Protein Dossier — AZU1 (Azurocidin)
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 |
| Heel bone mineral density (BMD) T-score automated |
0.101 |
0.016 |
2.28e-10 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
0.248 |
0.0813 |
0.00229 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd |
0.404 |
0.145 |
0.0054 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
-0.13 |
0.0472 |
0.006 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D25 Leiomyoma of uterus |
-0.464 |
0.18 |
0.0102 |
Wald ratio |
1 |
cis |
NA |
| Hearing difficulty or problems: Yes |
-0.0559 |
0.0226 |
0.0133 |
Wald ratio |
1 |
cis |
NA |
| Fasting glucose |
0.0509 |
0.0218 |
0.0193 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
-0.0268 |
0.0118 |
0.0238 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine |
-0.259 |
0.114 |
0.0238 |
Wald ratio |
1 |
cis |
NA |
| Eczema |
-0.215 |
0.101 |
0.0337 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: ankylosing spondylitis |
0.359 |
0.169 |
0.0338 |
Wald ratio |
1 |
cis |
NA |
| Paget’s disease |
0.665 |
0.314 |
0.0342 |
Wald ratio |
1 |
cis |
NA |
| …and 95 more outcomes (see JSON) |
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|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2751_16_2 |
Azurocidin |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
62 association rows across 38 traits (62 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 |
| MPO/PRTN3 protein level ratio |
3e-939 |
rs12052108 |
1 |
GCST90315492 |
no MR -> candidate analysis |
| LCN2/PRTN3 protein level ratio |
7e-873 |
rs12052108 |
1 |
GCST90315307 |
no MR -> candidate analysis |
| Circulating PRTN3 levels |
1e-838 |
rs61242663 |
2 |
GCST90859963 |
no MR -> candidate analysis |
| Myeloblastin levels |
1e-243 |
rs2074639 |
4 |
GCST90248550 |
no MR -> candidate analysis |
| Circulating AZU1 levels |
4e-226 |
rs138032111 |
5 |
GCST90859945 |
no MR -> candidate analysis |
| AZU1 protein levels |
2e-204 |
rs138032111 |
2 |
GCST90468408 |
no MR -> candidate analysis |
| Myeloblastin levels (PRTN3.3514.49.2) |
8e-110 |
rs10425544 |
3 |
GCST90241987 |
no MR -> candidate analysis |
| Neutrophil forward scatter |
2e-82 |
rs7254911 |
1 |
GCST90281224 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
2e-54 |
rs76427287 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Neutrophil side scatter distribution width |
6e-54 |
rs138303849 |
1 |
GCST90281225 |
no MR -> candidate analysis |
| Neutrophil side scatter |
6e-52 |
rs76427287 |
1 |
GCST90281222 |
no MR -> candidate analysis |
| Neutrophil side fluorescence |
1e-45 |
rs7254911 |
1 |
GCST90281223 |
no MR -> candidate analysis |
| …and 26 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 259 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 |
| low tension glaucoma |
0.278 |
— |
common-variant locus |
no MR -> candidate analysis |
| anti-neutrophil antibody associated vasculitis |
0.073 |
— |
common-variant locus |
no MR -> candidate analysis |
| open-angle glaucoma |
0.042 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of refraction |
0.035 |
— |
common-variant locus |
no MR -> candidate analysis |
| gestational diabetes |
0.035 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 5 rows above, 5 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=7.5e-09, LOEUF=1.7 — LoF-tolerant |
| GWAS Catalog |
126 unique SNPs / 304 rows |
| ClinVar |
100 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 259 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 ‘AZU1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 100 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 38 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.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P20160 — 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/ENSG00000172232/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/AZU1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AZU1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AZU1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AZU1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:13:04 · 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