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 |
|---|---|---|---|---|---|---|---|
| Anorexia nervosa | 0.21 | 0.0801 | 0.00862 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | -0.163 | 0.063 | 0.00956 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.13 | 0.0517 | 0.0121 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | -0.12 | 0.0485 | 0.0132 | Wald ratio | 1 | cis | NA |
| Knee and hip osteoarthritis | 0.123 | 0.0523 | 0.0182 | Wald ratio | 1 | cis | NA |
| HbA1C | 0.0193 | 0.00839 | 0.0212 | Wald ratio | 1 | cis | NA |
| Thyroid cancer | -0.485 | 0.214 | 0.0238 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | -0.0187 | 0.00833 | 0.0247 | Wald ratio | 1 | cis | NA |
| Knee osteoarthritis | 0.14 | 0.0644 | 0.0294 | Wald ratio | 1 | cis | NA |
| Amyotrophic lateral sclerosis | -0.0859 | 0.0425 | 0.0432 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine | -0.0825 | 0.0432 | 0.056 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | 0.077 | 0.0409 | 0.0596 | Wald ratio | 1 | cis | NA |
| …and 92 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
11 association rows across 7 traits (11 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 |
|---|---|---|---|---|---|
| PSAPL1 protein levels | 3e-303 | rs56269914 | 3 | GCST90470350 | no MR -> candidate analysis |
| Proactivator polypeptide-like 1 levels | 7e-191 | rs58274198 | 2 | GCST90249429 | no MR -> candidate analysis |
| Serum levels of protein PSAPL1 | 4e-110 | rs74563302 | 1 | GCST90090315 | no MR -> candidate analysis |
| Proactivator polypeptide-like 1 levels (PSAPL1.8814.33.3) | 3e-71 | rs10023470 | 1 | GCST90242354 | no MR -> candidate analysis |
| CDSN protein levels | 8e-35 | rs75278193 | 1 | GCST90468688 | no MR -> candidate analysis |
| Circulating CDSN levels | 1e-26 | rs6850206 | 2 | GCST90860191 | no MR -> candidate analysis |
| Cerebrospinal fluid protein PSAPL1 levels | 2e-10 | rs58448418 | 1 | GCST90943787 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 51 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 |
|---|---|---|---|---|
| arthropathy | 0.567 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.399 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.33 | — | common-variant locus | no MR -> candidate analysis |
| nephrotic syndrome | 0.203 | — | common-variant locus | no MR -> candidate analysis |
| bone Paget disease | 0.203 | — | common-variant locus | no MR -> candidate analysis |
| tooth disorder | 0.203 | — | common-variant locus | no MR -> candidate analysis |
| spinal cord injury | 0.195 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative colitis | 0.169 | — | common-variant locus | no MR -> candidate analysis |
| ileostomy | 0.169 | — | common-variant locus | no MR -> candidate analysis |
| pathological myopia | 0.16 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.127 | — | common-variant locus | no MR -> candidate analysis |
| response to xenobiotic stimulus | 0.123 | — | common-variant locus | no MR -> candidate analysis |
| poisoning | 0.123 | — | common-variant locus | no MR -> candidate analysis |
| gastritis | 0.104 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.078 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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=NA, LOEUF=NA — Constraint metrics missing; LoF tolerance cannot be judged. |
| GWAS Catalog | 100 unique SNPs / 192 rows |
| ClinVar | 224 records; 7 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 51 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 ‘PSAPL1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 224 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 7 of 7 traits by best p-value, aggregated from 11 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/Q6NUJ1 — 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/ENSG00000178597/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PSAPL1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PSAPL1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PSAPL1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PSAPL1 — GWAS Catalog search API (live; release not exposed)