CausalSentinel

Protein Dossier — ART3 (Ecto-ADP-ribosyltransferase 3)

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
Diagnoses - main ICD10: I30 Acute pericarditis 0.724 0.253 0.00418 Wald ratio 1 cis NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) 0.148 0.052 0.0045 Wald ratio 1 cis NA
Diagnoses - main ICD10: B37 Candidiasis 0.585 0.241 0.0154 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hypertension 0.0329 0.014 0.0187 Wald ratio 1 cis NA
Heel bone mineral density (BMD) T-score automated -0.0251 0.011 0.0225 Wald ratio 1 cis NA
Eye problems or disorders: Cataract 0.0941 0.0423 0.0261 Wald ratio 1 cis NA
Hippocampus volume 33.7 16.7 0.0431 Wald ratio 1 cis NA
Eye problems or disorders: Injury or trauma resulting in loss of vision -0.308 0.155 0.0473 Wald ratio 1 cis NA
Happiness -0.0204 0.0105 0.0524 Wald ratio 1 cis NA
Myocardial infarction 0.0699 0.0373 0.0611 Wald ratio 1 cis NA
Non-cancer illness code self-reported: joint disorder 0.191 0.104 0.0655 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus -0.164 0.089 0.066 Wald ratio 1 cis NA
…and 76 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

92 association rows across 51 traits (83 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
C-X-C motif chemokine 11 levels 8e-389 rs35170645 8 GCST90247202 no MR -> candidate analysis
CXCL11/DKK1 protein level ratio 1e-359 rs6826163 1 GCST90314334 no MR -> candidate analysis
ART3/RGMB protein level ratio 2e-346 rs4859418 1 GCST90313363 no MR -> candidate analysis
Circulating CXCL11 levels (id: OID00486_OID21042) 8e-314 rs35170645 5 GCST90859845 no MR -> candidate analysis
CXCL11 protein levels 9e-301 rs35170645 4 GCST90468924 no MR -> candidate analysis
ART3/RGMA protein level ratio 9e-300 rs4859418 1 GCST90313362 no MR -> candidate analysis
Circulating CXCL11 levels (id: OID00767_OID21042) 9e-295 rs35170645 5 GCST90860102 no MR -> candidate analysis
C-X-C motif chemokine 10 levels 6e-271 rs11548618 3 GCST90274780 no MR -> candidate analysis
Circulating CXCL10 levels (id: OID00535_OID20697) 7e-267 rs564487523 2 GCST90859889 no MR -> candidate analysis
CXCL11/VTA1 protein level ratio 3e-215 rs6532086 1 GCST90314337 no MR -> candidate analysis
Circulating CXCL10 levels (id: OID00807_OID20697) 1e-158 rs564487523 2 GCST90860137 no MR -> candidate analysis
ART3 protein levels 5e-128 rs7682766 1 GCST90468370 no MR -> candidate analysis
…and 39 more traits (see JSON)          

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

Top diseases by Open Targets association (of 97 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
type 2 diabetes mellitus 0.489 common-variant locus no MR -> candidate analysis
bone Paget disease 0.416 common-variant locus no MR -> candidate analysis
Parkinson disease 0.25 common-variant locus no MR -> candidate analysis
atrial fibrillation 0.178 common-variant locus MR: beta=-0.0643, p=0.457 (cis)
atrial flutter 0.065 common-variant locus MR: beta=-0.0643, p=0.457 (cis)

Of the 5 rows above, 3 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=2.5e-17, LOEUF=1.28 — LoF-tolerant
GWAS Catalog 125 unique SNPs / 296 rows
ClinVar 160 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance