Protein Dossier — ESAM (Endothelial cell-selective 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 |
| Schizophrenia |
0.291 |
0.0515 |
1.50e-08 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
-0.0429 |
0.0121 |
4.07e-04 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
-0.0401 |
0.0121 |
9.57e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.14 |
0.046 |
0.00241 |
Wald ratio |
1 |
cis |
NA |
| PGC cross-disorder traits |
0.178 |
0.0587 |
0.00248 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
-0.0256 |
0.00926 |
0.00571 |
Wald ratio |
1 |
cis |
NA |
| Cough on most days |
0.145 |
0.0525 |
0.00574 |
Wald ratio |
1 |
cis |
NA |
| Bipolar disorder |
0.313 |
0.115 |
0.0064 |
Wald ratio |
1 |
cis |
NA |
| Years of schooling |
0.0425 |
0.017 |
0.0124 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.0275 |
0.0117 |
0.0186 |
Wald ratio |
1 |
cis |
NA |
| Large vessel disease |
-0.384 |
0.167 |
0.0217 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bone disorder |
0.402 |
0.176 |
0.0223 |
Wald ratio |
1 |
cis |
NA |
| …and 109 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2981_9_3 |
ESAM |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
8 association rows across 8 traits (7 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 |
| Endothelial cell-selective adhesion molecule levels |
2e-120 |
rs12792040 |
1 |
GCST90247390 |
no MR -> candidate analysis |
| Endothelial cell-selective adhesion molecule levels (ESAM.78 |
1e-28 |
rs61753651 |
1 |
GCST90241050 |
no MR -> candidate analysis |
| Endothelial cell-selective adhesion molecule (analyte X20536 |
1e-22 |
rs61753651 |
1 |
GCST90423781 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein ESAM levels |
2e-22 |
rs61753651 |
1 |
GCST90944756 |
no MR -> candidate analysis |
| Schizophrenia |
4e-13 |
rs12541 |
1 |
GCST90128471 |
MR: beta=0.291, p=1.50e-08 (cis) |
| VSIG2 protein levels |
2e-12 |
rs138993711 |
1 |
GCST90471051 |
no MR -> candidate analysis |
| Obesity class II and Anorexia nervosa or Schizophrenia |
1e-10 |
rs1940171 |
1 |
GCST90624556 |
no MR -> candidate analysis |
| Reaction time |
4e-6 |
rs12541 |
1 |
GCST006268 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 236 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 intracranial hemorrhage, seizures, and spasticity |
0.789 |
— |
established (curated) |
no MR -> candidate analysis |
| schizophrenia |
0.829 |
— |
common-variant locus |
MR: beta=0.291, p=1.50e-08 (cis) |
| autism spectrum disorder |
0.607 |
— |
common-variant locus |
no MR -> candidate analysis |
| anorexia nervosa |
0.566 |
— |
common-variant locus |
no MR -> candidate analysis |
| irritable bowel syndrome |
0.534 |
— |
common-variant locus |
no MR -> candidate analysis |
| attention deficit-hyperactivity disorder |
0.486 |
— |
common-variant locus |
no MR -> candidate analysis |
| bipolar disorder |
0.486 |
— |
common-variant locus |
MR: beta=0.313, p=0.0064 (cis) |
| major depressive disorder |
0.486 |
— |
common-variant locus |
MR: beta=0.117, p=0.264 (cis) |
| Tourette syndrome |
0.486 |
— |
common-variant locus |
no MR -> candidate analysis |
| intelligence |
0.486 |
— |
common-variant locus |
no MR -> candidate analysis |
| obsessive-compulsive disorder |
0.486 |
— |
common-variant locus |
no MR -> candidate analysis |
| preeclampsia |
0.451 |
— |
common-variant locus |
no MR -> candidate analysis |
| obesity disorder |
0.32 |
— |
common-variant locus |
no MR -> candidate analysis |
| post term pregnancy |
0.153 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 14 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=2e-06, LOEUF=1.03 — LoF-tolerant |
| GWAS Catalog |
37 unique SNPs / 74 rows |
| ClinVar |
154 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 236 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 ‘ESAM’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 154 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 8 of 8 traits by best p-value, aggregated from 8 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/Q96AP7 — 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/ENSG00000149564/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ESAM — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ESAM — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ESAM%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ESAM — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:29:14 · 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