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 |
|---|---|---|---|---|---|---|---|
| Schizophrenia | 0.158 | 0.0426 | 2.11e-04 | Wald ratio | 1 | cis | NA |
| Putamen volume | -76.6 | 23.5 | 0.00112 | Wald ratio | 1 | cis | NA |
| Primary sclerosing cholangitis | 0.362 | 0.117 | 0.00203 | Wald ratio | 1 | cis | NA |
| Neuroblastoma | -0.513 | 0.169 | 0.00238 | Wald ratio | 1 | cis | NA |
| Hippocampus volume | -55.1 | 18.4 | 0.00271 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia | -0.248 | 0.0978 | 0.0113 | Wald ratio | 1 | cis | NA |
| Fasting glucose | 0.0313 | 0.0125 | 0.0124 | Wald ratio | 1 | cis | NA |
| Happiness | -0.0292 | 0.0117 | 0.0125 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Diabetes related eye disease | 0.24 | 0.096 | 0.0125 | Wald ratio | 1 | cis | NA |
| Neo-openness to experience | 0.715 | 0.287 | 0.0128 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: asthma | 0.0581 | 0.0249 | 0.0198 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | 0.0931 | 0.0415 | 0.0248 | Wald ratio | 1 | cis | NA |
| …and 111 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
14 association rows across 12 traits (12 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 |
|---|---|---|---|---|---|
| Cyclic AMP-responsive element-binding protein 3-like protein | 2e-123 | rs11288257 | 1 | GCST90247145 | no MR -> candidate analysis |
| Serum levels of protein CREB3L4 | 1e-51 | rs11264736 | 1 | GCST90086676 | no MR -> candidate analysis |
| Prostate cancer | 2e-38 | rs11264734 | 3 | GCST90274713 | MR: beta=0.102, p=0.309 (cis) |
| Cyclic AMP-responsive element-binding protein 3-like protein | 7e-25 | rs4845586 | 1 | GCST90240818 | no MR -> candidate analysis |
| wg lh intensity-contrast precuneus | 9e-15 | rs4845586 | 1 | GCST90003816 | no MR -> candidate analysis |
| wg lh intensity-contrast superiorparietal | 4e-13 | rs6661009 | 1 | GCST90003820 | no MR -> candidate analysis |
| Irritable bowel syndrome (MTAG) | 1e-11 | rs6671362 | 1 | GCST90824080 | no MR -> candidate analysis |
| wg lh intensity-contrast inferiorparietal | 4e-11 | rs4845586 | 1 | GCST90003799 | no MR -> candidate analysis |
| Brain shape (segment 15) | 4e-9 | rs6666703 | 1 | GCST90012894 | no MR -> candidate analysis |
| Cortical thickness (MOSTest) | 4e-8 | rs6666703 | 1 | GCST010700 | no MR -> candidate analysis |
| Lentiform nucleus volume | 4e-6 | rs11264736 | 1 | GCST001640 | no MR -> candidate analysis |
| Itch intensity from mosquito bite adjusted by bite size | 9e-6 | rs78314980 | 1 | GCST004865 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 209 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 |
|---|---|---|---|---|
| placental retention | 0.336 | — | common-variant locus | no MR -> candidate analysis |
| prostate carcinoma | 0.244 | — | common-variant locus | no MR -> candidate analysis |
| prostate cancer | 0.171 | — | common-variant locus | MR: beta=0.102, p=0.309 (cis) |
| cervical carcinoma | 0.131 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.119 | — | common-variant locus | no MR -> candidate analysis |
| schizophrenia | 0.113 | — | common-variant locus | MR: beta=0.158, p=2.11e-04 (cis) |
Of the 6 rows above, 4 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=5.9e-08, LOEUF=1.04 — LoF-tolerant |
| GWAS Catalog | 60 unique SNPs / 119 rows |
| ClinVar | 94 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 209 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 ‘CREB3L4’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 94 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 12 of 12 traits by best p-value, aggregated from 14 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/Q8TEY5 — 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/ENSG00000143578/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CREB3L4 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CREB3L4 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CREB3L4%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CREB3L4 — GWAS Catalog search API (live; release not exposed)