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 |
|---|---|---|---|---|---|---|---|
| Pallidum volume | 16.1 | 5.07 | 0.00154 | Wald ratio | 1 | cis | NA |
| Weight | -0.0181 | 0.00615 | 0.00317 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0204 | 0.00696 | 0.00335 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: uterine fibroids | 0.124 | 0.0498 | 0.013 | Wald ratio | 1 | cis | NA |
| Vascular or heart problems diagnosed by doctor: Angina | -0.104 | 0.0434 | 0.017 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: depression | -0.0733 | 0.0309 | 0.0177 | Wald ratio | 1 | cis | NA |
| Thalamus volume | 37.5 | 16.6 | 0.0239 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: malignant melanoma | 0.151 | 0.0682 | 0.0267 | Wald ratio | 1 | cis | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0403 | 0.0195 | 0.0389 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K35 Acute appendicitis | -0.242 | 0.13 | 0.0623 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | 0.096 | 0.0528 | 0.069 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: arthritis (nos) | -0.175 | 0.0965 | 0.0698 | Wald ratio | 1 | cis | NA |
| …and 59 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
14 association rows across 10 traits (13 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 |
|---|---|---|---|---|---|
| Serum levels of protein PPT1 | 5e-150 | rs6600314 | 2 | GCST90090577 | no MR -> candidate analysis |
| Palmitoyl-protein thioesterase 1 levels | 5e-104 | rs1800205 | 3 | GCST90427718 | no MR -> candidate analysis |
| Blood protein levels | 1e-79 | rs4660387 | 1 | GCST006585 | no MR -> candidate analysis |
| Palmitoyl-protein thioesterase 1 levels (PPT1.9244.27.3) | 2e-46 | rs7533094 | 2 | GCST90242195 | no MR -> candidate analysis |
| Height | 2e-16 | rs12061777 | 1 | GCST90245848 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 4e-11 | rs3122430 | 1 | GCST90838669 | no MR -> candidate analysis |
| Platelet count | 2e-9 | rs3122424 | 1 | GCST90002402 | no MR -> candidate analysis |
| Total PHF-tau (SNP x SNP interaction) | 1e-8 | rs12118846 x rs41497049 | 1 | GCST010340 | no MR -> candidate analysis |
| Body size or adipose distribution (multivariate analysis) | 2e-8 | rs6600317 | 1 | GCST90624105 | no MR -> candidate analysis |
| Refractive error | 5e-8 | rs6672277 | 1 | GCST90841196 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 2312 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 |
|---|---|---|---|---|
| neuronal ceroid lipofuscinosis 1 | 0.969 | — | established (curated) | no MR -> candidate analysis |
| neuronal ceroid lipofuscinosis | 0.894 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.875 | — | established (curated) | no MR -> candidate analysis |
| retinitis pigmentosa | 0.699 | — | established (curated) | no MR -> candidate analysis |
| juvenile neuronal ceroid lipofuscinosis 1 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| adult neuronal ceroid lipofuscinosis 1 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| infantile neuronal ceroid lipofuscinosis 1 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| late infantile neuronal ceroid lipofuscinosis 1 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 0.559 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the nervous system | 0.438 | — | established (curated) | no MR -> candidate analysis |
| spastic ataxia | 0.438 | — | established (curated) | no MR -> candidate analysis |
| streptococcal infection | 0.337 | — | common-variant locus | no MR -> candidate analysis |
| Intellectual disability | 0.228 | — | established (curated) | no MR -> candidate analysis |
Of the 13 rows above, 13 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 (Palmitoyl-protein thioesterase 1) |
| gnomAD constraint | pLI=0.0003, LOEUF=0.766 — LoF-tolerant |
| GWAS Catalog | 27 unique SNPs / 54 rows |
| ClinVar | 800 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 2312 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 ‘PPT1’ and resolved to ‘Palmitoyl-protein thioesterase 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 800 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 10 of 10 traits by best p-value, aggregated from 14 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/P50897 — 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/ENSG00000131238/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2331051/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PPT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PPT1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PPT1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PPT1 — GWAS Catalog search API (live; release not exposed)