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 |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain |
0.16 |
0.0391 |
4.18e-05 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
1.04 |
0.254 |
4.62e-05 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries |
0.222 |
0.0907 |
0.0143 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest |
0.0934 |
0.0386 |
0.0156 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) |
-0.413 |
0.197 |
0.0364 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: psoriasis |
0.157 |
0.0769 |
0.0406 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.211 |
0.106 |
0.0464 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N81 Female genital prolapse |
0.134 |
0.0698 |
0.0542 |
Wald ratio |
1 |
cis |
NA |
| Myocardial infarction |
-0.0767 |
0.0407 |
0.0597 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D25 Leiomyoma of uterus |
0.136 |
0.0736 |
0.0636 |
Wald ratio |
1 |
cis |
NA |
| Large vessel disease |
0.247 |
0.143 |
0.0842 |
Wald ratio |
1 |
cis |
NA |
| Cigarettes smoked per day |
0.634 |
0.402 |
0.114 |
Wald ratio |
1 |
cis |
NA |
| …and 63 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3298_52_2 |
Contactin-4 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
197 association rows across 115 traits (132 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 |
| CNTN4 protein levels |
2e-291 |
rs13071423 |
21 |
GCST90468806 |
no MR -> candidate analysis |
| Circulating IL5RA levels |
6e-272 |
rs340829 |
1 |
GCST90859717 |
no MR -> candidate analysis |
| IL5RA protein levels |
1e-255 |
rs340829 |
4 |
GCST90469600 |
no MR -> candidate analysis |
| Circulating CNTN4 levels |
4e-233 |
rs2729278 |
8 |
GCST90860657 |
no MR -> candidate analysis |
| Contactin-4 levels |
6e-88 |
rs163352 |
10 |
GCST90247124 |
no MR -> candidate analysis |
| Interleukin-5 receptor subunit alpha levels |
1e-30 |
rs340827 |
3 |
GCST90248075 |
no MR -> candidate analysis |
| Contactin-4 levels (CNTN4.3298.52.2) |
3e-24 |
rs163352 |
2 |
GCST90240786 |
no MR -> candidate analysis |
| Height |
3e-22 |
rs12636837 |
4 |
GCST90245848 |
MR: beta=-0.0139, p=0.261 (cis) |
| Serum levels of protein IL5RA |
8e-18 |
rs340827 |
2 |
GCST90088714 |
no MR -> candidate analysis |
| Serum levels of protein CNTN4 |
9e-18 |
rs13071423 |
3 |
GCST90088298 |
no MR -> candidate analysis |
| Blood cell traits latent factor 8 (white cell) |
1e-17 |
rs340829 |
7 |
GCST90559250 |
no MR -> candidate analysis |
| Smoking initiation |
7e-17 |
rs62243961 |
2 |
GCST90243985 |
no MR -> candidate analysis |
| …and 103 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 222 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 |
| schizophrenia |
0.652 |
— |
common-variant locus |
no MR -> candidate analysis |
| mathematical ability |
0.623 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.607 |
— |
common-variant locus |
no MR -> candidate analysis |
| bipolar disorder |
0.582 |
— |
common-variant locus |
MR: beta=-0.387, p=0.206 (cis) |
| stroke disorder |
0.58 |
— |
common-variant locus |
no MR -> candidate analysis |
| lip and oral cavity carcinoma |
0.559 |
— |
established (curated) |
no MR -> candidate analysis |
| placental retention |
0.562 |
— |
common-variant locus |
no MR -> candidate analysis |
| major depressive disorder |
0.555 |
— |
common-variant locus |
MR: beta=0.0631, p=0.467 (cis) |
| type 2 diabetes mellitus |
0.529 |
— |
common-variant locus |
no MR -> candidate analysis |
| autism spectrum disorder |
0.511 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to stimulus |
0.51 |
— |
common-variant locus |
no MR -> candidate analysis |
| adverse effect |
0.51 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian neoplasm |
0.504 |
— |
common-variant locus |
no MR -> candidate analysis |
| knee fracture |
0.499 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.498 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 13 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=1.7e-15, LOEUF=0.76 — LoF-tolerant |
| GWAS Catalog |
183 unique SNPs / 492 rows |
| ClinVar |
613 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 222 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 ‘CNTN4’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 613 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 115 traits by best p-value, aggregated from 197 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/Q8IWV2 — 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/ENSG00000144619/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CNTN4 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CNTN4 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CNTN4%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CNTN4 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:55:54 · 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