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 |
|---|---|---|---|---|---|---|---|
| Heel bone mineral density (BMD) T-score automated | 0.0665 | 0.0185 | 3.25e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: enlarged prostate | 0.251 | 0.0962 | 0.00901 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level | 0.843 | 0.332 | 0.0111 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | -0.0366 | 0.0146 | 0.0124 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0339 | 0.0143 | 0.0179 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.429 | 0.191 | 0.0246 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | 0.116 | 0.0525 | 0.0271 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: iron deficiency anaemia | 0.316 | 0.147 | 0.0312 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hiatus hernia | 0.154 | 0.0811 | 0.057 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: polio or poliomyelitis | 0.626 | 0.332 | 0.059 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | -0.0253 | 0.0146 | 0.0843 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | -0.439 | 0.254 | 0.0843 | Wald ratio | 1 | cis | NA |
| …and 50 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
64 association rows across 50 traits (38 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 |
|---|---|---|---|---|---|
| Carboxypeptidase M (analyte X9416.77) levels | 3e-121 | rs12372220 | 1 | GCST90427805 | no MR -> candidate analysis |
| Cerebrospinal fluid protein CPM levels | 9e-119 | rs12372220 | 1 | GCST90944212 | no MR -> candidate analysis |
| Carboxypeptidase M (analyte X7768.10) levels | 7e-81 | rs12372220 | 1 | GCST90427056 | no MR -> candidate analysis |
| CPM protein levels | 3e-77 | rs7978197 | 5 | GCST90468843 | no MR -> candidate analysis |
| Circulating CPM levels | 4e-66 | rs140860259 | 8 | GCST90859711 | no MR -> candidate analysis |
| CPM/LAMP2 protein level ratio | 1e-48 | rs11177417 | 1 | GCST90314215 | no MR -> candidate analysis |
| Height | 5e-36 | rs3741598 | 4 | GCST90245848 | no MR -> candidate analysis |
| Neutrophils and lymphocytes in blood (confirmatory factor an | 2e-23 | rs10784771 | 1 | GCST90309369 | no MR -> candidate analysis |
| Carboxypeptidase M levels | 8e-20 | rs7976135 | 1 | GCST90246879 | no MR -> candidate analysis |
| Cerebrospinal fluid N-acetylarginine levels | 3e-13 | rs12372220 | 1 | GCST90317973 | no MR -> candidate analysis |
| red blood cell count (RBC, mean, inv-norm transformed) | 6e-12 | rs73144210 | 1 | GCST90480669 | no MR -> candidate analysis |
| red blood cell count (RBC, maximum, inv-norm transformed) | 8e-12 | rs73144210 | 1 | GCST90480668 | no MR -> candidate analysis |
| …and 38 more traits (see JSON) |
Top diseases by Open Targets association (of 105 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 |
|---|---|---|---|---|
| salivary gland disorder | 0.508 | — | common-variant locus | no MR -> candidate analysis |
| diabetic ketoacidosis | 0.461 | — | common-variant locus | no MR -> candidate analysis |
| hydronephrosis | 0.461 | — | common-variant locus | no MR -> candidate analysis |
| Vertigo | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| Parkinson disease | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| multiple sclerosis | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| injury | 0.427 | — | common-variant locus | MR: beta=0.843, p=0.0111 (cis) |
| facial pain | 0.35 | — | common-variant locus | no MR -> candidate analysis |
| idiopathic pulmonary fibrosis | 0.341 | — | common-variant locus | no MR -> candidate analysis |
| autism | 0.182 | — | established (curated) | no MR -> candidate analysis |
| external ear disorder | 0.031 | — | common-variant locus | no MR -> candidate analysis |
Of the 11 rows above, 10 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 (Carboxypeptidase M) |
| gnomAD constraint | pLI=1.2e-09, LOEUF=1 — LoF-tolerant |
| GWAS Catalog | 81 unique SNPs / 124 rows |
| ClinVar | 73 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 105 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 ‘CPM’ and resolved to ‘Carboxypeptidase M’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 73 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 50 traits by best p-value, aggregated from 64 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/P14384 — 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/ENSG00000135678/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3038/ — ChEMBL (version not reported)gnomad: https://gnomad.broadinstitute.org/gene/CPM — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CPM — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CPM%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CPM — GWAS Catalog search API (live; release not exposed)