CausalSentinel

Protein Dossier — KDELC2 (Protein O-glucosyltransferase 3)

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: uterine fibroids	-0.398	0.0686	6.85e-09	Wald ratio	1	cis	0.99
Diagnoses - main ICD10: D25 Leiomyoma of uterus	-0.37	0.073	3.90e-07	Wald ratio	1	cis	NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis)	0.152	0.0322	2.29e-06	Wald ratio	1	cis	NA
Cancer code self-reported: prostate cancer	-0.303	0.0908	8.50e-04	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: chronic obstructive airways disease or copd	0.25	0.0762	0.00104	Wald ratio	1	cis	NA
Primary sclerosing cholangitis	-0.235	0.0792	0.00297	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: hiatus hernia	0.0956	0.0339	0.0048	Wald ratio	1	cis	NA
Diastolic blood pressure automated reading	-0.0163	0.00579	0.00493	Wald ratio	1	cis	NA
Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal	-0.153	0.0561	0.00633	Wald ratio	1	cis	NA
Diagnoses - main ICD10: C61 Malignant neoplasm of prostate	-0.237	0.0891	0.00782	Wald ratio	1	cis	NA
Cancer code self-reported: malignant melanoma	-0.199	0.0792	0.0119	Wald ratio	1	cis	NA
High grade serous ovarian cancer	0.0976	0.0407	0.0166	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 93 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
Abnormality of the skeletal system	0.867	—	common-variant locus	no MR -> candidate analysis
prostate carcinoma	0.818	—	common-variant locus	no MR -> candidate analysis
uterine corpus leiomyoma	0.81	—	common-variant locus	no MR -> candidate analysis
Uterine leiomyoma	0.723	—	common-variant locus	no MR -> candidate analysis
clonal hematopoiesis	0.662	—	common-variant locus	no MR -> candidate analysis
renal carcinoma	0.644	—	common-variant locus	no MR -> candidate analysis
benign colon neoplasm	0.58	—	common-variant locus	MR: beta=-0.153, p=0.00633 (cis)
cancer	0.563	—	common-variant locus	MR: beta=-0.398, p=6.85e-09 (cis)
renal cell carcinoma	0.565	—	common-variant locus	no MR -> candidate analysis
clear cell renal carcinoma	0.568	—	common-variant locus	no MR -> candidate analysis
prostate cancer	0.538	—	common-variant locus	MR: beta=-0.303, p=8.50e-04 (cis)
estrogen-receptor negative breast cancer	0.487	—	common-variant locus	no MR -> candidate analysis
hematopoietic and lymphoid cell neoplasm	0.482	—	common-variant locus	no MR -> candidate analysis
uterine benign neoplasm	0.411	—	common-variant locus	no MR -> candidate analysis
breast carcinoma	0.373	—	common-variant locus	no MR -> candidate analysis

Of the 15 rows above, 12 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 93 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 ‘KDELC2’.
• 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/Q7Z4H8 — 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/ENSG00000178202/associations — Open Targets data release 26.06

Provenance

• Generated: 2026-08-14T03:20:44 · 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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