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 |
|---|---|---|---|---|---|---|---|
| Body mass index (BMI) | 0.0515 | 0.0127 | 4.85e-05 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.251 | 0.0755 | 8.91e-04 | Wald ratio | 1 | trans | NA |
| Weight | 0.0299 | 0.0112 | 0.00754 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.352 | 0.132 | 0.00787 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Glaucoma | -0.461 | 0.174 | 0.00817 | Wald ratio | 1 | trans | NA |
| Fasting proinsulin | -0.0953 | 0.0361 | 0.0082 | Wald ratio | 1 | trans | NA |
| Fasting glucose | -0.0373 | 0.0157 | 0.0179 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | 0.16 | 0.0703 | 0.0226 | Wald ratio | 1 | trans | NA |
| Percent emphysema | -0.105 | 0.046 | 0.0227 | Wald ratio | 1 | trans | NA |
| Fractured bone site(s): Ankle | 0.194 | 0.09 | 0.0315 | Wald ratio | 1 | trans | NA |
| Neo-openness to experience | -0.79 | 0.37 | 0.0329 | Wald ratio | 1 | trans | NA |
| Transferrin Saturation | -0.108 | 0.053 | 0.0414 | Wald ratio | 1 | trans | NA |
| …and 90 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
78 association rows across 51 traits (71 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 |
|---|---|---|---|---|---|
| MLN/TNFRSF12A protein level ratio | 4e-737 | rs2894342 | 1 | GCST90315459 | no MR -> candidate analysis |
| Promotilin levels | 3e-266 | rs9357165 | 2 | GCST90249112 | no MR -> candidate analysis |
| MLN protein levels | 6e-134 | rs34929964 | 5 | GCST90469913 | no MR -> candidate analysis |
| Serum levels of protein MLN | 2e-118 | rs73412140 | 1 | GCST90089107 | no MR -> candidate analysis |
| Bone mineral density mean | 7e-112 | rs114588989 | 1 | GCST90321120 | no MR -> candidate analysis |
| Platelet crit (UKB data field 30090) | 5e-94 | rs35483019 | 1 | GCST90468096 | no MR -> candidate analysis |
| Promotilin levels (MLN.5631.83.3) | 4e-90 | rs147640352 | 2 | GCST90242398 | no MR -> candidate analysis |
| Blood protein levels | 4e-79 | rs2395400 | 1 | GCST006585 | no MR -> candidate analysis |
| TNXB protein levels | 2e-26 | rs3998110 | 1 | GCST90470930 | no MR -> candidate analysis |
| Body mass index | 5e-23 | rs2894342 | 7 | GCST90255621 | MR: beta=0.0515, p=4.85e-05 (trans) |
| Physical function (baseline) | 9e-23 | rs1547668 | 2 | GCST90565837 | no MR -> candidate analysis |
| CHMP1A/PTPN6 protein level ratio | 9e-16 | rs2281816 | 1 | GCST90314052 | no MR -> candidate analysis |
| …and 39 more traits (see JSON) |
Top diseases by Open Targets association (of 298 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 |
|---|---|---|---|---|
| rheumatoid arthritis | 0.674 | — | common-variant locus | MR: beta=-0.126, p=0.148 (trans) |
| Graves disease | 0.628 | — | common-variant locus | no MR -> candidate analysis |
| celiac disease | 0.613 | — | common-variant locus | no MR -> candidate analysis |
| Pain | 0.594 | — | common-variant locus | no MR -> candidate analysis |
| type 1 diabetes mellitus | 0.556 | — | common-variant locus | no MR -> candidate analysis |
| Knee pain | 0.511 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative colitis | 0.463 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.451 | — | common-variant locus | no MR -> candidate analysis |
| lichen sclerosus et atrophicus | 0.452 | — | common-variant locus | no MR -> candidate analysis |
| gastric carcinoma | 0.445 | — | common-variant locus | no MR -> candidate analysis |
| familial glucocorticoid deficiency | 0.441 | — | common-variant locus | no MR -> candidate analysis |
| gastritis | 0.413 | — | common-variant locus | MR: beta=0.16, p=0.0226 (trans) |
| Shoulder pain | 0.415 | — | common-variant locus | no MR -> candidate analysis |
| Neck pain | 0.415 | — | common-variant locus | no MR -> candidate analysis |
| duodenitis | 0.413 | — | common-variant locus | MR: beta=0.16, p=0.0226 (trans) |
Of the 15 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 | 0 known modulators (Promotilin) |
| gnomAD constraint | pLI=8.3e-06, LOEUF=1.64 — LoF-tolerant |
| GWAS Catalog | 139 unique SNPs / 346 rows |
| ClinVar | 26 records; 5 pathogenic in sample of 26 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 298 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 ‘MLN’ and resolved to ‘Promotilin’ — confirm this is the intended target.clinvar — Pathogenic count is over the 26 record(s) retrieved, NOT over all 26 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 51 traits by best p-value, aggregated from 78 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/P12872 — 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/ENSG00000096395/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5214853/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MLN — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MLN — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MLN%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MLN — GWAS Catalog search API (live; release not exposed)