MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Crohn’s disease | 0.0872 | 0.0119 | 1.97e-13 | Wald ratio | 1 | cis | 0.466 |
| Inflammatory bowel disease | 0.0701 | 0.0098 | 8.75e-13 | Wald ratio | 1 | cis | 0.645 |
| Diastolic blood pressure automated reading | 0.0133 | 0.00235 | 1.56e-08 | Wald ratio | 1 | cis | 0.952 |
| Ulcerative colitis | 0.0528 | 0.0123 | 1.70e-05 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | 0.00826 | 0.00235 | 4.43e-04 | Wald ratio | 1 | cis | NA |
| IgA nephropathy | 0.244 | 0.0751 | 0.00119 | Wald ratio | 1 | cis | NA |
| Fasting glucose | -0.0095 | 0.00295 | 0.00126 | Wald ratio | 1 | cis | NA |
| Juvenile idiopathic arthritis | 0.16 | 0.0512 | 0.0018 | Wald ratio | 1 | cis | NA |
| Multiple sclerosis | -0.0464 | 0.0162 | 0.00413 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.00551 | 0.00199 | 0.00558 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Ankle | 0.0511 | 0.0186 | 0.00608 | Wald ratio | 1 | cis | NA |
| Schizophrenia | -0.0265 | 0.0102 | 0.00913 | Wald ratio | 1 | cis | NA |
| …and 108 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
150 association rows across 73 traits (134 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 2 levels | 5e-4961 | rs2927608 | 3 | GCST90247487 | no MR -> candidate analysis |
| Endoplasmic reticulum aminopeptidase 2 levels (ERAP2.8960.3. | 7e-858 | rs2927608 | 4 | GCST90241043 | no MR -> candidate analysis |
| ERAP2 protein levels | 1e-305 | rs2910686 | 10 | GCST90453311 | no MR -> candidate analysis |
| HLA E protein levels | 2e-232 | rs2927608 | 1 | GCST90469459 | no MR -> candidate analysis |
| Endoplasmic reticulum aminopeptidase 2 level in Chronic kidn | 7e-161 | rs2927608 | 1 | GCST90239121 | no MR -> candidate analysis |
| Endoplasmic reticulum aminopeptidase 1 levels (ERAP1.4964.67 | 5e-137 | rs73774722 | 1 | GCST90241042 | no MR -> candidate analysis |
| LAMB1 protein levels | 2e-129 | rs2927608 | 1 | GCST90469732 | no MR -> candidate analysis |
| ESAM/TGFB1 protein level ratio | 1e-64 | rs2549794 | 1 | GCST90314718 | no MR -> candidate analysis |
| ERAP1 protein levels | 1e-55 | rs35136 | 5 | GCST90453391 | no MR -> candidate analysis |
| Circulating TGFB1 levels (id: OID00480_OID20621) | 8e-52 | rs251343 | 1 | GCST90859840 | no MR -> candidate analysis |
| TGFB1 protein levels | 4e-49 | rs3985004 | 1 | GCST90470843 | no MR -> candidate analysis |
| Circulating TGFB1 levels (id: OID00785_OID20621) | 1e-44 | rs251343 | 1 | GCST90860117 | no MR -> candidate analysis |
| …and 61 more traits (see JSON) |
Top diseases by Open Targets association (of 218 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 |
|---|---|---|---|---|
| inflammatory bowel disease | 0.619 | — | common-variant locus | MR: beta=0.0701, p=8.75e-13 (cis) |
| hypertensive disorder | 0.595 | — | common-variant locus | no MR -> candidate analysis |
| Crohn disease | 0.577 | — | common-variant locus | no MR -> candidate analysis |
| venous thromboembolism | 0.515 | — | common-variant locus | no MR -> candidate analysis |
| juvenile idiopathic arthritis | 0.445 | — | common-variant locus | MR: beta=0.16, p=0.0018 (cis) |
| psoriatic arthritis | 0.445 | — | common-variant locus | no MR -> candidate analysis |
| psoriasis | 0.436 | — | common-variant locus | MR: beta=-0.0296, p=0.183 (cis) |
| attention deficit-hyperactivity disorder | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| substance abuse | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| lichen planus | 0.417 | — | common-variant locus | no MR -> candidate analysis |
| birdshot chorioretinopathy | 0.373 | — | common-variant locus | no MR -> candidate analysis |
| pulmonary vascular congestion | 0.385 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.379 | — | common-variant locus | no MR -> candidate analysis |
| response to xenobiotic stimulus | 0.375 | — | common-variant locus | no MR -> candidate analysis |
| skin neoplasm | 0.283 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 12 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (Endoplasmic reticulum aminopeptidase 2) |
| gnomAD constraint | pLI=6.6e-43, LOEUF=1.24 — LoF-tolerant |
| GWAS Catalog | 133 unique SNPs / 331 rows |
| ClinVar | 181 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 218 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 ‘ERAP2’ and resolved to ‘Endoplasmic reticulum aminopeptidase 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 181 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 73 traits by best p-value, aggregated from 150 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/Q6P179 — 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/ENSG00000164308/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5043/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ERAP2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ERAP2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ERAP2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ERAP2 — GWAS Catalog search API (live; release not exposed)