Protein Dossier — JAML (Junctional adhesion molecule-like)
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 |
| Weight |
-0.00683 |
0.00216 |
0.00156 |
Wald ratio |
1 |
cis |
NA |
| Height |
-0.00783 |
0.00291 |
0.00715 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
-0.00617 |
0.00234 |
0.00843 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.0516 |
0.0196 |
0.0085 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0054 |
0.00212 |
0.0107 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.044 |
0.0181 |
0.0152 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
-0.00477 |
0.00201 |
0.0174 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis |
0.0603 |
0.0268 |
0.0243 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.0231 |
0.0106 |
0.0294 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.0049 |
0.00241 |
0.0418 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
-0.00496 |
0.00244 |
0.0426 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis |
0.0409 |
0.0203 |
0.0442 |
Wald ratio |
1 |
cis |
NA |
| …and 57 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5094_62_3 |
JAML1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
49 association rows across 26 traits (48 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 |
| Junctional adhesion molecule-like (analyte X8232.90) levels |
1e-828 |
rs1805 |
1 |
GCST90427279 |
no MR -> candidate analysis |
| Junctional adhesion molecule-like levels (AMICA1.8232.90.3) |
6e-667 |
rs17121881 |
1 |
GCST90241666 |
no MR -> candidate analysis |
| Blood protein levels |
2e-338 |
rs4938490 |
1 |
GCST006585 |
no MR -> candidate analysis |
| SCN4B protein levels |
9e-69 |
rs117705089 |
3 |
GCST90470551 |
no MR -> candidate analysis |
| White blood cell count |
2e-49 |
rs143034248 |
8 |
GCST90002374 |
no MR -> candidate analysis |
| Neutrophil count |
5e-43 |
rs143034248 |
7 |
GCST90002351 |
no MR -> candidate analysis |
| white blood cell count (WBC, mean, inv-norm transformed) |
3e-39 |
rs143034248 |
2 |
GCST90476454 |
no MR -> candidate analysis |
| white blood cell count (WBC, minimum, inv-norm transformed) |
4e-35 |
rs143034248 |
2 |
GCST90476457 |
no MR -> candidate analysis |
| Protein Wnt-10a protein levels (SomaScan ID:8232-90) |
8e-35 |
rs17121881 |
1 |
GCST90437240 |
no MR -> candidate analysis |
| Neutrophill count (UKB data field 30140) |
6e-32 |
rs143034248 |
2 |
GCST90468092 |
no MR -> candidate analysis |
| neutrophil (absolute count, mean, inv-norm transformed) |
5e-26 |
rs143034248 |
2 |
GCST90475529 |
no MR -> candidate analysis |
| neutrophil (absolute count, minimum, inv-norm transformed) |
4e-25 |
rs143034248 |
2 |
GCST90475532 |
no MR -> candidate analysis |
| …and 14 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 114 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 |
| lung adenocarcinoma |
0.364 |
— |
common-variant locus |
no MR -> candidate analysis |
| intracranial hemorrhage |
0.33 |
— |
common-variant locus |
no MR -> candidate analysis |
| placenta praevia |
0.33 |
— |
common-variant locus |
no MR -> candidate analysis |
| lung carcinoma |
0.271 |
— |
common-variant locus |
no MR -> candidate analysis |
| non-small cell lung carcinoma |
0.151 |
— |
common-variant locus |
no MR -> candidate analysis |
| lung cancer |
0.11 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 6 rows above, 6 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=8e-06, LOEUF=0.889 — LoF-tolerant |
| GWAS Catalog |
68 unique SNPs / 136 rows |
| ClinVar |
49 records; 10 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 114 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 ‘JAML’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 49 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 26 traits by best p-value, aggregated from 49 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/Q86YT9 — 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/ENSG00000160593/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/JAML — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/JAML — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=JAML%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/JAML — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:20:34 · 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