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: B37 Candidiasis | 0.959 | 0.312 | 0.00214 | Wald ratio | 1 | cis | NA |
| Weight | 0.038 | 0.0135 | 0.00482 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis | 0.422 | 0.151 | 0.00505 | Wald ratio | 1 | cis | NA |
| Pallidum volume | -34.3 | 12.3 | 0.00544 | Wald ratio | 1 | cis | NA |
| Putamen volume | -98.8 | 38.8 | 0.0108 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.238 | 0.102 | 0.0195 | Wald ratio | 1 | cis | NA |
| Nucleus accumbens volume | -16.2 | 7.17 | 0.0239 | Wald ratio | 1 | cis | NA |
| Thalamus volume | -86.4 | 40.6 | 0.0333 | Wald ratio | 1 | cis | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.108 | 0.0519 | 0.0382 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0873 | 0.043 | 0.0424 | Wald ratio | 1 | cis | NA |
| Schizophrenia | 0.139 | 0.069 | 0.0436 | Wald ratio | 1 | cis | NA |
| Femoral neck bone mineral density | -0.0977 | 0.0498 | 0.0497 | Wald ratio | 1 | cis | NA |
| …and 64 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
62 association rows across 34 traits (36 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 | 7e-129 | rs7578605 | 14 | GCST90245848 | no MR -> candidate analysis |
| Peroxidasin homolog levels | 6e-27 | rs34008669 | 1 | GCST90249196 | no MR -> candidate analysis |
| Impedance of arm left (UKB data field 23110) | 3e-19 | rs7578605 | 1 | GCST90468171 | no MR -> candidate analysis |
| Impedance of arm right (UKB data field 23109) | 1e-18 | rs7578605 | 1 | GCST90468172 | no MR -> candidate analysis |
| Serum levels of protein PXDN | 5e-17 | rs7588729 | 1 | GCST90087456 | no MR -> candidate analysis |
| Impedance of whole body (UKB data field 23106) | 6e-17 | rs7578605 | 1 | GCST90468173 | no MR -> candidate analysis |
| Height (baseline) | 7e-16 | rs6726887 | 2 | GCST90565843 | no MR -> candidate analysis |
| Acute prostatitis (PheCode 601.11) | 4e-12 | rs568184630 | 1 | GCST90480407 | no MR -> candidate analysis |
| Blood protein levels | 2e-11 | rs34008669 | 1 | GCST006585 | no MR -> candidate analysis |
| Body shape phenotype PC2 | 4e-11 | rs6726887 | 1 | GCST90832990 | no MR -> candidate analysis |
| Physical function (baseline) | 7e-11 | rs56066419 | 1 | GCST90565837 | no MR -> candidate analysis |
| Educational attainment | 2e-10 | rs10519486 | 1 | GCST90105038 | no MR -> candidate analysis |
| …and 22 more traits (see JSON) |
Top diseases by Open Targets association (of 2886 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 |
|---|---|---|---|---|
| anterior segment dysgenesis 7 | 0.856 | — | established (curated) | no MR -> candidate analysis |
| Congenital cataract microcornea with corneal opacity | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.779 | — | common-variant locus | no MR -> candidate analysis |
| hair color | 0.697 | — | common-variant locus | no MR -> candidate analysis |
| Ocular anterior segment dysgenesis | 0.654 | — | established (curated) | no MR -> candidate analysis |
| anterior segment dysgenesis | 0.654 | — | established (curated) | no MR -> candidate analysis |
| Juvenile glaucoma | 0.559 | — | established (curated) | no MR -> candidate analysis |
| prostatitis | 0.542 | — | common-variant locus | no MR -> candidate analysis |
| response to xenobiotic stimulus | 0.542 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.534 | — | common-variant locus | no MR -> candidate analysis |
| carpal tunnel syndrome | 0.527 | — | common-variant locus | no MR -> candidate analysis |
| gestational diabetes | 0.523 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.518 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| male reproductive organ cancer | 0.482 | — | 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1.3e-11, LOEUF=0.663 — LoF-tolerant |
| GWAS Catalog | 119 unique SNPs / 183 rows |
| ClinVar | 694 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 2886 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘PXDN’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 694 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 34 traits by best p-value, aggregated from 62 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/Q92626 — 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/ENSG00000130508/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PXDN — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PXDN — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PXDN%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PXDN — GWAS Catalog search API (live; release not exposed)