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 |
|---|---|---|---|---|---|---|---|
| Cancer code self-reported: prostate cancer | 0.299 | 0.0874 | 6.17e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hiatus hernia | 0.181 | 0.0548 | 9.58e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: joint disorder | 0.326 | 0.107 | 0.00219 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate | 0.282 | 0.0933 | 0.00248 | Wald ratio | 1 | cis | NA |
| Years of schooling | -0.0418 | 0.0139 | 0.0027 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level | 0.673 | 0.262 | 0.0103 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | -0.216 | 0.0857 | 0.0118 | Wald ratio | 1 | cis | NA |
| Happiness | 0.0273 | 0.0124 | 0.0271 | Wald ratio | 1 | cis | NA |
| Height | -0.0268 | 0.0129 | 0.0374 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | -0.264 | 0.139 | 0.0574 | Wald ratio | 1 | cis | NA |
| HbA1C | -0.0254 | 0.0146 | 0.0822 | Wald ratio | 1 | cis | NA |
| Paget’s disease | -0.454 | 0.262 | 0.0829 | Wald ratio | 1 | cis | NA |
| …and 86 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
59 association rows across 37 traits (48 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 | rs115515529 | 1 | GCST90321120 | no MR -> candidate analysis |
| Vertex-wise sulcal depth | 3e-39 | rs12723887 | 1 | GCST90095129 | no MR -> candidate analysis |
| Phosphoglucomutase-1 levels | 4e-33 | rs2269247 | 3 | GCST90248981 | no MR -> candidate analysis |
| Vertex-wise cortical surface area | 2e-24 | rs1627221 | 1 | GCST90095130 | no MR -> candidate analysis |
| Type 2 diabetes | 1e-23 | rs2269247 | 8 | GCST90492734 | MR: beta=0.106, p=0.363 (cis) |
| Phosphoglucomutase-1 levels (PGM1.9173.21.3) | 3e-23 | rs1126728 | 2 | GCST90242254 | no MR -> candidate analysis |
| Unsupervised deep imaging phenotypes (UDIP-FA) | 6e-21 | rs2787681 | 1 | GCST90860937 | no MR -> candidate analysis |
| Vertex-wise cortical thickness | 7e-21 | rs1701531 | 1 | GCST90095131 | no MR -> candidate analysis |
| Free Cholesterol to Cholesteryl Esters in Small HDL ratio | 9e-20 | rs115229534 | 1 | GCST90827928 | no MR -> candidate analysis |
| ROR1 protein levels | 1e-19 | rs1506402 | 1 | GCST90470492 | no MR -> candidate analysis |
| Cortical surface area | 1e-17 | rs1628254 | 2 | GCST90091060 | no MR -> candidate analysis |
| Cortical thickness | 1e-17 | rs1701531 | 1 | GCST90091061 | no MR -> candidate analysis |
| …and 25 more traits (see JSON) |
Top diseases by Open Targets association (of 289 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 |
|---|---|---|---|---|
| PGM1-congenital disorder of glycosylation | 0.926 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.816 | — | established (curated) | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.809 | — | common-variant locus | no MR -> candidate analysis |
| congenital disorder of glycosylation | 0.438 | — | established (curated) | no MR -> candidate analysis |
| type 1 diabetes mellitus | 0.663 | — | common-variant locus | no MR -> candidate analysis |
| adverse effect | 0.407 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.407 | — | common-variant locus | no MR -> candidate analysis |
| liver disorder | 0.379 | — | common-variant locus | no MR -> candidate analysis |
| eye color | 0.108 | — | common-variant locus | no MR -> candidate analysis |
| severe acute respiratory syndrome | 0.103 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.103 | — | common-variant locus | no MR -> candidate analysis |
| arthropathy | 0.066 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 12 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=4.4e-17, LOEUF=1.18 — LoF-tolerant |
| GWAS Catalog | 57 unique SNPs / 98 rows |
| ClinVar | 568 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 289 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 ‘PGM1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 568 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 37 traits by best p-value, aggregated from 59 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/P36871 — 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/ENSG00000079739/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PGM1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PGM1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PGM1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=PGM1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/PGM1 — GWAS Catalog search API (live; release not exposed)