CausalSentinel

Protein Dossier — PTGDS (Prostaglandin-H2 D-isomerase)

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
Non-cancer illness code self-reported: mania or bipolar disorder or manic depression	0.503	0.148	7.02e-04	Wald ratio	1	cis	NA
Putamen volume	-91.5	32.4	0.00469	Wald ratio	1	cis	NA
Depressive symptoms	0.0556	0.0202	0.00596	Wald ratio	1	cis	NA
Large vessel disease	-0.532	0.199	0.00743	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: enlarged prostate	0.189	0.0871	0.0303	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: psoriasis	0.201	0.0949	0.0347	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: depression	-0.117	0.0567	0.0385	Wald ratio	1	cis	NA
Cigarettes smoked per day	-1.54	0.764	0.0438	Wald ratio	1	cis	NA
Cough on most days	-0.142	0.0725	0.0498	Wald ratio	1	cis	NA
HDL cholesterol	0.0374	0.0197	0.0578	Wald ratio	1	cis	NA
Creatinine (enzymatic) in urine	-0.0219	0.0117	0.0602	Wald ratio	1	cis	NA
Ischemic stroke	-0.159	0.0904	0.0794	Wald ratio	1	cis	NA
…and 94 more outcomes (see JSON)

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

No GWAS Catalog associations mapped to this gene.

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 467 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
keratoconus	0.525	—	common-variant locus	no MR -> candidate analysis

Of the 1 rows above, 1 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	1 known modulators (Prostaglandin-H2 D-isomerase)
gnomAD constraint	pLI=4.3e-06, LOEUF=1.07 — LoF-tolerant
GWAS Catalog	85 unique SNPs / 174 rows
ClinVar	129 records; 6 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 467 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 ‘PTGDS’ and resolved to ‘Prostaglandin-H2 D-isomerase’ — confirm this is the intended target.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 129 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 — No GWAS Catalog associations mapped to this gene.

Sources

• uniprot: https://www.uniprot.org/uniprotkb/P41222 — 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 v3.0
• phenome: https://platform.opentargets.org/target/ENSG00000107317/associations — Open Targets data release 26.06
• chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3430865/ — ChEMBL_37 (released 2026-05-01)
• gnomad: https://gnomad.broadinstitute.org/gene/PTGDS — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/PTGDS — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PTGDS%5Bgene%5D — ClinVar build Build260809-1055.1

Provenance

• Generated: 2026-08-14T04:40:43 · 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

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