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 |
|---|---|---|---|---|---|---|---|
| Platelet count | 3.36 | 0.927 | 2.87e-04 | Wald ratio | 1 | cis | NA |
| Mean platelet volume | -0.00767 | 0.0023 | 8.58e-04 | Wald ratio | 1 | cis | NA |
| Hip osteoarthritis | 0.139 | 0.0576 | 0.0157 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | 0.0166 | 0.00695 | 0.0171 | Wald ratio | 1 | cis | NA |
| Sodium in urine | 0.0106 | 0.00462 | 0.0219 | Wald ratio | 1 | cis | NA |
| Hirschsprung’s disease | -0.551 | 0.248 | 0.0264 | Wald ratio | 1 | cis | NA |
| Internalizing problems | -0.092 | 0.0422 | 0.0291 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries | -0.132 | 0.0636 | 0.0376 | Wald ratio | 1 | cis | NA |
| Chronic kidney disease | 0.0613 | 0.0307 | 0.0455 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: D25 Leiomyoma of uterus | -0.0906 | 0.0455 | 0.0465 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I84 Haemorrhoids | 0.056 | 0.0286 | 0.0499 | Wald ratio | 1 | cis | NA |
| Systemic lupus erythematosus | 0.169 | 0.0902 | 0.0606 | Wald ratio | 1 | cis | NA |
| …and 94 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
132 association rows across 112 traits (122 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 |
|---|---|---|---|---|---|
| Protein disulfide-isomerase A5 levels | 7e-1452 | rs3804749 | 1 | GCST90248919 | no MR -> candidate analysis |
| Blood protein levels | 6e-729 | rs920900 | 3 | GCST006585 | no MR -> candidate analysis |
| PDIA5 protein levels | 3e-270 | rs3804749 | 1 | GCST90470196 | no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) | 5e-129 | rs13314114 | 1 | GCST90468087 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 3e-128 | rs920900 | 2 | GCST90838669 | no MR -> candidate analysis |
| Protein disulfide-isomerase A5 levels (PDIA5.5593.11.3) | 4e-110 | rs2278668 | 1 | GCST90242438 | no MR -> candidate analysis |
| Platelet count | 2e-93 | rs3804749 | 10 | GCST90002361 | MR: beta=3.36, p=2.87e-04 (cis) |
| Platelet distribution width (UKB data field 30110) | 5e-92 | rs3792366 | 1 | GCST90468097 | no MR -> candidate analysis |
| Platelet distribution width | 4e-79 | rs3804749 | 2 | GCST90002401 | no MR -> candidate analysis |
| Mean platelet volume | 2e-72 | rs13314114 | 2 | GCST90002395 | MR: beta=-0.00767, p=8.58e-04 (cis) |
| platelet count (maximum, inv-norm transformed) | 2e-69 | rs3804749 | 2 | GCST90476296 | no MR -> candidate analysis |
| Platelet count (UKB data field 30080) | 1e-68 | rs3804749 | 1 | GCST90468095 | no MR -> candidate analysis |
| …and 100 more traits (see JSON) |
Top diseases by Open Targets association (of 127 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 |
|---|---|---|---|---|
| blood coagulation disease | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| spinal stenosis | 0.476 | — | common-variant locus | no MR -> candidate analysis |
| temporomandibular joint disorder | 0.455 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.429 | — | common-variant locus | no MR -> candidate analysis |
| cancer | 0.053 | — | common-variant locus | MR: beta=-0.132, p=0.0376 (cis) |
| Pain | 0.121 | — | common-variant locus | MR: beta=0.0194, p=0.385 (cis) |
| Alzheimer disease | 0.117 | — | common-variant locus | no MR -> candidate analysis |
| inborn disorder of amino acid metabolism | 0.103 | — | common-variant locus | no MR -> candidate analysis |
| celiac disease | 0.06 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.059 | — | common-variant locus | no MR -> candidate analysis |
| seasonal allergic rhinitis | 0.059 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.053 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.053 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.053 | — | common-variant locus | MR: beta=0.0346, p=0.421 (cis) |
| coronary artery disorder | 0.053 | — | 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 (Protein disulfide-isomerase A5) |
| gnomAD constraint | pLI=4.2e-15, LOEUF=0.93 — LoF-tolerant |
| GWAS Catalog | 56 unique SNPs / 104 rows |
| ClinVar | 137 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 127 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 ‘PDIA5’ and resolved to ‘Protein disulfide-isomerase A5’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 137 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 112 traits by best p-value, aggregated from 132 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/Q14554 — 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/ENSG00000065485/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6067135/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PDIA5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PDIA5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PDIA5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PDIA5 — GWAS Catalog search API (live; release not exposed)