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: R11 Nausea and vomiting | 0.542 | 0.167 | 0.00116 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.457 | 0.166 | 0.00582 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0586 | 0.0226 | 0.00945 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: malignant melanoma | 0.357 | 0.142 | 0.0116 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K43 Ventral hernia | 0.423 | 0.178 | 0.0173 | Wald ratio | 1 | cis | NA |
| Bulimia nervosa | -0.104 | 0.0519 | 0.0455 | Wald ratio | 1 | cis | NA |
| Type 2 diabetes | -0.192 | 0.0965 | 0.0468 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: migraine | -0.258 | 0.133 | 0.0529 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: psoriasis | 0.25 | 0.13 | 0.0549 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.175 | 0.0916 | 0.0555 | Wald ratio | 1 | cis | NA |
| Neo-agreeableness | 0.84 | 0.459 | 0.0674 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | -0.0675 | 0.0383 | 0.0779 | Wald ratio | 1 | cis | NA |
| …and 71 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
21 association rows across 20 traits (14 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 |
|---|---|---|---|---|---|
| Receptor-type tyrosine-protein phosphatase U levels | 3e-24 | rs3835409 | 1 | GCST90249182 | no MR -> candidate analysis |
| Serum levels of protein PTPRU | 6e-18 | rs10737387 | 1 | GCST90090137 | no MR -> candidate analysis |
| Height | 2e-16 | rs2235937 | 1 | GCST90245848 | no MR -> candidate analysis |
| Mean corpuscular volume | 6e-16 | rs4654395 | 1 | GCST90002392 | no MR -> candidate analysis |
| Triglyceride levels | 6e-13 | rs6670211 | 1 | GCST90662893 | no MR -> candidate analysis |
| Appendicular lean mass | 6e-12 | rs6687475 | 1 | GCST90000025 | no MR -> candidate analysis |
| Total PHF-tau (SNP x SNP interaction) | 1e-11 | rs1032425 x rs11124842 | 2 | GCST010340 | no MR -> candidate analysis |
| HDL cholesterol levels | 2e-10 | rs4654395 | 1 | GCST010242 | no MR -> candidate analysis |
| Adipoylcarnitine levels | 3e-10 | rs2640465 | 1 | GCST90245100 | no MR -> candidate analysis |
| Apolipoprotein A1 levels | 4e-10 | rs4654395 | 1 | GCST010241 | no MR -> candidate analysis |
| Diastolic blood pressure | 3e-9 | rs12097349 | 1 | GCST90435414 | MR: beta=-0.0155, p=0.384 (cis) |
| Gut microbial network clusters (Salmon (at 1 year) x Househo | 2e-8 | rs61783730 | 1 | GCST90569455 | no MR -> candidate analysis |
| …and 8 more traits (see JSON) |
Top diseases by Open Targets association (of 104 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 |
|---|---|---|---|---|
| Short stature | 0.552 | — | established (curated) | no MR -> candidate analysis |
| Phenotypic abnormality | 0.312 | — | common-variant locus | no MR -> candidate analysis |
| malunion fracture | 0.312 | — | common-variant locus | no MR -> candidate analysis |
| nervous system benign neoplasm | 0.249 | — | common-variant locus | no MR -> candidate analysis |
| lung cancer | 0.189 | — | established (curated) | MR: beta=0.215, p=0.256 (cis) |
| Hematemesis | 0.236 | — | common-variant locus | no MR -> candidate analysis |
| chronic venous hypertension | 0.236 | — | common-variant locus | no MR -> candidate analysis |
| Shock | 0.236 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative colitis | 0.228 | — | common-variant locus | no MR -> candidate analysis |
| postinflammatory pulmonary fibrosis | 0.228 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.226 | — | common-variant locus | no MR -> candidate analysis |
| adolescent idiopathic scoliosis | 0.216 | — | common-variant locus | no MR -> candidate analysis |
| head injury | 0.2 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.194 | — | common-variant locus | no MR -> candidate analysis |
| ankylosing spondylitis | 0.193 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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 (Receptor-type tyrosine-protein phosphatase U) |
| gnomAD constraint | pLI=0.091, LOEUF=0.507 — LoF-tolerant |
| GWAS Catalog | 41 unique SNPs / 82 rows |
| ClinVar | 304 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 104 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 ‘PTPRU’ and resolved to ‘Receptor-type tyrosine-protein phosphatase U’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 304 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 20 traits by best p-value, aggregated from 21 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/Q92729 — 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/ENSG00000060656/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1961785/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PTPRU — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PTPRU — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PTPRU%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PTPRU — GWAS Catalog search API (live; release not exposed)