CausalSentinel

Protein Dossier — CDH11 (Cadherin-11)

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
Alcohol intake frequency -0.0228 0.00704 0.00118 Wald ratio 1 cis NA
Creatinine (enzymatic) in urine -0.0115 0.00456 0.0117 Wald ratio 1 cis NA
Diagnoses - main ICD10: I83 Varicose veins of lower extremities -0.0902 0.0364 0.0132 Wald ratio 1 cis NA
Systolic blood pressure automated reading 0.0113 0.00488 0.0205 Wald ratio 1 cis NA
Eye problems or disorders: Diabetes related eye disease 0.123 0.054 0.0227 Wald ratio 1 cis NA
Vascular or heart problems diagnosed by doctor: Angina -0.064 0.0285 0.0246 Wald ratio 1 cis NA
Diagnoses - main ICD10: I48 Atrial fibrillation and flutter -0.103 0.0501 0.0406 Wald ratio 1 cis NA
Diastolic blood pressure automated reading 0.00999 0.00488 0.0406 Wald ratio 1 cis NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast 0.0706 0.0347 0.0421 Wald ratio 1 cis NA
Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] 0.0735 0.0369 0.0462 Wald ratio 1 cis NA
Lung cancer -0.0664 0.0345 0.0541 Wald ratio 1 cis NA
Non-cancer illness code self-reported: depression -0.0391 0.0204 0.0556 Wald ratio 1 cis NA
…and 86 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

74 association rows across 56 traits (60 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
Serum levels of protein CDH11 1e-197 rs3785315 2 GCST90090775 no MR -> candidate analysis
Blood protein levels 3e-101 rs59614634 1 GCST006585 no MR -> candidate analysis
Height 7e-61 rs35184 3 GCST90245848 no MR -> candidate analysis
Cadherin-11 level in Chronic kidney disease with hypertensio 3e-43 rs1130821 1 GCST90239421 no MR -> candidate analysis
Vertex-wise sulcal depth 1e-39 rs12920174 1 GCST90095129 no MR -> candidate analysis
Type 2 lactosamine alpha-2,3-sialyltransferase protein level 4e-20 rs12597175 1 GCST90439315 no MR -> candidate analysis
Vertex-wise cortical surface area 2e-19 rs257341 1 GCST90095130 no MR -> candidate analysis
Cortical surface area 1e-17 rs257341 2 GCST90091060 no MR -> candidate analysis
Primary open angle glaucoma (MTAG) 6e-17 rs257336 1 GCST90310210 no MR -> candidate analysis
Intraocular pressure 2e-15 rs564626594 6 GCST005580 no MR -> candidate analysis
Whole brain restricted directional diffusion (multivariate a 5e-15 rs1520229 1 GCST90131905 no MR -> candidate analysis
Cortical thickness 6e-15 rs257341 1 GCST90091061 no MR -> candidate analysis
…and 44 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 449 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
Teebi hypertelorism syndrome 2 0.909 established (curated) no MR -> candidate analysis
Elsahy-Waters syndrome 0.783 established (curated) no MR -> candidate analysis
Branchio-skeleto-genital syndrome 0.608 established (curated) no MR -> candidate analysis
open-angle glaucoma 0.784 common-variant locus no MR -> candidate analysis
chronic obstructive pulmonary disease 0.559 common-variant locus no MR -> candidate analysis
atrial fibrillation 0.51 common-variant locus MR: beta=-0.103, p=0.0406 (cis)
preeclampsia 0.523 common-variant locus no MR -> candidate analysis
glaucoma 0.524 common-variant locus no MR -> candidate analysis
prostatitis 0.523 common-variant locus no MR -> candidate analysis
cervical carcinoma 0.513 common-variant locus no MR -> candidate analysis

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 0 known modulators (Cadherin-11)
gnomAD constraint pLI=1, LOEUF=0.268 — LoF-INTOLERANT
GWAS Catalog 69 unique SNPs / 131 rows
ClinVar 216 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance