CausalSentinel

Protein Dossier — IMPAD1 (Golgi-resident adenosine 3’,5’-bisphosphate 3’-phosphatase)

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: psoriasis	0.168	0.0487	5.48e-04	Wald ratio	1	cis	NA
Diagnoses - main ICD10: I83 Varicose veins of lower extremities	0.101	0.0387	0.00919	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux	0.0688	0.0275	0.0123	Wald ratio	1	cis	NA
Fractured bone site(s): Other bones	-0.0714	0.0286	0.0125	Wald ratio	1	cis	NA
Diagnoses - main ICD10: N40 Hyperplasia of prostate	0.131	0.056	0.0194	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse	-0.219	0.105	0.0363	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: migraine	0.0674	0.0331	0.0414	Wald ratio	1	cis	NA
Creatinine (enzymatic) in urine	-0.0115	0.00585	0.0502	Wald ratio	1	cis	NA
Diagnoses - main ICD10: C61 Malignant neoplasm of prostate	0.129	0.0663	0.0525	Wald ratio	1	cis	NA
Diagnoses - main ICD10: M23 Internal derangement of knee	0.0727	0.0383	0.0574	Wald ratio	1	cis	NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level	0.384	0.208	0.0656	Wald ratio	1	cis	NA
Diagnoses - main ICD10: K20 Oesophagitis	-0.128	0.0706	0.0695	Wald ratio	1	cis	NA
…and 57 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 1718 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
chondrodysplasia with joint dislocations, gPAPP type	0.838	—	established (curated)	no MR -> candidate analysis
chronic kidney disease	0.515	—	common-variant locus	no MR -> candidate analysis
alcohol drinking	0.433	—	common-variant locus	no MR -> candidate analysis
rheumatoid arthritis	0.383	—	common-variant locus	no MR -> candidate analysis
placental abruption	0.378	—	common-variant locus	no MR -> candidate analysis
benign thyroid gland neoplasm	0.378	—	common-variant locus	no MR -> candidate analysis
bone remodeling disease	0.37	—	common-variant locus	no MR -> candidate analysis
breast disorder	0.357	—	common-variant locus	no MR -> candidate analysis
liver disorder	0.353	—	common-variant locus	no MR -> candidate analysis
adolescent idiopathic scoliosis	0.351	—	common-variant locus	no MR -> candidate analysis
stroke disorder	0.35	—	common-variant locus	no MR -> candidate analysis
ovarian neoplasm	0.347	—	common-variant locus	no MR -> candidate analysis
temporomandibular joint disorder	0.346	—	common-variant locus	no MR -> candidate analysis
placental retention	0.269	—	common-variant locus	no MR -> candidate analysis
connective tissue disorder	0.268	—	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.

5. Downstream annotation (druggability & safety preview)

Layer	Result
ChEMBL druggability	not available — no ChEMBL target (undrugged)
gnomAD constraint	not available
GWAS Catalog	no mapped SNPs
ClinVar	no records
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 1718 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 ‘IMPAD1’.
• gnomad — No gnomAD constraint data.
• gwas — No GWAS Catalog SNPs mapped to this gene.
• clinvar — No ClinVar records.
• 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/Q9NX62 — 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/ENSG00000104331/associations — Open Targets data release 26.06

Provenance

• Generated: 2026-08-14T03:17:05 · 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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