MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Weight | 0.0654 | 0.0123 | 1.05e-07 | Wald ratio | 1 | cis | 0.807 |
| Body mass index (BMI) | 0.0587 | 0.0139 | 2.49e-05 | Wald ratio | 1 | cis | NA |
| HDL cholesterol | 0.073 | 0.0198 | 2.18e-04 | Wald ratio | 1 | cis | NA |
| Haemoglobin concentration | 0.101 | 0.0326 | 0.00204 | Wald ratio | 1 | cis | NA |
| Major depressive disorder | -0.367 | 0.124 | 0.00319 | Wald ratio | 1 | cis | NA |
| Depressive symptoms | -0.0505 | 0.0184 | 0.00596 | Wald ratio | 1 | cis | NA |
| Triglycerides | -0.0524 | 0.0193 | 0.00664 | Wald ratio | 1 | cis | NA |
| Neuroblastoma | -0.661 | 0.249 | 0.00806 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: sleep apnoea | 0.396 | 0.175 | 0.0241 | Wald ratio | 1 | cis | NA |
| Iron | 0.126 | 0.056 | 0.0242 | Wald ratio | 1 | cis | NA |
| Urinary albumin-to-creatinine ratio | 0.0735 | 0.034 | 0.0306 | Wald ratio | 1 | cis | NA |
| Red blood cell count | 0.0266 | 0.0124 | 0.0317 | Wald ratio | 1 | cis | NA |
| …and 105 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
96 association rows across 61 traits (66 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 |
|---|---|---|---|---|---|
| Bone mineral density mean | 1e-300 | rs6024398 | 2 | GCST90321120 | no MR -> candidate analysis |
| CBLN4 protein levels | 3e-151 | rs12624596 | 10 | GCST90468554 | no MR -> candidate analysis |
| Cerebellin-4 levels | 9e-41 | rs6024420 | 3 | GCST90246872 | no MR -> candidate analysis |
| Weight | 1e-23 | rs6098825 | 3 | GCST90662910 | MR: beta=0.0654, p=1.05e-07 (cis) |
| Serum levels of protein CBLN4 | 3e-23 | rs8119592 | 2 | GCST90089146 | no MR -> candidate analysis |
| Adolescent idiopathic scoliosis | 2e-21 | rs6069391 | 1 | GCST006287 | no MR -> candidate analysis |
| Smoking initiation | 7e-18 | rs6069426 | 3 | GCST90243985 | no MR -> candidate analysis |
| Weight (mean, inv-normal transformed) | 7e-17 | rs6024462 | 1 | GCST90480727 | no MR -> candidate analysis |
| Weight (maximum, inv-normal transformed) | 3e-16 | rs6024462 | 1 | GCST90480726 | no MR -> candidate analysis |
| Body mass index (BMI, mean, inv-normal transformed) | 6e-16 | rs6024462 | 1 | GCST90479522 | no MR -> candidate analysis |
| Weight (minimum, inv-normal transformed) | 6e-16 | rs6024462 | 1 | GCST90480728 | no MR -> candidate analysis |
| Body size at age 10 | 8e-16 | rs2207894 | 1 | GCST010989 | no MR -> candidate analysis |
| …and 49 more traits (see JSON) |
Top diseases by Open Targets association (of 69 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 | 0.65 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.597 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.537 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.499 | — | common-variant locus | no MR -> candidate analysis |
| subarachnoid hemorrhage | 0.44 | — | common-variant locus | no MR -> candidate analysis |
| insomnia | 0.39 | — | common-variant locus | no MR -> candidate analysis |
| motion sickness | 0.372 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.363 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.363 | — | common-variant locus | no MR -> candidate analysis |
| arthropathy | 0.355 | — | common-variant locus | no MR -> candidate analysis |
| morbid obesity | 0.351 | — | common-variant locus | no MR -> candidate analysis |
| pituitary gland disorder | 0.351 | — | common-variant locus | no MR -> candidate analysis |
| diabetic neuropathy | 0.349 | — | common-variant locus | no MR -> candidate analysis |
| adolescent idiopathic scoliosis | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal pupillary function | 0.301 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=0.14, LOEUF=0.88 — LoF-tolerant |
| GWAS Catalog | 117 unique SNPs / 162 rows |
| ClinVar | 29 records; 11 pathogenic in sample of 29 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 69 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘CBLN4’.clinvar — Pathogenic count is over the 29 record(s) retrieved, NOT over all 29 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 61 traits by best p-value, aggregated from 96 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/Q9NTU7 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000054803/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CBLN4 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CBLN4 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CBLN4%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CBLN4 — GWAS Catalog search API (live; release not exposed)