Protein Dossier — PLXNC1 (Plexin-C1)
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 |
| HOMA-B |
-0.0209 |
0.00776 |
0.0071 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
-0.0146 |
0.0056 |
0.0093 |
Inverse variance weighted |
2 |
cis |
NA |
| Alcohol intake frequency |
-0.0146 |
0.0056 |
0.0093 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.108 |
0.0417 |
0.00959 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.108 |
0.0417 |
0.00959 |
Inverse variance weighted |
2 |
cis |
NA |
| Happiness |
-0.0107 |
0.00469 |
0.023 |
Inverse variance weighted |
2 |
cis |
NA |
| Happiness |
-0.0107 |
0.00469 |
0.023 |
Inverse variance weighted |
2 |
cis |
NA |
| Haemoglobin concentration |
-0.0344 |
0.0157 |
0.0285 |
Wald ratio |
1 |
cis |
NA |
| Hippocampus volume |
25.7 |
11.7 |
0.0286 |
Wald ratio |
1 |
cis |
NA |
| Mean platelet volume |
-0.00577 |
0.00269 |
0.0317 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: basal cell carcinoma |
-0.0912 |
0.0461 |
0.048 |
Inverse variance weighted |
2 |
cis |
NA |
| Cancer code self-reported: basal cell carcinoma |
-0.0912 |
0.0461 |
0.048 |
Inverse variance weighted |
2 |
cis |
NA |
| …and 125 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4564_2_2 |
PLXC1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
103 association rows across 68 traits (82 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 |
| Plexin-C1 levels |
2e-220 |
rs115651556 |
15 |
GCST90249041 |
no MR -> candidate analysis |
| Serum levels of protein PLXNC1 |
2e-151 |
rs115651556 |
3 |
GCST90088745 |
no MR -> candidate analysis |
| Plexin-C1 levels (PLXNC1.4564.2.2) |
2e-100 |
rs115651556 |
3 |
GCST90242300 |
no MR -> candidate analysis |
| Pulse pressure |
2e-36 |
rs114697502 |
4 |
GCST90310296 |
no MR -> candidate analysis |
| Blood protein levels |
2e-28 |
rs6538487 |
1 |
GCST006585 |
no MR -> candidate analysis |
| CR2 protein levels |
3e-26 |
rs114697502 |
1 |
GCST90468852 |
no MR -> candidate analysis |
| Plexin-C1 level in Chronic kidney disease with hypertension |
9e-25 |
rs114905217 |
1 |
GCST90237688 |
no MR -> candidate analysis |
| Atopic dermatitis |
3e-18 |
rs5005507 |
3 |
GCST90244787 |
no MR -> candidate analysis |
| Adolescent idiopathic scoliosis |
6e-15 |
rs3803070 |
1 |
GCST006287 |
no MR -> candidate analysis |
| Height (baseline) |
3e-13 |
rs577727484 |
2 |
GCST90565843 |
no MR -> candidate analysis |
| Eosinophil count |
6e-13 |
rs3858607 |
4 |
GCST90002298 |
no MR -> candidate analysis |
| Circulating CCL13 levels (id: OID00504_OID20655) |
6e-13 |
rs7305501 |
1 |
GCST90859860 |
no MR -> candidate analysis |
| …and 56 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 345 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 |
0.868 |
— |
common-variant locus |
MR: beta=0.0323, p=0.207 (cis) |
| dermatitis |
0.779 |
— |
common-variant locus |
no MR -> candidate analysis |
| respiratory system disorder |
0.696 |
— |
common-variant locus |
no MR -> candidate analysis |
| Eczematoid dermatitis |
0.661 |
— |
common-variant locus |
no MR -> candidate analysis |
| atopic eczema |
0.659 |
— |
common-variant locus |
no MR -> candidate analysis |
| hypothyroidism |
0.653 |
— |
common-variant locus |
MR: beta=0.0269, p=0.201 (cis) |
| facial morphology |
0.549 |
— |
common-variant locus |
no MR -> candidate analysis |
| neuroendocrine neoplasm |
0.542 |
— |
common-variant locus |
no MR -> candidate analysis |
| psoriasis |
0.538 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.537 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.537 |
— |
common-variant locus |
no MR -> candidate analysis |
| chronic rhinosinusitis |
0.528 |
— |
common-variant locus |
no MR -> candidate analysis |
| protozoa infectious disease |
0.499 |
— |
common-variant locus |
no MR -> candidate analysis |
| vertebral column disorder |
0.461 |
— |
common-variant locus |
no MR -> candidate analysis |
| brain aneurysm |
0.456 |
— |
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=0.023, LOEUF=0.51 — LoF-tolerant |
| GWAS Catalog |
84 unique SNPs / 161 rows |
| ClinVar |
213 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 345 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 ‘PLXNC1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 213 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 68 traits by best p-value, aggregated from 103 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/O60486 — 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/ENSG00000136040/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PLXNC1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PLXNC1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PLXNC1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PLXNC1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:27:56 · 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