Protein Dossier — UNC5D (Netrin receptor UNC5D)
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 |
| Alcohol intake frequency |
-0.0921 |
0.0252 |
2.60e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone |
0.384 |
0.134 |
0.00415 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
-0.044 |
0.0163 |
0.007 |
Wald ratio |
1 |
cis |
NA |
| Low grade serous ovarian cancer |
-0.939 |
0.348 |
0.00704 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: J33 Nasal polyp |
0.409 |
0.171 |
0.0165 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
-0.0413 |
0.0173 |
0.0171 |
Wald ratio |
1 |
cis |
NA |
| Small vessel disease |
-0.616 |
0.261 |
0.0183 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.0362 |
0.0168 |
0.0309 |
Wald ratio |
1 |
cis |
NA |
| Alzheimer’s disease |
-0.238 |
0.111 |
0.0323 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0288 |
0.014 |
0.0397 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
-0.135 |
0.067 |
0.0436 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: anxiety or panic attacks |
0.233 |
0.118 |
0.0494 |
Wald ratio |
1 |
cis |
NA |
| …and 98 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5140_56_3 |
UNC5H4 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
95 association rows across 64 traits (58 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 |
| Bone mineral density mean |
4e-94 |
rs139807600 |
4 |
GCST90321120 |
no MR -> candidate analysis |
| UNC5D protein levels |
5e-21 |
rs13260977 |
2 |
GCST90471010 |
no MR -> candidate analysis |
| Netrin receptor UNC5D levels |
1e-18 |
rs139942721 |
3 |
GCST90248760 |
no MR -> candidate analysis |
| Adolescent idiopathic scoliosis |
8e-17 |
rs1528706 |
2 |
GCST006287 |
no MR -> candidate analysis |
| Localized adiposity (PheCode 278.3) |
5e-14 |
rs529357862 |
2 |
GCST90479953 |
no MR -> candidate analysis |
| GLIPR1 protein levels |
5e-13 |
rs140268537 |
1 |
GCST90469357 |
no MR -> candidate analysis |
| Height |
1e-12 |
rs2405530 |
3 |
GCST90245848 |
no MR -> candidate analysis |
| Insomnia |
8e-12 |
rs573937698 |
8 |
GCST90131901 |
no MR -> candidate analysis |
| Cigarettes smoked per day |
3e-11 |
rs76942239 |
2 |
GCST90243987 |
MR: beta=-0.645, p=0.271 (cis) |
| Vertex-wise sulcal depth |
6e-11 |
rs10091394 |
1 |
GCST90095129 |
no MR -> candidate analysis |
| Bone mineral density variability |
6e-11 |
rs17254090 |
1 |
GCST90321119 |
no MR -> candidate analysis |
| Raw vegetable consumption |
6e-10 |
rs60695317 |
1 |
GCST90132978 |
no MR -> candidate analysis |
| …and 52 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 141 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 |
| alcohol drinking |
0.543 |
— |
common-variant locus |
no MR -> candidate analysis |
| duodenal ulcer |
0.523 |
— |
common-variant locus |
no MR -> candidate analysis |
| placental abruption |
0.51 |
— |
common-variant locus |
no MR -> candidate analysis |
| insomnia |
0.506 |
— |
common-variant locus |
no MR -> candidate analysis |
| adolescent idiopathic scoliosis |
0.502 |
— |
common-variant locus |
no MR -> candidate analysis |
| self-injurious ideation |
0.496 |
— |
common-variant locus |
no MR -> candidate analysis |
| Anisometropia |
0.479 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| tooth disorder |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| bone Paget disease |
0.472 |
— |
common-variant locus |
no MR -> candidate analysis |
| pericarditis |
0.472 |
— |
common-variant locus |
no MR -> candidate analysis |
| obesity disorder |
0.457 |
— |
common-variant locus |
no MR -> candidate analysis |
| cervical carcinoma |
0.41 |
— |
common-variant locus |
no MR -> candidate analysis |
| scoliosis |
0.406 |
— |
common-variant locus |
no MR -> candidate analysis |
| aortic atherosclerosis |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 15 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=0.98, LOEUF=0.483 — LoF-INTOLERANT |
| GWAS Catalog |
81 unique SNPs / 139 rows |
| ClinVar |
177 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 141 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 ‘UNC5D’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 177 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 64 traits by best p-value, aggregated from 95 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/Q6UXZ4 — 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/ENSG00000156687/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/UNC5D — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/UNC5D — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=UNC5D%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/UNC5D — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:33:11 · 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