Protein Dossier — ALCAM (CD166 antigen)
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 |
| Height |
-0.0752 |
0.0147 |
3.20e-07 |
Wald ratio |
1 |
cis |
0.959 |
| Vascular or heart problems diagnosed by doctor: Angina |
0.14 |
0.0582 |
0.0159 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia |
-0.32 |
0.134 |
0.0169 |
Wald ratio |
1 |
cis |
NA |
| Neo-conscientiousness |
0.914 |
0.384 |
0.0174 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate |
-0.498 |
0.216 |
0.0208 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest |
0.108 |
0.0478 |
0.0243 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level |
0.429 |
0.204 |
0.0356 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.104 |
0.0518 |
0.0444 |
Wald ratio |
1 |
cis |
NA |
| Mean platelet volume |
-0.0105 |
0.00523 |
0.0455 |
Wald ratio |
1 |
cis |
NA |
| Platelet count |
4.25 |
2.14 |
0.0468 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
-0.417 |
0.229 |
0.0686 |
Wald ratio |
1 |
cis |
NA |
| Caudate volume |
42.9 |
24 |
0.0742 |
Wald ratio |
1 |
cis |
NA |
| …and 97 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5451_1_3 |
ALCAM |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
203 association rows across 136 traits (157 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 |
1e-300 |
rs115445517 |
1 |
GCST90321120 |
no MR -> candidate analysis |
| ALCAM/NOTCH1 protein level ratio |
2e-157 |
rs34926152 |
1 |
GCST90313241 |
no MR -> candidate analysis |
| Vertex-wise sulcal depth |
9e-145 |
rs12374063 |
3 |
GCST90095129 |
no MR -> candidate analysis |
| ALCAM protein levels |
9e-106 |
rs34926152 |
4 |
GCST90468279 |
no MR -> candidate analysis |
| Vertex-wise cortical surface area |
5e-84 |
rs12374063 |
3 |
GCST90095130 |
no MR -> candidate analysis |
| Circulating ALCAM levels |
2e-70 |
rs147986832 |
3 |
GCST90859921 |
no MR -> candidate analysis |
| Vertex-wise cortical thickness |
4e-48 |
rs6782467 |
1 |
GCST90095131 |
no MR -> candidate analysis |
| Height |
9e-41 |
rs4894920 |
6 |
GCST90245848 |
MR: beta=-0.0752, p=3.20e-07 (cis) |
| Brain shape (segment 1) |
2e-38 |
rs12374063 |
1 |
GCST90012880 |
no MR -> candidate analysis |
| Unsupervised deep imaging phenotypes (UDIP-FA) |
8e-37 |
rs74283894 |
2 |
GCST90860937 |
no MR -> candidate analysis |
| Occipital area |
1e-36 |
rs6788676 |
2 |
GCST90572697 |
no MR -> candidate analysis |
| Brain morphology (MOSTest) |
3e-33 |
rs6782636 |
3 |
GCST90239729 |
no MR -> candidate analysis |
| …and 124 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 688 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 |
| open-angle glaucoma |
0.67 |
— |
common-variant locus |
no MR -> candidate analysis |
| mathematical ability |
0.685 |
— |
common-variant locus |
no MR -> candidate analysis |
| restless legs syndrome |
0.658 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.535 |
— |
common-variant locus |
no MR -> candidate analysis |
| COVID-19 |
0.503 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.505 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian dysfunction |
0.495 |
— |
common-variant locus |
no MR -> candidate analysis |
| liver disorder |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis, hand |
0.479 |
— |
common-variant locus |
no MR -> candidate analysis |
| breast carcinoma |
0.431 |
— |
common-variant locus |
no MR -> candidate analysis |
| cervical carcinoma |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| benign chondrogenic neoplasm |
0.424 |
— |
common-variant locus |
no MR -> candidate analysis |
| diabetes mellitus |
0.397 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis, hip |
0.399 |
— |
common-variant locus |
MR: beta=-0.159, p=0.121 (cis) |
| hypotensive disorder |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 14 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 |
1 known modulators (CD166 antigen) |
| gnomAD constraint |
pLI=0.11, LOEUF=0.574 — LoF-tolerant |
| GWAS Catalog |
138 unique SNPs / 264 rows |
| ClinVar |
126 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 688 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 ‘ALCAM’ and resolved to ‘CD166 antigen’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 126 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 136 traits by best p-value, aggregated from 203 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/Q13740 — 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/ENSG00000170017/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4665584/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ALCAM — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ALCAM — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ALCAM%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ALCAM — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:00:54 · 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