CausalSentinel

Protein Dossier — FAM213A (Peroxiredoxin-like 2A)

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
Heel bone mineral density (BMD) T-score automated	-0.074	0.0168	1.04e-05	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: hypopituitarism	1.09	0.257	2.32e-05	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: asthma	0.11	0.0326	6.90e-04	Wald ratio	1	cis	NA
Urate	0.0905	0.0293	0.002	Wald ratio	1	cis	NA
Forced vital capacity (FVC)	0.0325	0.0106	0.00223	Wald ratio	1	cis	NA
Fractured or broken bones in last 5 years	0.102	0.0366	0.00516	Wald ratio	1	cis	NA
Fractured bone site(s): Arm	0.278	0.1	0.00534	Wald ratio	1	cis	NA
Sleep duration	-0.0269	0.0101	0.00784	Wald ratio	1	cis	NA
Diagnoses - main ICD10: K35 Acute appendicitis	0.354	0.134	0.00808	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: osteoporosis	0.212	0.0849	0.0127	Wald ratio	1	cis	NA
Platelet count	5.18	2.16	0.0163	Wald ratio	1	cis	NA
Alcohol intake frequency	0.046	0.0192	0.0164	Wald ratio	1	cis	NA
…and 100 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 102 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
kidney failure	0.497	—	common-variant locus	no MR -> candidate analysis
sunburn	0.342	—	common-variant locus	no MR -> candidate analysis
hypertensive disorder	0.318	—	common-variant locus	no MR -> candidate analysis
exfoliation syndrome	0.147	—	common-variant locus	no MR -> candidate analysis
heart failure	0.144	—	common-variant locus	no MR -> candidate analysis
glaucoma	0.119	—	common-variant locus	MR: beta=-0.134, p=0.288 (cis)
open-angle glaucoma	0.092	—	common-variant locus	no MR -> candidate analysis

Of the 7 rows above, 6 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	0 known modulators (Peroxiredoxin-like 2A)
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 102 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 ‘FAM213A’ and resolved to ‘Peroxiredoxin-like 2A’ — confirm this is the intended target.
• 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/Q9BRX8 — 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/ENSG00000122378/associations — Open Targets data release 26.06
• chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3879824/ — ChEMBL_37 (released 2026-05-01)

Provenance

• Generated: 2026-08-14T02:34:34 · 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

This site is open source. Improve this page.