CausalSentinel

Protein Dossier — B3GALTL (Beta-1,3-glucosyltransferase)

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
Heel bone mineral density (BMD) T-score automated -0.0582 0.0133 1.24e-05 Wald ratio 1 cis NA
Pallidum volume 28.6 8.4 6.58e-04 Wald ratio 1 cis NA
Sodium in urine 0.0334 0.0101 9.85e-04 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) 0.951 0.312 0.00226 Wald ratio 1 cis NA
Non-cancer illness code self-reported: retinal detachment 0.378 0.125 0.00257 Wald ratio 1 cis NA
Diastolic blood pressure automated reading 0.0312 0.0105 0.00313 Wald ratio 1 cis NA
Diagnoses - main ICD10: R07 Pain in throat and chest 0.119 0.0408 0.00355 Wald ratio 1 cis NA
Non-cancer illness code self-reported: depression 0.109 0.0381 0.00428 Wald ratio 1 cis NA
Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis 0.302 0.113 0.00747 Wald ratio 1 cis NA
Neo-extraversion 0.859 0.335 0.0104 Wald ratio 1 cis NA
ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) 0.0838 0.0327 0.0105 Wald ratio 1 cis NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms 0.177 0.0706 0.0124 Wald ratio 1 cis NA
…and 106 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

No GWAS Catalog associations mapped to this gene.

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 2491 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
Peters plus syndrome 0.848 established (curated) no MR -> candidate analysis
hereditary disease 0.801 established (curated) no MR -> candidate analysis
age-related macular degeneration 0.738 common-variant locus no MR -> candidate analysis
major depressive disorder 0.732 common-variant locus no MR -> candidate analysis
COVID-19 0.687 common-variant locus no MR -> candidate analysis
mathematical ability 0.623 common-variant locus no MR -> candidate analysis
insomnia 0.561 common-variant locus no MR -> candidate analysis
health study participation 0.516 common-variant locus no MR -> candidate analysis
wet macular degeneration 0.501 common-variant locus no MR -> candidate analysis
risk-taking behaviour 0.501 common-variant locus no MR -> candidate analysis
atrophic macular degeneration 0.501 common-variant locus no MR -> candidate analysis
arthropathy 0.486 common-variant locus no MR -> candidate analysis
Vertigo 0.486 common-variant locus no MR -> candidate analysis
type 2 diabetes mellitus 0.48 common-variant locus no MR -> candidate analysis
mental disorder 0.475 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 15 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 not available
GWAS Catalog 1 unique SNPs / 1 rows
ClinVar no records
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance