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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation | 0.183 | 0.0584 | 0.00167 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd | 0.364 | 0.122 | 0.00273 | Wald ratio | 1 | cis | NA |
| Glioma | 0.663 | 0.233 | 0.00441 | Wald ratio | 1 | cis | NA |
| Sleep duration | -0.0206 | 0.00783 | 0.00837 | Wald ratio | 1 | cis | NA |
| 2hr glucose | 0.204 | 0.0861 | 0.0176 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | -0.03 | 0.0129 | 0.0205 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine | 0.142 | 0.0615 | 0.0209 | Wald ratio | 1 | cis | NA |
| Caudate volume | 44.9 | 20.6 | 0.0295 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.147 | 0.0754 | 0.0504 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: sleep apnoea | 0.273 | 0.141 | 0.0531 | Wald ratio | 1 | cis | NA |
| Small vessel disease | 0.299 | 0.161 | 0.0631 | Wald ratio | 1 | cis | NA |
| Invasive mucinous ovarian cancer | 0.323 | 0.184 | 0.0792 | Wald ratio | 1 | cis | NA |
| …and 83 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
12 association rows across 11 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 |
|---|---|---|---|---|---|
| Bile salt-activated lipase levels | 1e-44 | rs2075733 | 2 | GCST90427924 | no MR -> candidate analysis |
| ALPI protein levels | 1e-25 | rs141668780 | 1 | GCST90468285 | no MR -> candidate analysis |
| ABO protein levels | 4e-22 | rs551202309 | 1 | GCST90468191 | no MR -> candidate analysis |
| PLA2G1B protein levels | 2e-17 | rs116842520 | 1 | GCST90470246 | no MR -> candidate analysis |
| Type 1 diabetes | 4e-17 | rs541856133 | 1 | GCST90014023 | no MR -> candidate analysis |
| KIRREL2 protein levels | 2e-14 | rs526855 | 1 | GCST90469690 | no MR -> candidate analysis |
| Alkaline phosphatase (UKB data field 30610) | 3e-14 | rs577793545 | 1 | GCST90468060 | no MR -> candidate analysis |
| Serum levels of protein CEL | 1e-12 | rs509064 | 1 | GCST90090829 | no MR -> candidate analysis |
| CUZD1 protein levels | 3e-12 | rs75294797 | 1 | GCST90468919 | no MR -> candidate analysis |
| VWF protein levels | 7e-12 | rs142810361 | 1 | GCST90471065 | no MR -> candidate analysis |
| CD34 protein levels | 9e-12 | rs139744322 | 1 | GCST90468626 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 239 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 |
|---|---|---|---|---|
| MODY | 0.788 | — | established (curated) | no MR -> candidate analysis |
| maturity-onset diabetes of the young | 0.608 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.318 | — | established (curated) | no MR -> candidate analysis |
| monogenic diabetes | 0.246 | — | established (curated) | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.195 | — | established (curated) | no MR -> candidate analysis |
Of the 5 rows above, 5 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 | 0 known modulators (Bile salt-activated lipase) |
| gnomAD constraint | pLI=2e-09, LOEUF=0.893 — LoF-tolerant |
| GWAS Catalog | 169 unique SNPs / 384 rows |
| ClinVar | 486 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 239 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘CEL’ and resolved to ‘Bile salt-activated lipase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 486 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 11 of 11 traits by best p-value, aggregated from 12 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/P19835 — 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/ENSG00000170835/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3219/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CEL — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CEL — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CEL%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CEL — GWAS Catalog search API (live; release not exposed)