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 |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.0817 |
0.0336 |
0.015 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.0817 |
0.0336 |
0.015 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.097 |
0.04 |
0.0154 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.097 |
0.04 |
0.0154 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.122 |
0.0506 |
0.0156 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.122 |
0.0506 |
0.0156 |
Inverse variance weighted |
2 |
cis |
NA |
| Large vessel disease |
-0.361 |
0.16 |
0.0243 |
Wald ratio |
1 |
cis |
NA |
| Autism |
0.519 |
0.235 |
0.0269 |
Wald ratio |
1 |
trans |
NA |
| Fasting insulin |
-0.0242 |
0.0119 |
0.0416 |
Inverse variance weighted |
2 |
trans |
NA |
| Fasting insulin |
-0.0242 |
0.0119 |
0.0416 |
Inverse variance weighted |
2 |
cis |
NA |
| Systolic blood pressure automated reading |
0.0164 |
0.00838 |
0.0505 |
Inverse variance weighted |
2 |
trans |
NA |
| Systolic blood pressure automated reading |
0.0164 |
0.00838 |
0.0505 |
Inverse variance weighted |
2 |
cis |
NA |
| …and 127 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2579_17_5 |
MMP-9 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
75 association rows across 60 traits (70 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 |
| MMP9/OSM protein level ratio |
3e-346 |
rs17576 |
1 |
GCST90315468 |
no MR -> candidate analysis |
| MMP9/OLR1 protein level ratio |
5e-213 |
rs17576 |
1 |
GCST90315467 |
no MR -> candidate analysis |
| MMP9/PLTP protein level ratio |
7e-205 |
rs17576 |
1 |
GCST90315471 |
no MR -> candidate analysis |
| MMP8/MMP9 protein level ratio |
1e-162 |
rs17576 |
1 |
GCST90315463 |
no MR -> candidate analysis |
| HGF/MMP9 protein level ratio |
4e-160 |
rs17576 |
1 |
GCST90315056 |
no MR -> candidate analysis |
| CEACAM8/MMP9 protein level ratio |
4e-136 |
rs17576 |
1 |
GCST90314002 |
no MR -> candidate analysis |
| Circulating PLTP levels |
8e-135 |
rs572063876 |
4 |
GCST90860472 |
no MR -> candidate analysis |
| Circulating MMP9 levels |
5e-134 |
rs17576 |
2 |
GCST90859917 |
no MR -> candidate analysis |
| MMP9/PGLYRP1 protein level ratio |
3e-130 |
rs17576 |
1 |
GCST90315469 |
no MR -> candidate analysis |
| MMP9/PLAUR protein level ratio |
5e-125 |
rs17576 |
1 |
GCST90315470 |
no MR -> candidate analysis |
| CLEC4D/MMP9 protein level ratio |
4e-121 |
rs17576 |
1 |
GCST90314113 |
no MR -> candidate analysis |
| MMP9 protein levels |
6e-116 |
rs17576 |
2 |
GCST90469923 |
no MR -> candidate analysis |
| …and 48 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 3214 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 |
| metaphyseal anadysplasia |
0.796 |
— |
established (curated) |
no MR -> candidate analysis |
| Crohn disease |
0.626 |
— |
common-variant locus |
no MR -> candidate analysis |
| COVID-19 |
0.441 |
— |
common-variant locus |
no MR -> candidate analysis |
| age-related macular degeneration |
0.443 |
— |
common-variant locus |
no MR -> candidate analysis |
| macular degeneration |
0.425 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary artery disorder |
0.09 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 6 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 |
5 known modulators (Matrix metalloproteinase-9) |
| gnomAD constraint |
pLI=3.8e-24, LOEUF=1.16 — LoF-tolerant |
| GWAS Catalog |
142 unique SNPs / 350 rows |
| ClinVar |
519 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 3214 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 ‘MMP9’ and resolved to ‘Matrix metalloproteinase-9’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 519 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 60 traits by best p-value, aggregated from 75 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/P14780 — 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/ENSG00000100985/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL321/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MMP9 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MMP9 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MMP9%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MMP9 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:51:06 · 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