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: R55 Syncope and collapse | 0.128 | 0.042 | 0.00229 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | 0.0128 | 0.00449 | 0.00427 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.133 | 0.0548 | 0.0152 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: retinal detachment | -0.237 | 0.1 | 0.0184 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | -0.0819 | 0.0351 | 0.0198 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I84 Haemorrhoids | 0.0603 | 0.0272 | 0.0266 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | 0.0659 | 0.0299 | 0.0275 | Wald ratio | 1 | cis | NA |
| Depressive symptoms | -0.0178 | 0.00808 | 0.0278 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.0936 | 0.0426 | 0.0281 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: psoriasis | 0.0853 | 0.0389 | 0.0282 | Wald ratio | 1 | cis | NA |
| Fracture resulting from simple fall | 0.0249 | 0.0115 | 0.0308 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M54 Dorsalgia | 0.068 | 0.0326 | 0.0369 | Wald ratio | 1 | cis | NA |
| …and 73 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
74 association rows across 46 traits (58 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 |
|---|---|---|---|---|---|
| Circulating GRN levels | 2e-237 | rs12248615 | 1 | GCST90859928 | no MR -> candidate analysis |
| PSAP protein levels | 1e-202 | rs12253310 | 3 | GCST90470351 | no MR -> candidate analysis |
| Serum levels of protein PSAP | 1e-195 | rs7899959 | 3 | GCST90089295 | no MR -> candidate analysis |
| Leukocyte immunoglobulin-like receptor subfamily B member 4 | 1e-188 | rs55688436 | 3 | GCST90248304 | no MR -> candidate analysis |
| Serum levels of protein LILRB4 | 8e-180 | rs41306532 | 3 | GCST90089435 | no MR -> candidate analysis |
| Prosaposin levels | 5e-165 | rs2394843 | 4 | GCST90249117 | no MR -> candidate analysis |
| Blood protein levels | 4e-122 | rs7086891 | 2 | GCST006585 | no MR -> candidate analysis |
| Granulins levels | 2e-83 | rs4747203 | 4 | GCST90247801 | no MR -> candidate analysis |
| GRN protein levels | 6e-76 | rs11000064 | 3 | GCST90469404 | no MR -> candidate analysis |
| CD83 protein levels | 6e-41 | rs7869 | 2 | GCST90468652 | no MR -> candidate analysis |
| Circulating CD83 levels (id: OID00841_OID20565) | 2e-40 | rs55688436 | 1 | GCST90860166 | no MR -> candidate analysis |
| VSIR protein levels | 7e-40 | rs11000044 | 4 | GCST90471053 | no MR -> candidate analysis |
| …and 34 more traits (see JSON) |
Top diseases by Open Targets association (of 3582 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 |
|---|---|---|---|---|
| Gaucher disease due to saposin C deficiency | 0.84 | — | established (curated) | no MR -> candidate analysis |
| Krabbe disease due to saposin A deficiency | 0.821 | — | established (curated) | no MR -> candidate analysis |
| combined PSAP deficiency | 0.849 | — | established (curated) | no MR -> candidate analysis |
| Krabbe disease | 0.875 | — | established (curated) | no MR -> candidate analysis |
| Parkinson disease | 0.547 | — | established (curated) | no MR -> candidate analysis |
| metachromatic leukodystrophy | 0.941 | — | established (curated) | no MR -> candidate analysis |
| Gaucher disease | 0.608 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.743 | — | established (curated) | no MR -> candidate analysis |
| metachromatic leukodystrophy, juvenile form | 0.608 | — | established (curated) | no MR -> candidate analysis |
| metachromatic leukodystrophy, late infantile form | 0.608 | — | established (curated) | no MR -> candidate analysis |
| metachromatic leukodystrophy, adult form | 0.608 | — | established (curated) | no MR -> candidate analysis |
| infantile Krabbe disease | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Hereditary late-onset Parkinson disease | 0.547 | — | established (curated) | no MR -> candidate analysis |
| late-onset Parkinson disease | 0.547 | — | established (curated) | no MR -> candidate analysis |
| pericarditis | 0.406 | — | common-variant locus | MR: beta=-0.273, p=0.499 (cis) |
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 (Prosaposin) |
| gnomAD constraint | pLI=0.83, LOEUF=0.529 — LoF-tolerant |
| GWAS Catalog | 112 unique SNPs / 222 rows |
| ClinVar | 1031 records; 13 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 3582 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 ‘PSAP’ and resolved to ‘Prosaposin’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 1031 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 46 traits by best p-value, aggregated from 74 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/P07602 — 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/ENSG00000197746/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3580523/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PSAP — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PSAP — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PSAP%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PSAP — GWAS Catalog search API (live; release not exposed)