CausalSentinel

Protein Dossier — APOF (Apolipoprotein F)

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	-0.143	0.0184	6.36e-15	Wald ratio	1	cis	NA
Forced vital capacity (FVC)	-0.0656	0.0122	8.33e-08	Wald ratio	1	cis	NA
Myocardial infarction	0.295	0.071	3.28e-05	Wald ratio	1	cis	NA
Coronary heart disease	0.251	0.0611	3.94e-05	Wald ratio	1	cis	NA
Forced expiratory volume in 1-second (FEV1)	-0.0504	0.0129	9.55e-05	Wald ratio	1	cis	NA
Autism	0.528	0.194	0.00656	Wald ratio	1	cis	NA
Weight	-0.0354	0.0132	0.00712	Wald ratio	1	cis	NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level	0.881	0.334	0.00832	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: enlarged prostate	0.23	0.103	0.0253	Wald ratio	1	cis	NA
Serum creatinine (eGFRcrea)	0.0125	0.00561	0.0263	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: psoriasis	-0.748	0.339	0.0272	Wald ratio	1	cis	NA
HOMA-B	-0.0467	0.0218	0.0321	Wald ratio	1	cis	NA
…and 75 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 189 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
psoriasis	0.268	—	common-variant locus	MR: beta=-0.748, p=0.0272 (cis)
psoriasis vulgaris	0.155	—	common-variant locus	no MR -> candidate analysis
skin disorder	0.116	—	common-variant locus	no MR -> candidate analysis
type 2 diabetes mellitus	0.089	—	common-variant locus	no MR -> candidate analysis
coronary artery disorder	0.083	—	common-variant locus	no MR -> candidate analysis

Of the 5 rows above, 4 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=0.11, LOEUF=2.61 — LoF-tolerant
GWAS Catalog	54 unique SNPs / 108 rows
ClinVar	55 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 189 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 ‘APOF’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 55 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/Q13790 — 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/ENSG00000175336/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/APOF — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/APOF — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=APOF%5Bgene%5D — ClinVar build Build260809-1055.1

Provenance

• Generated: 2026-08-14T01:08:20 · 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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