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 |
|---|---|---|---|---|---|---|---|
| Cigarettes smoked per day | 0.508 | 0.217 | 0.0192 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I84 Haemorrhoids | 0.0963 | 0.0412 | 0.0193 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: migraine | 0.0833 | 0.0375 | 0.0262 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | -0.0751 | 0.0367 | 0.0408 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertension | -0.0244 | 0.0123 | 0.0474 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | -0.264 | 0.136 | 0.0527 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0172 | 0.0091 | 0.0584 | Wald ratio | 1 | cis | NA |
| Fasting glucose | -0.0154 | 0.00832 | 0.0646 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | -0.231 | 0.126 | 0.0657 | Wald ratio | 1 | cis | NA |
| Pulse rate | -0.0226 | 0.0125 | 0.0704 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | 0.0125 | 0.00704 | 0.0758 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | 0.0747 | 0.0422 | 0.077 | Wald ratio | 1 | cis | NA |
| …and 69 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
32 association rows across 25 traits (27 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 |
|---|---|---|---|---|---|
| Peptidyl-prolyl cis-trans isomerase-like 1 levels | 1e-451 | rs12194408 | 1 | GCST90248953 | no MR -> candidate analysis |
| heart rate (HR, minimum, inv-normal transformed) | 5e-66 | rs236352 | 3 | GCST90476341 | no MR -> candidate analysis |
| Peptidyl-prolyl cis-trans isomerase-like 1 levels (PPIL1.988 | 2e-55 | rs12194408 | 1 | GCST90242223 | no MR -> candidate analysis |
| Pulse rate (UKB data field 102) | 1e-32 | rs236349 | 1 | GCST90468177 | no MR -> candidate analysis |
| Heart rate variability traits (SDNN) | 2e-28 | rs236349 | 2 | GCST004734 | no MR -> candidate analysis |
| Height | 7e-25 | rs2071822 | 1 | GCST90245848 | no MR -> candidate analysis |
| heart rate (HR, mean, inv-normal transformed) | 1e-24 | rs236352 | 2 | GCST90476338 | no MR -> candidate analysis |
| Heart rate variability traits (RMSSD) | 6e-20 | rs236349 | 2 | GCST004733 | no MR -> candidate analysis |
| Heart rate variability (standard deviation of normal-to-norm | 9e-20 | rs236349 | 1 | GCST90281265 | no MR -> candidate analysis |
| Heart rate variability (corrected standard deviation of norm | 4e-19 | rs236349 | 1 | GCST90281266 | no MR -> candidate analysis |
| Heart rate variability (corrected root mean square of succes | 5e-17 | rs236349 | 1 | GCST90281264 | no MR -> candidate analysis |
| Heart rate variability (root mean square of successive diffe | 6e-16 | rs236349 | 1 | GCST90281263 | no MR -> candidate analysis |
| …and 13 more traits (see JSON) |
Top diseases by Open Targets association (of 490 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 |
|---|---|---|---|---|
| pontocerebellar hypoplasia, type 14 | 0.907 | — | established (curated) | no MR -> candidate analysis |
| pontocerebellar hypoplasia | 0.66 | — | established (curated) | no MR -> candidate analysis |
| Non-syndromic pontocerebellar hypoplasia | 0.66 | — | established (curated) | no MR -> candidate analysis |
| hypothyroidism | 0.549 | — | common-variant locus | MR: beta=-0.0245, p=0.445 (cis) |
| neurodevelopmental disorder | 0.438 | — | established (curated) | no MR -> candidate analysis |
| major depressive disorder | 0.316 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.309 | — | established (curated) | no MR -> candidate analysis |
| cardiac arrhythmia | 0.17 | — | common-variant locus | no MR -> candidate analysis |
Of the 8 rows above, 7 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 (Peptidyl-prolyl cis-trans isomerase-like 1) |
| gnomAD constraint | pLI=0.00026, LOEUF=1.13 — LoF-tolerant |
| GWAS Catalog | 64 unique SNPs / 128 rows |
| ClinVar | 56 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 490 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 ‘PPIL1’ and resolved to ‘Peptidyl-prolyl cis-trans isomerase-like 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 56 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 25 traits by best p-value, aggregated from 32 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/Q9Y3C6 — 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/ENSG00000137168/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5291529/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PPIL1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PPIL1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PPIL1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PPIL1 — GWAS Catalog search API (live; release not exposed)