Protein Dossier — PPBP (Platelet basic protein)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Height |
-0.0901 |
0.0197 |
4.84e-06 |
Wald ratio |
1 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.039 |
0.0116 |
7.66e-04 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: pernicious anaemia |
0.44 |
0.174 |
0.0113 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hiatus hernia |
-0.312 |
0.129 |
0.0158 |
Wald ratio |
1 |
trans |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.109 |
0.0451 |
0.0158 |
Wald ratio |
1 |
trans |
NA |
| Mean cell haemoglobin concentration |
-0.0501 |
0.0208 |
0.0162 |
Wald ratio |
1 |
trans |
NA |
| Subjective well being |
0.0394 |
0.0169 |
0.0196 |
Wald ratio |
1 |
trans |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.0422 |
0.0183 |
0.0208 |
Wald ratio |
1 |
trans |
NA |
| Hearing difficulty or problems: Yes |
0.0499 |
0.0232 |
0.0314 |
Wald ratio |
1 |
trans |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.146 |
0.0693 |
0.0352 |
Wald ratio |
1 |
trans |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0256 |
0.0122 |
0.0362 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: arthritis (nos) |
0.265 |
0.127 |
0.0376 |
Wald ratio |
1 |
trans |
NA |
| …and 92 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2790_54_2 |
NAP-2 |
Suhre K |
2019 |
prot-c-4544_4_3 |
CTAP-III |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
78 association rows across 66 traits (73 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 |
| C-X-C motif chemokine 5 levels |
8e-172 |
rs450373 |
2 |
GCST90274782 |
no MR -> candidate analysis |
| Blood protein levels |
5e-119 |
rs450373 |
12 |
GCST006585 |
no MR -> candidate analysis |
| PPBP protein levels |
5e-45 |
rs202224981 |
1 |
GCST90470289 |
no MR -> candidate analysis |
| Albumin levels |
1e-36 |
rs184650103 |
1 |
GCST90132699 |
no MR -> candidate analysis |
| CXCL6 protein levels |
3e-26 |
rs73824600 |
1 |
GCST90468933 |
no MR -> candidate analysis |
| Serum levels of protein HMP19 |
8e-26 |
rs3756074 |
1 |
GCST90087426 |
no MR -> candidate analysis |
| Annexin A6 levels |
1e-24 |
rs3756074 |
1 |
GCST90246525 |
no MR -> candidate analysis |
| Serum levels of protein BMP4 |
9e-23 |
rs3756074 |
1 |
GCST90089352 |
no MR -> candidate analysis |
| BGN protein levels |
2e-22 |
rs3756074 |
1 |
GCST90468441 |
no MR -> candidate analysis |
| Serum levels of protein SETD2 |
1e-21 |
rs3756074 |
1 |
GCST90087122 |
no MR -> candidate analysis |
| Serum levels of protein FAM174B |
1e-21 |
rs3756074 |
1 |
GCST90090475 |
no MR -> candidate analysis |
| Chymotrypsin-C levels |
6e-20 |
rs3756074 |
1 |
GCST90247186 |
no MR -> candidate analysis |
| …and 54 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 578 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 |
| injury |
0.075 |
— |
common-variant locus |
no MR -> candidate analysis |
| phosphorus metabolism disease |
0.075 |
— |
common-variant locus |
no MR -> candidate analysis |
| acute cystitis |
0.075 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 rows above, 3 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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.0013, LOEUF=1.75 — LoF-tolerant |
| GWAS Catalog |
87 unique SNPs / 174 rows |
| ClinVar |
40 records; 14 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 578 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 ‘PPBP’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 40 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 66 traits by best p-value, aggregated from 78 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P02775 — 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/ENSG00000163736/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PPBP — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PPBP — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PPBP%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PPBP — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:33:41 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none