CausalSentinel

Protein Dossier — DCBLD2 (Discoidin, CUB and LCCL domain-containing protein 2)

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: R04 Haemorrhage from respiratory passages 0.318 0.0893 3.67e-04 Wald ratio 1 cis NA
Age at menarche -0.0694 0.0216 0.0013 Wald ratio 1 cis NA
Height -0.0323 0.0111 0.00375 Wald ratio 1 cis NA
Diagnoses - main ICD10: M72 Fibroblastic disorders 0.263 0.0925 0.00453 Wald ratio 1 cis NA
Weight -0.0194 0.00773 0.012 Wald ratio 1 cis NA
Large vessel disease -0.312 0.124 0.0122 Wald ratio 1 cis NA
Sleep duration 0.0171 0.00683 0.0124 Wald ratio 1 cis NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.104 0.0418 0.013 Wald ratio 1 cis NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0542 0.0231 0.0188 Wald ratio 1 cis NA
Diagnoses - main ICD10: N81 Female genital prolapse 0.144 0.0636 0.0233 Wald ratio 1 cis NA
Serum creatinine (eGFRcrea) -0.0071 0.00323 0.0278 Wald ratio 1 cis NA
Diagnoses - main ICD10: M54 Dorsalgia -0.177 0.0818 0.0302 Wald ratio 1 cis NA
…and 88 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

71 association rows across 50 traits (62 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
Circulating DCBLD2 levels (id: OID01005_OID21474) 5e-333 rs190637453 3 GCST90860231 no MR -> candidate analysis
Circulating DCBLD2 levels (id: OID01376_OID21474) 2e-332 rs190637453 3 GCST90860564 no MR -> candidate analysis
Blood protein levels 5e-331 rs3796133 2 GCST006585 no MR -> candidate analysis
Type 2 lactosamine alpha-2,3-sialyltransferase levels (ST3GA 2e-320 rs140620086 1 GCST90243193 no MR -> candidate analysis
Type 2 lactosamine alpha-2,3-sialyltransferase levels 6e-239 rs10589669 1 GCST90249754 no MR -> candidate analysis
SIGLEC9 protein levels 4e-156 rs62278488 5 GCST90470637 no MR -> candidate analysis
ICAM2 protein levels 2e-94 rs540295212 6 GCST90469499 no MR -> candidate analysis
Circulating TYRO3 levels 1e-61 rs36160001 1 GCST90860397 no MR -> candidate analysis
Circulating TIE1 levels 3e-51 rs1983009 1 GCST90860467 no MR -> candidate analysis
TNFSF8 protein levels 7e-42 rs34860591 1 GCST90470923 no MR -> candidate analysis
CD33 protein levels 1e-40 rs11552978 1 GCST90468625 no MR -> candidate analysis
PDCD1LG2 protein levels 2e-38 rs202190925 4 GCST90470180 no MR -> candidate analysis
…and 38 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 392 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
Abnormality of the skeletal system 0.582 common-variant locus no MR -> candidate analysis
open-angle glaucoma 0.52 common-variant locus no MR -> candidate analysis
preeclampsia 0.517 common-variant locus no MR -> candidate analysis
cervical carcinoma 0.494 common-variant locus no MR -> candidate analysis
ovarian dysfunction 0.484 common-variant locus no MR -> candidate analysis
ovarian neoplasm 0.484 common-variant locus no MR -> candidate analysis
spontaneous abortion 0.44 common-variant locus no MR -> candidate analysis
liver disorder 0.44 common-variant locus no MR -> candidate analysis
iron metabolism disease 0.44 common-variant locus no MR -> candidate analysis
heart disorder 0.409 common-variant locus no MR -> candidate analysis
glaucoma 0.397 common-variant locus MR: beta=-0.185, p=0.0367 (cis)
Abnormality of refraction 0.355 common-variant locus no MR -> candidate analysis
pernicious anemia 0.346 common-variant locus no MR -> candidate analysis
metabolic disease 0.329 common-variant locus no MR -> candidate analysis
placenta praevia 0.31 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 14 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=5.7e-11, LOEUF=0.78 — LoF-tolerant
GWAS Catalog 146 unique SNPs / 380 rows
ClinVar 130 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance