Protein Dossier — NRCAM (Neuronal cell adhesion molecule)
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 |
| Non-cancer illness code self-reported: high cholesterol |
-0.216 |
0.0503 |
1.70e-05 |
Wald ratio |
1 |
trans |
NA |
| Platelet count |
-9.43 |
2.54 |
2.00e-04 |
Wald ratio |
1 |
trans |
NA |
| Forced vital capacity (FVC) |
0.0432 |
0.0122 |
4.21e-04 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0991 |
0.0281 |
4.25e-04 |
Wald ratio |
1 |
trans |
NA |
| Rheumatoid arthritis |
-0.36 |
0.105 |
5.79e-04 |
Wald ratio |
1 |
trans |
NA |
| Systolic blood pressure automated reading |
-0.0504 |
0.0153 |
9.59e-04 |
Wald ratio |
1 |
trans |
NA |
| Forced expiratory volume in 1-second (FEV1) |
0.0418 |
0.0129 |
0.0012 |
Wald ratio |
1 |
trans |
NA |
| Schizophrenia |
0.204 |
0.0667 |
0.00225 |
Wald ratio |
1 |
trans |
NA |
| Alcohol intake frequency |
-0.0655 |
0.0221 |
0.00299 |
Wald ratio |
1 |
trans |
NA |
| Body mass index (BMI) |
-0.0427 |
0.0149 |
0.00421 |
Wald ratio |
1 |
trans |
NA |
| Ischemic stroke |
-0.278 |
0.101 |
0.00596 |
Wald ratio |
1 |
trans |
NA |
| Diastolic blood pressure automated reading |
-0.0384 |
0.0153 |
0.0121 |
Wald ratio |
1 |
trans |
NA |
| …and 94 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5109_24_3 |
Nr-CAM |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
63 association rows across 27 traits (49 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 |
| IL6ST/NRCAM protein level ratio |
7e-493 |
rs10953562 |
1 |
GCST90315168 |
no MR -> candidate analysis |
| Circulating NRCAM levels |
4e-467 |
rs12056165 |
8 |
GCST90859739 |
no MR -> candidate analysis |
| NRCAM/NTRK2 protein level ratio |
5e-450 |
rs10953562 |
1 |
GCST90315552 |
no MR -> candidate analysis |
| LAMB1 protein levels |
5e-167 |
rs111638202 |
15 |
GCST90469732 |
no MR -> candidate analysis |
| NRCAM protein levels |
1e-36 |
rs368131 |
11 |
GCST90470082 |
no MR -> candidate analysis |
| Somatostatin-28 levels |
3e-19 |
rs3833683 |
1 |
GCST90162478 |
no MR -> candidate analysis |
| Blood protein levels |
6e-14 |
rs10487851 |
2 |
GCST010104 |
no MR -> candidate analysis |
| Diastolic blood pressure |
2e-11 |
rs1269663 |
2 |
GCST90132904 |
MR: beta=-0.0384, p=0.0121 (trans) |
| Protein quantitative trait loci (liver) |
6e-10 |
rs117789043 |
1 |
GCST011427 |
no MR -> candidate analysis |
| Height |
7e-10 |
rs12333431 |
1 |
GCST90245848 |
MR: beta=0.0191, p=0.301 (trans) |
| Weight |
2e-9 |
rs73201511 |
2 |
GCST90662910 |
MR: beta=-0.0202, p=0.126 (trans) |
| Diastolic blood pressure (MTAG) |
2e-9 |
rs12536606 |
1 |
GCST90449057 |
no MR -> candidate analysis |
| …and 15 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 1366 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 |
| neurodevelopmental disorder with neuromuscular and skeletal abnormalities |
0.915 |
— |
established (curated) |
no MR -> candidate analysis |
| complex neurodevelopmental disorder |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| stroke disorder |
0.468 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.468 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian neoplasm |
0.468 |
— |
common-variant locus |
no MR -> candidate analysis |
| Raynaud disease |
0.425 |
— |
common-variant locus |
no MR -> candidate analysis |
| liver disorder |
0.425 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.319 |
— |
established (curated) |
no MR -> candidate analysis |
| ocular hypotension |
0.295 |
— |
common-variant locus |
no MR -> candidate analysis |
| myopia |
0.156 |
— |
established (curated) |
no MR -> candidate analysis |
| pathological myopia |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 11 rows above, 11 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=2.6e-11, LOEUF=0.636 — LoF-tolerant |
| GWAS Catalog |
78 unique SNPs / 156 rows |
| ClinVar |
288 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1366 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 ‘NRCAM’.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 288 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 27 traits by best p-value, aggregated from 63 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/Q92823 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000091129/associations — Open Targets data release 26.06
gnomad: https://gnomad.broadinstitute.org/gene/NRCAM — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/NRCAM — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NRCAM%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/NRCAM — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:04:20 · 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