CausalSentinel

Protein Dossier — IGLL1 (Immunoglobulin lambda-like polypeptide 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
Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm)	0.995	0.235	2.19e-05	Inverse variance weighted	3	trans	NA
Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm)	0.995	0.235	2.19e-05	Inverse variance weighted	3	cis	NA
Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm)	0.995	0.235	2.19e-05	Inverse variance weighted	3	trans	NA
Diagnoses - main ICD10: G47 Sleep disorders	0.226	0.0717	0.00163	Inverse variance weighted	3	trans	NA
Diagnoses - main ICD10: G47 Sleep disorders	0.226	0.0717	0.00163	Inverse variance weighted	3	cis	NA
Diagnoses - main ICD10: G47 Sleep disorders	0.226	0.0717	0.00163	Inverse variance weighted	3	trans	NA
Non-cancer illness code self-reported: pernicious anaemia	0.285	0.096	0.00297	Inverse variance weighted	3	trans	NA
Non-cancer illness code self-reported: pernicious anaemia	0.285	0.096	0.00297	Inverse variance weighted	3	cis	NA
Non-cancer illness code self-reported: pernicious anaemia	0.285	0.096	0.00297	Inverse variance weighted	3	trans	NA
Total cholesterol	-0.0625	0.024	0.00933	Inverse variance weighted	2	trans	NA
Total cholesterol	-0.0625	0.024	0.00933	Inverse variance weighted	2	trans	NA
Haemoglobin concentration	0.0624	0.0278	0.0248	Inverse variance weighted	2	trans	NA
…and 246 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

17 association rows across 12 traits (13 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.

Trait	best p	lead SNP	n assoc	study	MR status
Immunoglobulin lambda-like polypeptide 1 levels	1e-98	rs9624216	3	GCST90248019	no MR -> candidate analysis
Serum levels of protein IGLL1	7e-65	rs9624216	2	GCST90089456	no MR -> candidate analysis
GSTT2B protein levels	2e-35	rs9624220	1	GCST90469415	no MR -> candidate analysis
Immunoglobulin lambda-like polypeptide 1 levels (IGLL1.6485.	1e-25	rs139571703	3	GCST90241473	no MR -> candidate analysis
Blood protein levels	4e-25	rs140174	1	GCST006585	no MR -> candidate analysis
Neuroendocrine tumors (PheCode 209)	4e-11	rs551382130	1	GCST90479836	no MR -> candidate analysis
Free Cholesterol to Cholesteryl Esters in Very Large HDL rat	2e-9	rs11703959	1	GCST90828013	no MR -> candidate analysis
RBC levels of Sorbitol	3e-8	rs78933561	1	GCST90267522	no MR -> candidate analysis
HOMA-B (corrected for HOMA-IR)	3e-7	rs131409	1	GCST010724	no MR -> candidate analysis
Peripheral artery disease	6e-6	rs131408	1	GCST002504	no MR -> candidate analysis
1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) levels in elite a	7e-6	rs5996577	1	GCST90133717	no MR -> candidate analysis
Migraine	8e-6	rs140174	1	GCST001019	MR: beta=0.0693, p=0.173 (trans)

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 97 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
isolated agammaglobulinemia	0.556	—	established (curated)	no MR -> candidate analysis
autosomal agammaglobulinemia	0.608	—	established (curated)	no MR -> candidate analysis
Abnormality of the skeletal system	0.218	—	common-variant locus	no MR -> candidate analysis
benign neoplasm	0.204	—	common-variant locus	MR: beta=-0.0718, p=0.25 (trans)
Splenomegaly	0.203	—	common-variant locus	no MR -> candidate analysis
crush injury	0.154	—	common-variant locus	no MR -> candidate analysis
Alzheimer disease	0.137	—	common-variant locus	no MR -> candidate analysis
neuroendocrine neoplasm	0.105	—	common-variant locus	no MR -> candidate analysis
Hodgkins lymphoma	0.079	—	common-variant locus	no MR -> candidate analysis
device complication	0.077	—	common-variant locus	no MR -> candidate analysis
stomach disorder	0.074	—	common-variant locus	no MR -> candidate analysis
male infertility	0.074	—	common-variant locus	no MR -> candidate analysis

Of the 12 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	pLI=0.00033, LOEUF=1.62 — LoF-tolerant
GWAS Catalog	25 unique SNPs / 50 rows
ClinVar	389 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 97 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 ‘IGLL1’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 389 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 — Top 12 of 12 traits by best p-value, aggregated from 17 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.

Sources

• uniprot: https://www.uniprot.org/uniprotkb/P15814 — 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/ENSG00000128322/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/IGLL1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/IGLL1 — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IGLL1%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/IGLL1 — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T03:09:35 · 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.