CausalSentinel

Protein Dossier — UCMA (Unique cartilage matrix-associated protein)

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
Non-cancer illness code self-reported: pneumothorax 0.605 0.188 0.00125 Wald ratio 1 cis NA
Non-cancer illness code self-reported: migraine -0.0992 0.043 0.0211 Wald ratio 1 cis NA
Diagnoses - main ICD10: N81 Female genital prolapse -0.15 0.0656 0.0221 Wald ratio 1 cis NA
Cancer code self-reported: basal cell carcinoma 0.139 0.0614 0.0235 Wald ratio 1 cis NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level 0.466 0.212 0.0275 Wald ratio 1 cis NA
Non-cancer illness code self-reported: asthma 0.0382 0.0181 0.0351 Wald ratio 1 cis NA
Alcohol intake frequency 0.0194 0.00995 0.0514 Wald ratio 1 cis NA
Fasting proinsulin -0.0597 0.0307 0.0518 Wald ratio 1 cis NA
Diagnoses - main ICD10: R07 Pain in throat and chest 0.055 0.0284 0.0531 Wald ratio 1 cis NA
Autism 0.161 0.0839 0.0544 Wald ratio 1 cis NA
Non-cancer illness code self-reported: vitiligo 0.506 0.267 0.0581 Wald ratio 1 cis NA
Schizophrenia -0.0568 0.031 0.0673 Wald ratio 1 cis NA
…and 85 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

10 association rows across 6 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
Unique cartilage matrix-associated protein levels 2e-147 rs2399954 4 GCST90421289 no MR -> candidate analysis
Unique cartilage matrix-associated protein levels (UCMA.1097 3e-53 rs2093847 2 GCST90243285 no MR -> candidate analysis
Total PHF-tau (SNP x SNP interaction) 4e-8 rs533555 x rs8083208 1 GCST010340 no MR -> candidate analysis
Gut microbiome abundance (class Clostridium sensu stricto sp 2e-7 rs113702951 1 GCST90569029 no MR -> candidate analysis
Cortical thickness 4e-6 rs605293 1 GCST90104703 no MR -> candidate analysis
Self-reported allergy 7e-6 rs10796051 1 GCST002083 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 38 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
liver disorder 0.463 common-variant locus no MR -> candidate analysis
pleural empyema 0.461 common-variant locus no MR -> candidate analysis
foreign body 0.461 common-variant locus no MR -> candidate analysis
pneumothorax 0.461 common-variant locus MR: beta=0.605, p=0.00125 (cis)
thyroid cancer 0.461 common-variant locus MR: beta=-0.223, p=0.25 (cis)
type 2 diabetes mellitus 0.444 common-variant locus no MR -> candidate analysis
kidney transplant 0.353 common-variant locus no MR -> candidate analysis
keratoconus 0.182 established (curated) no MR -> candidate analysis
type 1 diabetes nephropathy 0.038 common-variant locus no MR -> candidate analysis
neuroendocrine neoplasm 0.036 common-variant locus no MR -> candidate analysis

Of the 10 rows above, 8 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=1e-07, LOEUF=1.39 — LoF-tolerant
GWAS Catalog 35 unique SNPs / 70 rows
ClinVar 61 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance