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 |
| Eczema |
0.113 |
0.0202 |
1.85e-08 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
0.0358 |
0.0093 |
1.17e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: asthma |
0.0299 |
0.00783 |
1.38e-04 |
Wald ratio |
1 |
cis |
NA |
| Platelet count |
-1.79 |
0.473 |
1.53e-04 |
Wald ratio |
1 |
cis |
NA |
| Subjective well being |
0.0118 |
0.00353 |
8.58e-04 |
Wald ratio |
1 |
cis |
NA |
| Age at menarche |
-0.0224 |
0.00676 |
9.30e-04 |
Wald ratio |
1 |
cis |
NA |
| Neuroblastoma |
0.168 |
0.0517 |
0.00116 |
Wald ratio |
1 |
cis |
NA |
| Hearing difficulty or problems: Yes |
0.0158 |
0.0049 |
0.00121 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.0606 |
0.0192 |
0.00162 |
Wald ratio |
1 |
cis |
NA |
| Mean cell haemoglobin |
0.0346 |
0.012 |
0.00395 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
0.0615 |
0.0226 |
0.00639 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
0.0503 |
0.0191 |
0.00849 |
Wald ratio |
1 |
cis |
NA |
| …and 110 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3366_51_2 |
ECM1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
15 association rows across 10 traits (13 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 |
| Extracellular matrix protein 1 levels |
5e-754 |
rs3737240 |
5 |
GCST90247388 |
no MR -> candidate analysis |
| ECM1 protein levels |
4e-186 |
rs3737240 |
1 |
GCST90453297 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein ECM1 levels |
3e-165 |
rs13294 |
1 |
GCST90945095 |
no MR -> candidate analysis |
| Circulating CA14 levels |
9e-63 |
rs138636989 |
1 |
GCST90860279 |
no MR -> candidate analysis |
| Protein levels in obesity |
7e-22 |
rs13294 |
1 |
GCST010196 |
no MR -> candidate analysis |
| Serum levels of protein TNFRSF13B |
2e-14 |
rs3737240 |
1 |
GCST90088026 |
no MR -> candidate analysis |
| Hip pain |
8e-10 |
rs3737240 |
1 |
GCST90245884 |
no MR -> candidate analysis |
| Genetically independent pain phenotypes (GIP1) |
2e-9 |
rs3737240 |
1 |
GCST90245879 |
no MR -> candidate analysis |
| Glucose-dependent insulinotropic peptide levels |
4e-8 |
rs72698892 |
1 |
GCST90091159 |
no MR -> candidate analysis |
| Systolic blood pressure |
3e-7 |
rs12031974 |
2 |
GCST90244038 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 383 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 |
| lipoid proteinosis |
0.841 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.318 |
— |
established (curated) |
no MR -> candidate analysis |
| aortic aneurysm |
0.272 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis |
0.267 |
— |
common-variant locus |
MR: beta=0.0358, p=1.17e-04 (cis) |
| multisite chronic pain |
0.264 |
— |
common-variant locus |
no MR -> candidate analysis |
| Hip pain |
0.205 |
— |
common-variant locus |
no MR -> candidate analysis |
| chronic musculoskeletal pain |
0.202 |
— |
common-variant locus |
no MR -> candidate analysis |
| autism |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
| sebaceous gland disorder |
0.161 |
— |
common-variant locus |
no MR -> candidate analysis |
| asthma |
0.086 |
— |
common-variant locus |
MR: beta=0.0299, p=1.38e-04 (cis) |
| atopic eczema |
0.142 |
— |
common-variant locus |
no MR -> candidate analysis |
| circadian rhythm |
0.143 |
— |
common-variant locus |
no MR -> candidate analysis |
| insomnia |
0.14 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 13 rows above, 11 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=1.2e-17, LOEUF=1.17 — LoF-tolerant |
| GWAS Catalog |
123 unique SNPs / 299 rows |
| ClinVar |
215 records; 10 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 383 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 ‘ECM1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 215 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 15 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/Q16610 — 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/ENSG00000143369/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ECM1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ECM1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ECM1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ECM1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:23:14 · 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