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 |
| Diastolic blood pressure automated reading |
0.0244 |
0.0063 |
1.09e-04 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
0.02 |
0.0063 |
0.00151 |
Wald ratio |
1 |
cis |
NA |
| Major depressive disorder |
-0.151 |
0.0556 |
0.00666 |
Wald ratio |
1 |
cis |
NA |
| PGC cross-disorder traits |
-0.0837 |
0.0317 |
0.00836 |
Wald ratio |
1 |
cis |
NA |
| Serum cystatin C (eGFRcys) |
-0.015 |
0.00613 |
0.0145 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse |
0.169 |
0.0708 |
0.0169 |
Wald ratio |
1 |
cis |
NA |
| Myocardial infarction |
0.0686 |
0.0301 |
0.0229 |
Wald ratio |
1 |
cis |
NA |
| Fracture resulting from simple fall |
0.0353 |
0.0155 |
0.0233 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
0.089 |
0.0406 |
0.0284 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: B37 Candidiasis |
0.426 |
0.201 |
0.0344 |
Wald ratio |
1 |
cis |
NA |
| Thyroid cancer |
-0.46 |
0.227 |
0.0423 |
Wald ratio |
1 |
cis |
NA |
| Depressive symptoms |
-0.0191 |
0.00954 |
0.0455 |
Wald ratio |
1 |
cis |
NA |
| …and 95 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3299_29_2 |
Contactin-5 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
429 association rows across 250 traits (308 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 CNTN5 levels |
4e-1251 |
rs961168 |
9 |
GCST90859680 |
no MR -> candidate analysis |
| CNTN5/ROBO2 protein level ratio |
3e-1070 |
rs4528296 |
1 |
GCST90314166 |
no MR -> candidate analysis |
| CNTN5 protein levels |
9e-286 |
rs10790497 |
46 |
GCST90468807 |
no MR -> candidate analysis |
| Bone mineral density mean |
1e-275 |
rs139318167 |
2 |
GCST90321120 |
no MR -> candidate analysis |
| Contactin-5 levels |
2e-175 |
rs898776 |
11 |
GCST90247125 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
2e-151 |
rs11224317 |
5 |
GCST90838669 |
no MR -> candidate analysis |
| Mean spheric corpuscular volume |
3e-89 |
rs11601576 |
1 |
GCST90002397 |
no MR -> candidate analysis |
| Glycated haemoglobin HbA1c levels (UKB data field 30750) |
7e-71 |
rs10894986 |
1 |
GCST90468072 |
no MR -> candidate analysis |
| Mean sphered cell volume (UKB data field 30270) |
2e-68 |
rs11224302 |
1 |
GCST90468089 |
no MR -> candidate analysis |
| Red cell distribution width |
7e-59 |
rs72996108 |
6 |
GCST90002369 |
no MR -> candidate analysis |
| Reticulocyte count (UKB data field 30250) |
8e-51 |
rs10894986 |
1 |
GCST90468100 |
no MR -> candidate analysis |
| Hemoglobin A1c levels |
3e-49 |
rs72996108 |
2 |
GCST90018958 |
no MR -> candidate analysis |
| …and 238 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 162 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 |
| major depressive disorder |
0.584 |
— |
common-variant locus |
MR: beta=-0.151, p=0.00666 (cis) |
| mathematical ability |
0.586 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.536 |
— |
common-variant locus |
no MR -> candidate analysis |
| insomnia |
0.514 |
— |
common-variant locus |
no MR -> candidate analysis |
| inborn disorder of amino acid metabolism |
0.512 |
— |
common-variant locus |
no MR -> candidate analysis |
| injury |
0.508 |
— |
common-variant locus |
MR: beta=-0.0859, p=0.33 (cis) |
| multinodular goiter |
0.485 |
— |
common-variant locus |
no MR -> candidate analysis |
| circadian rhythm sleep disorder |
0.46 |
— |
common-variant locus |
no MR -> candidate analysis |
| anxiety disorder |
0.458 |
— |
common-variant locus |
no MR -> candidate analysis |
| pyogenic granuloma |
0.436 |
— |
common-variant locus |
no MR -> candidate analysis |
| acute tonsillitis |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| skeletal system disorder |
0.409 |
— |
common-variant locus |
no MR -> candidate analysis |
| obesity disorder |
0.406 |
— |
common-variant locus |
no MR -> candidate analysis |
| ulcerative colitis |
0.406 |
— |
common-variant locus |
no MR -> candidate analysis |
| corneal dystrophy |
0.406 |
— |
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=4.7e-14, LOEUF=0.721 — LoF-tolerant |
| GWAS Catalog |
216 unique SNPs / 576 rows |
| ClinVar |
294 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 162 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 ‘CNTN5’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 294 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 250 traits by best p-value, aggregated from 429 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/O94779 — 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/ENSG00000149972/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CNTN5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CNTN5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CNTN5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CNTN5 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:56:12 · 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