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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: H25 Senile cataract | 0.281 | 0.097 | 0.00381 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | 0.189 | 0.0668 | 0.00458 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.214 | 0.0965 | 0.0263 | Wald ratio | 1 | trans | NA |
| Weight | 0.0215 | 0.00984 | 0.029 | Wald ratio | 1 | trans | NA |
| Potassium in urine | 0.0236 | 0.0113 | 0.0369 | Wald ratio | 1 | trans | NA |
| Forced vital capacity (FVC) | -0.018 | 0.00915 | 0.0497 | Wald ratio | 1 | trans | NA |
| Body mass index (BMI) | 0.0218 | 0.0111 | 0.05 | Wald ratio | 1 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0188 | 0.00965 | 0.0511 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: migraine | 0.112 | 0.0578 | 0.0538 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R35 Polyuria | 0.267 | 0.14 | 0.0562 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: B37 Candidiasis | 0.617 | 0.324 | 0.0566 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal | 0.153 | 0.0814 | 0.0593 | Wald ratio | 1 | trans | NA |
| …and 52 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
12 association rows across 10 traits (11 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 |
|---|---|---|---|---|---|
| Height | 5e-86 | rs12343516 | 1 | GCST90245848 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 2e-25 | rs10818476 | 1 | GCST90838671 | no MR -> candidate analysis |
| heart rate (HR, minimum, inv-normal transformed) | 7e-18 | rs12343516 | 2 | GCST90476341 | no MR -> candidate analysis |
| MEGF9 protein levels | 8e-16 | rs143794270 | 1 | GCST90469884 | no MR -> candidate analysis |
| Platelet count | 9e-15 | rs1060817 | 1 | GCST90002361 | MR: beta=-13.2, p=0.489 (trans) |
| heart rate (HR, mean, inv-normal transformed) | 1e-14 | rs12343516 | 1 | GCST90480666 | no MR -> candidate analysis |
| Systolic blood pressure | 6e-10 | rs10760117 | 1 | GCST006259 | MR: beta=0.0132, p=0.245 (trans) |
| Hip circumference adjusted for BMI | 2e-9 | rs62581708 | 2 | GCST90020028 | no MR -> candidate analysis |
| Height (baseline) | 1e-8 | rs150211503 | 1 | GCST90565843 | no MR -> candidate analysis |
| Autoimmune traits | 1e-7 | rs13299616 | 1 | GCST007071 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 56 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 |
|---|---|---|---|---|
| Crohn disease | 0.476 | — | common-variant locus | no MR -> candidate analysis |
| thyroid gland disorder | 0.459 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.414 | — | common-variant locus | no MR -> candidate analysis |
| atopic eczema | 0.226 | — | common-variant locus | no MR -> candidate analysis |
| benign prostatic hyperplasia | 0.186 | — | common-variant locus | no MR -> candidate analysis |
| rheumatoid arthritis | 0.055 | — | common-variant locus | no MR -> candidate analysis |
| complex regional pain syndrome | 0.044 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.042 | — | common-variant locus | no MR -> candidate analysis |
| autoimmune disease | 0.041 | — | common-variant locus | no MR -> candidate analysis |
| urethral syndrome | 0.041 | — | common-variant locus | no MR -> candidate analysis |
| neutropenia | 0.04 | — | common-variant locus | no MR -> candidate analysis |
| systemic lupus erythematosus | 0.036 | — | common-variant locus | no MR -> candidate analysis |
| bipolar disorder | 0.035 | — | common-variant locus | no MR -> candidate analysis |
| Graves disease | 0.034 | — | common-variant locus | no MR -> candidate analysis |
| ACPA-positive rheumatoid arthritis | 0.032 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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 (26S proteasome non-ATPase regulatory subunit 5) |
| gnomAD constraint | pLI=4.7e-11, LOEUF=0.999 — LoF-tolerant |
| GWAS Catalog | 85 unique SNPs / 170 rows |
| ClinVar | 109 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 56 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 ‘PSMD5’ and resolved to ‘26S proteasome non-ATPase regulatory subunit 5’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 109 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 10 of 10 traits by best p-value, aggregated from 12 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/Q16401 — 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/ENSG00000095261/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6067067/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PSMD5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PSMD5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PSMD5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PSMD5 — GWAS Catalog search API (live; release not exposed)