Protein Dossier — IDUA (Alpha-L-iduronidase)
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 |
| Systolic blood pressure automated reading |
-0.0189 |
0.00423 |
7.98e-06 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
-0.0157 |
0.00423 |
1.96e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.13 |
0.0446 |
0.00348 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
-0.012 |
0.00413 |
0.00351 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.0898 |
0.0319 |
0.00484 |
Wald ratio |
1 |
cis |
NA |
| Alzheimer’s disease |
0.0773 |
0.0276 |
0.00515 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Wrist |
-0.0897 |
0.0323 |
0.00542 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.00961 |
0.00365 |
0.00842 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0187 |
0.00717 |
0.00905 |
Wald ratio |
1 |
cis |
NA |
| Lumbar spine bone mineral density |
0.0388 |
0.0156 |
0.0129 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.0754 |
0.0312 |
0.0156 |
Wald ratio |
1 |
cis |
NA |
| Mean platelet volume |
-0.0528 |
0.0248 |
0.0335 |
Wald ratio |
1 |
cis |
NA |
| …and 67 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3169_70_2 |
IDUA |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
107 association rows across 55 traits (106 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 |
| Circulating IDUA levels |
1e-1969 |
rs3822020 |
7 |
GCST90859755 |
no MR -> candidate analysis |
| CTSZ/IDUA protein level ratio |
1e-1466 |
rs3796622 |
1 |
GCST90314319 |
no MR -> candidate analysis |
| IDUA protein levels |
6e-218 |
rs80086308 |
7 |
GCST90469508 |
no MR -> candidate analysis |
| Alpha-L-iduronidase levels |
2e-176 |
rs115134980 |
5 |
GCST90425629 |
no MR -> candidate analysis |
| Heel bone mineral density |
2e-152 |
rs150523349 |
3 |
GCST006433 |
no MR -> candidate analysis |
| Alpha-L-iduronidase levels (IDUA.3169.70.2) |
7e-148 |
rs3822020 |
4 |
GCST90240249 |
no MR -> candidate analysis |
| Estimated bone mineral density |
4e-94 |
rs2305489 |
1 |
GCST90726625 |
no MR -> candidate analysis |
| Standing height (UKB data field 50) |
8e-37 |
rs113289555 |
1 |
GCST90468178 |
no MR -> candidate analysis |
| Height |
2e-36 |
rs113289555 |
1 |
GCST90435412 |
no MR -> candidate analysis |
| Height (baseline) |
8e-33 |
rs113289555 |
2 |
GCST90565843 |
no MR -> candidate analysis |
| Body shape phenotype PC2 |
1e-28 |
rs113289555 |
1 |
GCST90832990 |
no MR -> candidate analysis |
| Physical function (baseline) |
4e-26 |
rs113289555 |
1 |
GCST90565837 |
no MR -> candidate analysis |
| …and 43 more traits (see JSON) |
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|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 5023 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 |
| Hurler syndrome |
0.937 |
— |
established (curated) |
no MR -> candidate analysis |
| Scheie syndrome |
0.923 |
— |
established (curated) |
no MR -> candidate analysis |
| Hurler-Scheie syndrome |
0.935 |
— |
established (curated) |
no MR -> candidate analysis |
| mucopolysaccharidosis type 1 |
0.968 |
— |
established (curated) |
no MR -> candidate analysis |
| mucopolysaccharidosis |
0.63 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.839 |
— |
established (curated) |
no MR -> candidate analysis |
| nephrolithiasis susceptibility caused by SLC26A1 |
0.822 |
— |
established (curated) |
no MR -> candidate analysis |
| nephrolithiasis, calcium oxalate |
0.754 |
— |
established (curated) |
no MR -> candidate analysis |
| calcium oxalate urolithiasis |
0.754 |
— |
established (curated) |
no MR -> candidate analysis |
| bone fracture |
0.744 |
— |
common-variant locus |
no MR -> candidate analysis |
| Interstitial pneumonitis |
0.699 |
— |
established (curated) |
no MR -> candidate analysis |
| hypersulfaturia |
0.678 |
— |
established (curated) |
no MR -> candidate analysis |
| upper extremity fracture |
0.588 |
— |
common-variant locus |
no MR -> candidate analysis |
| mucopolysaccharidosis type 4A |
0.559 |
— |
established (curated) |
no MR -> candidate analysis |
| Parkinson disease |
0.505 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 15 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 (Alpha-L-iduronidase) |
| gnomAD constraint |
pLI=2.7e-21, LOEUF=1.16 — LoF-tolerant |
| GWAS Catalog |
146 unique SNPs / 368 rows |
| ClinVar |
2680 records; 17 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 5023 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 ‘IDUA’ and resolved to ‘Alpha-L-iduronidase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 2680 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 20 of 55 traits by best p-value, aggregated from 107 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/P35475 — 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 v3.0phenome: https://platform.opentargets.org/target/ENSG00000127415/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5169131/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IDUA — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IDUA — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IDUA%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/IDUA — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:05:51 · 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