Protein Dossier — NCAM1 (Neural cell adhesion molecule 1)
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 |
| Pancreatic cancer |
1.65 |
0.441 |
1.80e-04 |
Wald ratio |
1 |
trans |
NA |
| Bipolar disorder |
-0.222 |
0.0727 |
0.00221 |
Inverse variance weighted |
2 |
trans |
NA |
| Bipolar disorder |
-0.222 |
0.0727 |
0.00221 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions |
-0.00152 |
0.000545 |
0.00539 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions |
-0.00152 |
0.000545 |
0.00539 |
Inverse variance weighted |
2 |
cis |
NA |
| Systolic blood pressure automated reading |
0.0222 |
0.00807 |
0.00603 |
Inverse variance weighted |
2 |
trans |
NA |
| Systolic blood pressure automated reading |
0.0222 |
0.00807 |
0.00603 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
-0.00472 |
0.00185 |
0.0106 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: depression |
-0.00472 |
0.00185 |
0.0106 |
Inverse variance weighted |
2 |
cis |
NA |
| Neuroblastoma |
0.945 |
0.394 |
0.0163 |
Wald ratio |
1 |
trans |
NA |
| 2hr glucose |
-0.132 |
0.0564 |
0.0197 |
Inverse variance weighted |
2 |
trans |
NA |
| 2hr glucose |
-0.132 |
0.0564 |
0.0197 |
Inverse variance weighted |
2 |
cis |
NA |
| …and 213 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4498_62_2 |
NCAM-120 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
350 association rows across 195 traits (298 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 NCAM1 levels |
2e-426 |
rs11214489 |
5 |
GCST90860446 |
no MR -> candidate analysis |
| ITGB1/NCAM1 protein level ratio |
1e-415 |
rs17115160 |
1 |
GCST90315227 |
no MR -> candidate analysis |
| NCAM1 protein levels |
1e-295 |
rs12804485 |
12 |
GCST90470003 |
no MR -> candidate analysis |
| Smoking initiation |
9e-180 |
rs7935745 |
22 |
GCST90243985 |
no MR -> candidate analysis |
| CD16-CD56 on Natural Killer |
7e-155 |
rs77291736 |
2 |
GCST90001884 |
no MR -> candidate analysis |
| Neural cell adhesion molecule 1, 120 kDa isoform levels |
3e-73 |
rs11214489 |
5 |
GCST90248611 |
no MR -> candidate analysis |
| CD16-CD56 on Natural Killer T |
9e-71 |
rs77738700 |
2 |
GCST90001883 |
no MR -> candidate analysis |
| Smoking initiation (ever regular vs never regular) (MTAG) |
3e-61 |
rs2155646 |
1 |
GCST007468 |
no MR -> candidate analysis |
| Externalizing behaviour (multivariate analysis) |
7e-59 |
rs9919558 |
1 |
GCST90061435 |
no MR -> candidate analysis |
| Blood protein levels |
3e-54 |
rs11214489 |
2 |
GCST007128 |
no MR -> candidate analysis |
| Smoking status (ever vs never smokers) |
7e-48 |
rs7938812 |
5 |
GCST007327 |
no MR -> candidate analysis |
| Smoking initiation (ever regular vs never regular) |
9e-48 |
rs2155646 |
3 |
GCST007474 |
no MR -> candidate analysis |
| …and 183 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 2542 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 |
0.804 |
— |
common-variant locus |
MR: beta=-0.117, p=0.256 (trans) |
| gastroesophageal reflux disease |
0.809 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.806 |
— |
common-variant locus |
no MR -> candidate analysis |
| schizophrenia |
0.724 |
— |
common-variant locus |
MR: beta=-0.104, p=0.126 (trans) |
| Abdominal pain |
0.743 |
— |
common-variant locus |
MR: beta=-0.00166, p=0.451 (trans) |
| irritable bowel syndrome |
0.737 |
— |
common-variant locus |
no MR -> candidate analysis |
| post-traumatic stress disorder |
0.708 |
— |
common-variant locus |
no MR -> candidate analysis |
| Back pain |
0.701 |
— |
common-variant locus |
no MR -> candidate analysis |
| depressive disorder |
0.68 |
— |
common-variant locus |
MR: beta=-0.117, p=0.256 (trans) |
| brain injury |
0.689 |
— |
common-variant locus |
no MR -> candidate analysis |
| anorexia nervosa |
0.686 |
— |
common-variant locus |
MR: beta=-0.183, p=0.0649 (trans) |
| Cannabis use |
0.684 |
— |
common-variant locus |
no MR -> candidate analysis |
| mathematical ability |
0.683 |
— |
common-variant locus |
no MR -> candidate analysis |
| mood disorder |
0.672 |
— |
common-variant locus |
no MR -> candidate analysis |
| risk-taking behaviour |
0.657 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 10 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 |
3 known modulators (Neural cell adhesion molecule 1) |
| gnomAD constraint |
pLI=1, LOEUF=0.199 — LoF-INTOLERANT |
| GWAS Catalog |
185 unique SNPs / 430 rows |
| ClinVar |
73 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 2542 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘NCAM1’ and resolved to ‘Neural cell adhesion molecule 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 73 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 195 traits by best p-value, aggregated from 350 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/P13591 — 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/ENSG00000149294/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3712938/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/NCAM1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NCAM1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NCAM1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=NCAM1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/NCAM1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:55:55 · 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