CausalSentinel

Protein Dossier — CTGF (CCN family member 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: K40 Inguinal hernia 0.158 0.0435 2.85e-04 Wald ratio 1 cis NA
Haemoglobin concentration -0.0943 0.0303 0.00186 Wald ratio 1 cis NA
Forced expiratory volume in 1-second (FEV1) 0.0222 0.00719 0.00202 Wald ratio 1 cis NA
Forced vital capacity (FVC) 0.019 0.00682 0.00539 Wald ratio 1 cis NA
Birth length -0.0867 0.0331 0.00891 Wald ratio 1 cis NA
Non-cancer illness code self-reported: uterine fibroids 0.151 0.0579 0.00915 Wald ratio 1 cis NA
Packed cell volume -0.217 0.0836 0.00941 Wald ratio 1 cis NA
Vascular or heart problems diagnosed by doctor: Angina -0.13 0.0532 0.0143 Wald ratio 1 cis NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0518 0.0212 0.0147 Wald ratio 1 cis NA
Height 0.0235 0.00992 0.0177 Wald ratio 1 cis NA
Cough on most days -0.113 0.048 0.0184 Wald ratio 1 cis NA
Transferrin -0.0799 0.0351 0.023 Wald ratio 1 cis NA
…and 84 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-2975_19_2 CTGF Suhre K 2019

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 3866 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
kyphomelic dysplasia 0.684 established (curated) no MR -> candidate analysis
spondyloepimetaphyseal dysplasia, Li-Shao-Li type 0.547 established (curated) no MR -> candidate analysis
vertebral column disorder 0.463 common-variant locus no MR -> candidate analysis
cardiomyopathy 0.44 common-variant locus no MR -> candidate analysis
enteritis 0.401 common-variant locus no MR -> candidate analysis
aortic stenosis 0.396 common-variant locus no MR -> candidate analysis
secondary malignant neoplasm 0.387 common-variant locus no MR -> candidate analysis
Hyperhidrosis 0.353 common-variant locus no MR -> candidate analysis
non-autoimmune hemolytic anemia 0.334 common-variant locus no MR -> candidate analysis
pulmonary embolism 0.25 common-variant locus MR: beta=0.102, p=0.226 (cis)

Of the 10 rows above, 9 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 1 known modulators (CCN family member 2)
gnomAD constraint not available
GWAS Catalog no mapped SNPs
ClinVar no records
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance