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 |
|---|---|---|---|---|---|---|---|
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0415 | 0.0196 | 0.0341 | Wald ratio | 1 | cis | NA |
| Endometrioid ovarian cancer | -0.146 | 0.073 | 0.0455 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0281 | 0.0165 | 0.0877 | Wald ratio | 1 | cis | NA |
| Low grade serous ovarian cancer | -0.136 | 0.121 | 0.261 | Wald ratio | 1 | cis | NA |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
58 association rows across 36 traits (52 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 |
|---|---|---|---|---|---|
| CPXM1/VEGFC protein level ratio | 2e-1224 | rs34211052 | 1 | GCST90314223 | no MR -> candidate analysis |
| CPXM1/DKK1 protein level ratio | 4e-1156 | rs34211052 | 1 | GCST90314218 | no MR -> candidate analysis |
| CPXM1/SPARC protein level ratio | 1e-1030 | rs34211052 | 1 | GCST90314222 | no MR -> candidate analysis |
| ANGPT1/CPXM1 protein level ratio | 3e-839 | rs34211052 | 1 | GCST90313262 | no MR -> candidate analysis |
| CPXM1/MDK protein level ratio | 1e-802 | rs34211052 | 1 | GCST90314221 | no MR -> candidate analysis |
| CPXM1/HBEGF protein level ratio | 2e-598 | rs34211052 | 1 | GCST90314219 | no MR -> candidate analysis |
| CPXM1/LGMN protein level ratio | 1e-582 | rs34211052 | 1 | GCST90314220 | no MR -> candidate analysis |
| Circulating CPXM1 levels | 2e-556 | rs215545 | 2 | GCST90860566 | no MR -> candidate analysis |
| Probable carboxypeptidase X1 levels | 1e-284 | rs6132968 | 5 | GCST90426612 | no MR -> candidate analysis |
| Cerebrospinal fluid protein CPXM1 levels | 3e-201 | rs6132968 | 1 | GCST90944214 | no MR -> candidate analysis |
| CPXM1 protein levels | 1e-195 | rs41310169 | 9 | GCST90468849 | no MR -> candidate analysis |
| Serum levels of protein CPXM1 | 5e-116 | rs13043754 | 2 | GCST90089322 | no MR -> candidate analysis |
| …and 24 more traits (see JSON) |
Top diseases by Open Targets association (of 117 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 |
|---|---|---|---|---|
| portal hypertension | 0.453 | — | common-variant locus | no MR -> candidate analysis |
| nodular goiter | 0.13 | — | common-variant locus | no MR -> candidate analysis |
| major depressive disorder | 0.082 | — | common-variant locus | no MR -> candidate analysis |
| information processing speed | 0.072 | — | common-variant locus | no MR -> candidate analysis |
| campylobacteriosis | 0.061 | — | common-variant locus | 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=2.7e-22, LOEUF=1.09 — LoF-tolerant |
| GWAS Catalog | 59 unique SNPs / 118 rows |
| ClinVar | 155 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 117 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 ‘CPXM1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 155 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 36 traits by best p-value, aggregated from 58 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/Q96SM3 — 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/ENSG00000088882/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CPXM1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CPXM1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CPXM1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CPXM1 — GWAS Catalog search API (live; release not exposed)