Protein Dossier — MED1 (Methyl-CpG-binding domain protein 4)
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 |
| Pancreatic cancer |
0.176 |
0.115 |
0.125 |
Wald ratio |
1 |
trans |
NA |
| Melanoma |
-0.152 |
0.184 |
0.407 |
Wald ratio |
1 |
trans |
NA |
| Intracranial volume |
-3.37e+03 |
4.6e+03 |
0.463 |
Wald ratio |
1 |
trans |
NA |
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3891_56_1 |
MBD4 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
36 association rows across 31 traits (32 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 |
| Hematological traits (multi-trait analysis) |
4e-95 |
rs145835664 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Estimated glomerular filtration rate (creatinine) |
4e-48 |
rs55722796 |
1 |
GCST90103634 |
no MR -> candidate analysis |
| Circulating EPCAM levels |
2e-26 |
rs4795369 |
1 |
GCST90859956 |
no MR -> candidate analysis |
| Asthma (childhood onset) |
8e-23 |
rs145835664 |
1 |
GCST009841 |
no MR -> candidate analysis |
| EPCAM protein levels |
4e-22 |
rs4795369 |
1 |
GCST90469126 |
no MR -> candidate analysis |
| Neutrophil-to-lymphocyte ratio |
5e-20 |
rs145835664 |
4 |
GCST90866310 |
no MR -> candidate analysis |
| SLC51B protein levels |
2e-19 |
rs4795369 |
1 |
GCST90470664 |
no MR -> candidate analysis |
| Blood urea nitrogen (BUN, maximum, inv-norm transformed) |
3e-17 |
rs12943928 |
1 |
GCST90479524 |
no MR -> candidate analysis |
| Drinks per week |
6e-16 |
rs55722796 |
1 |
GCST90243989 |
no MR -> candidate analysis |
| White blood cell count |
9e-16 |
rs72825193 |
1 |
GCST007070 |
no MR -> candidate analysis |
| Asthma |
2e-14 |
rs146644295 |
1 |
GCST008916 |
no MR -> candidate analysis |
| Creatinine levels |
2e-14 |
rs4795361 |
2 |
GCST90827754 |
no MR -> candidate analysis |
| …and 19 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 784 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 |
| asthma |
0.355 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary atherosclerosis |
0.097 |
— |
common-variant locus |
no MR -> candidate analysis |
| systolic heart failure |
0.086 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 rows above, 3 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 (Methyl-CpG-binding domain protein 4) |
| gnomAD constraint |
pLI=1, LOEUF=0.21 — LoF-INTOLERANT |
| GWAS Catalog |
112 unique SNPs / 234 rows |
| ClinVar |
194 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 784 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 ‘MED1’ and resolved to ‘Methyl-CpG-binding domain protein 4’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 194 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 31 traits by best p-value, aggregated from 36 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/O95243 — 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/ENSG00000125686/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5723573/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MED1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MED1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MED1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MED1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:45:49 · 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