CausalSentinel

Protein Dossier — KIAA1161 (Alpha-galactosidase MYORG)

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: hayfever or allergic rhinitis	0.104	0.03	5.38e-04	Wald ratio	1	cis	NA
Systolic blood pressure automated reading	-0.0266	0.00829	0.00132	Wald ratio	1	cis	NA
Weight	-0.0213	0.00715	0.00295	Wald ratio	1	cis	NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis)	-0.0613	0.0208	0.00315	Wald ratio	1	cis	NA
Diagnoses - main ICD10: C61 Malignant neoplasm of prostate	0.218	0.0805	0.00685	Wald ratio	1	cis	NA
ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis)	-0.0659	0.0247	0.00756	Wald ratio	1	cis	NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis)	-0.0967	0.0376	0.0102	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: iron deficiency anaemia	0.213	0.0905	0.0184	Wald ratio	1	cis	NA
Body mass index (BMI)	-0.0182	0.0081	0.0243	Wald ratio	1	cis	NA
Diastolic blood pressure automated reading	-0.0186	0.00829	0.0251	Wald ratio	1	cis	NA
Amyotrophic lateral sclerosis	0.129	0.0591	0.0292	Wald ratio	1	cis	NA
Heel bone mineral density (BMD) T-score automated	-0.0222	0.0105	0.0344	Wald ratio	1	cis	NA
…and 70 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 78 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
bilateral striopallidodentate calcinosis	0.925	—	established (curated)	no MR -> candidate analysis
Abnormality of the skeletal system	0.767	—	common-variant locus	no MR -> candidate analysis
Basal ganglia calcification	0.438	—	established (curated)	no MR -> candidate analysis
hereditary disease	0.243	—	established (curated)	no MR -> candidate analysis
Dysarthria	0.195	—	established (curated)	no MR -> candidate analysis
osteoarthritis, knee	0.195	—	common-variant locus	no MR -> candidate analysis
total joint arthroplasty	0.195	—	common-variant locus	no MR -> candidate analysis
osteoarthritis, hip	0.195	—	common-variant locus	no MR -> candidate analysis
type 2 diabetes mellitus	0.073	—	common-variant locus	no MR -> candidate analysis
diabetes mellitus	0.054	—	common-variant locus	no MR -> candidate analysis
metabolic syndrome	0.047	—	common-variant locus	no MR -> candidate analysis

Of the 11 rows above, 11 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 78 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 ‘KIAA1161’.
• 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/Q6NSJ0 — 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/ENSG00000164976/associations — Open Targets data release 26.06

Provenance

• Generated: 2026-08-14T03:21:11 · 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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