysis |
| iridocyclitis |
0.761 |
— |
common-variant locus |
no MR -> candidate analysis |
| peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
0.657 |
— |
established (curated) |
no MR -> candidate analysis |
| anterior uveitis |
0.64 |
— |
common-variant locus |
no MR -> candidate analysis |
| Behcet disease |
0.523 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.545 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to xenobiotic stimulus |
0.541 |
— |
common-variant locus |
no MR -> candidate analysis |
| Crohn disease |
0.536 |
— |
common-variant locus |
no MR -> candidate analysis |
| Increased blood pressure |
0.533 |
— |
common-variant locus |
no MR -> candidate analysis |
| ulcerative colitis |
0.528 |
— |
common-variant locus |
MR: beta=0.032, p=0.0594 (cis) |
| sclerosing cholangitis |
0.528 |
— |
common-variant locus |
MR: beta=0.0557, p=0.17 (cis) |
| inflammatory spondylopathy |
0.515 |
— |
common-variant locus |
no MR -> candidate analysis |
| cardiovascular disorder |
0.481 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 11 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 (Endoplasmic reticulum aminopeptidase 1) |
| gnomAD constraint |
pLI=2e-24, LOEUF=0.992 — LoF-tolerant |
| GWAS Catalog |
219 unique SNPs / 463 rows |
| ClinVar |
466 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 314 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 ‘ERAP1’ and resolved to ‘Endoplasmic reticulum aminopeptidase 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 466 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 20 of 76 traits by best p-value, aggregated from 169 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/Q9NZ08 — 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/ENSG00000164307/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5939/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ERAP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ERAP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ERAP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ERAP1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:28:03 · 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