CausalSentinel

Protein Dossier — FAM189A2 (Endosomal transmembrane epsin interactor 1)

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
Diagnoses - main ICD10: R14 Flatulence and related conditions	0.529	0.152	5.28e-04	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: R14 Flatulence and related conditions	0.529	0.152	5.28e-04	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal	0.132	0.0449	0.00335	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal	0.132	0.0449	0.00335	Inverse variance weighted	2	trans	NA
Potassium in urine	-0.0175	0.00614	0.00433	Inverse variance weighted	2	trans	NA
Potassium in urine	-0.0175	0.00614	0.00433	Inverse variance weighted	2	trans	NA
Alcohol intake frequency	0.0243	0.00895	0.00655	Inverse variance weighted	2	trans	NA
Alcohol intake frequency	0.0243	0.00895	0.00655	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast	-0.139	0.0545	0.0107	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast	-0.139	0.0545	0.0107	Inverse variance weighted	2	trans	NA
Schizophrenia	-0.0568	0.0257	0.027	Inverse variance weighted	2	trans	NA
Schizophrenia	-0.0568	0.0257	0.027	Inverse variance weighted	2	trans	NA
…and 167 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 66 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
atrial fibrillation	0.576	—	common-variant locus	no MR -> candidate analysis
benign prostatic hyperplasia	0.484	—	common-variant locus	no MR -> candidate analysis
dislocation	0.44	—	common-variant locus	no MR -> candidate analysis
inflammatory bowel disease	0.44	—	common-variant locus	no MR -> candidate analysis
systemic lupus erythematosus	0.164	—	common-variant locus	no MR -> candidate analysis
intelligence	0.123	—	common-variant locus	MR: beta=0.0524, p=0.108 (trans)
connective tissue disorder	0.094	—	common-variant locus	no MR -> candidate analysis
schizophrenia	0.078	—	common-variant locus	MR: beta=-0.0568, p=0.027 (trans)
mathematical ability	0.073	—	common-variant locus	no MR -> candidate analysis
alcohol drinking	0.039	—	common-variant locus	no MR -> candidate analysis
urolithiasis	0.039	—	common-variant locus	no MR -> candidate analysis
drug allergy	0.038	—	common-variant locus	no MR -> candidate analysis

Of the 12 rows above, 10 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	1 unique SNPs / 2 rows
ClinVar	1 records; 0 pathogenic in sample of 1
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 66 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 ‘FAM189A2’.
• gnomad — No gnomAD constraint data.
• clinvar — Pathogenic count is over the 1 record(s) retrieved, NOT over all 1 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/Q15884 — 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/ENSG00000135063/associations — Open Targets data release 26.06
• gwas: https://www.ebi.ac.uk/gwas/genes/FAM189A2 — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FAM189A2%5Bgene%5D — ClinVar build Build260809-1055.1

Provenance

• Generated: 2026-08-14T02:34:07 · 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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