Protein Dossier — MIA (Melanoma-derived growth regulatory protein)
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 |
| Creatinine (enzymatic) in urine |
0.00949 |
0.00308 |
0.00204 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.0139 |
0.00458 |
0.00244 |
Wald ratio |
1 |
cis |
NA |
| Neo-agreeableness |
0.214 |
0.0791 |
0.00684 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting |
0.122 |
0.0454 |
0.0073 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypopituitarism |
0.327 |
0.128 |
0.0107 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
0.00745 |
0.00316 |
0.0185 |
Wald ratio |
1 |
cis |
NA |
| Nucleus accumbens volume |
3.34 |
1.47 |
0.0234 |
Wald ratio |
1 |
cis |
NA |
| Neo-neuroticism |
-0.271 |
0.122 |
0.0265 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis |
0.0766 |
0.0346 |
0.027 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages |
-0.107 |
0.0498 |
0.0325 |
Wald ratio |
1 |
cis |
NA |
| Birth length |
0.0277 |
0.013 |
0.0329 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine |
0.0451 |
0.0216 |
0.037 |
Wald ratio |
1 |
cis |
NA |
| …and 98 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2687_2_1 |
MIA |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
52 association rows across 35 traits (43 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 |
| Circulating MIA levels |
5e-2954 |
rs2607423 |
1 |
GCST90860044 |
no MR -> candidate analysis |
| MIA/NBL1 protein level ratio |
2e-1524 |
rs112889062 |
1 |
GCST90315445 |
no MR -> candidate analysis |
| melanoma-derived growth regulatory protein levels |
7e-864 |
rs2233159 |
10 |
GCST90248443 |
no MR -> candidate analysis |
| Melanoma-derived growth regulatory protein levels (MIA.2687. |
3e-253 |
rs2604877 |
2 |
GCST90241910 |
no MR -> candidate analysis |
| Blood protein levels |
1e-164 |
rs2233154 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Melanoma-derived growth regulatory protein level in Chronic |
3e-64 |
rs2607421 |
1 |
GCST90237048 |
no MR -> candidate analysis |
| Protein levels in obesity |
4e-34 |
rs2607426 |
1 |
GCST010196 |
no MR -> candidate analysis |
| Cigarettes smoked per day |
8e-33 |
rs117248593 |
1 |
GCST90243987 |
MR: beta=-0.0914, p=0.409 (cis) |
| MIA levels |
2e-26 |
rs2279699 |
1 |
GCST90274901 |
no MR -> candidate analysis |
| Serum levels of protein MIA |
9e-26 |
rs2604894 |
1 |
GCST90088019 |
no MR -> candidate analysis |
| Liver enzyme levels (alkaline phosphatase) |
1e-22 |
rs11672227 |
1 |
GCST90013406 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein MIA levels |
3e-19 |
rs2607421 |
1 |
GCST90944429 |
no MR -> candidate analysis |
| …and 23 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 102 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 |
| Kawasaki disease |
0.5 |
— |
common-variant locus |
no MR -> candidate analysis |
| chronic obstructive pulmonary disease |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| preeclampsia |
0.153 |
— |
common-variant locus |
no MR -> candidate analysis |
| medical procedure |
0.097 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis, knee |
0.097 |
— |
common-variant locus |
MR: beta=0.0338, p=0.236 (cis) |
| venous thromboembolism |
0.053 |
— |
common-variant locus |
no MR -> candidate analysis |
| Hammer Toe Syndrome |
0.045 |
— |
common-variant locus |
no MR -> candidate analysis |
| chronic bronchitis |
0.038 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 8 rows above, 7 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 |
0 known modulators (MIA PaCa-2) |
| gnomAD constraint |
pLI=8.5e-07, LOEUF=1.44 — LoF-tolerant |
| GWAS Catalog |
148 unique SNPs / 362 rows |
| ClinVar |
30 records; 9 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 102 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 ‘MIA’ and resolved to ‘MIA PaCa-2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 30 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 35 traits by best p-value, aggregated from 52 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/Q16674 — 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/ENSG00000261857/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL614725/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MIA — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MIA — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MIA%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MIA — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:48:05 · 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