Protein Dossier — CAT (Catalase)
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 |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.152 |
0.06 |
0.0113 |
Wald ratio |
1 |
cis |
NA |
| Ischemic stroke |
-0.0918 |
0.0374 |
0.0141 |
Wald ratio |
1 |
cis |
NA |
| Neo-openness to experience |
-0.318 |
0.162 |
0.049 |
Wald ratio |
1 |
cis |
NA |
| Pulse rate |
0.0189 |
0.01 |
0.0589 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
0.135 |
0.0715 |
0.0592 |
Wald ratio |
1 |
cis |
NA |
| Cardioembolic stroke |
-0.139 |
0.0736 |
0.0593 |
Wald ratio |
1 |
cis |
NA |
| Large vessel disease |
-0.145 |
0.0795 |
0.068 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: arthritis (nos) |
-0.136 |
0.0752 |
0.0708 |
Wald ratio |
1 |
cis |
NA |
| Neuroticism |
0.0176 |
0.00979 |
0.0719 |
Wald ratio |
1 |
cis |
NA |
| Years of schooling |
0.0176 |
0.00979 |
0.0719 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast |
-0.0871 |
0.0484 |
0.0721 |
Wald ratio |
1 |
cis |
NA |
| Hirschsprung’s disease |
0.446 |
0.25 |
0.0739 |
Wald ratio |
1 |
cis |
NA |
| …and 87 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3488_64_2 |
Catalase |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
16 association rows across 8 traits (14 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 |
| CAT protein levels |
7e-117 |
rs7113917 |
4 |
GCST90468551 |
no MR -> candidate analysis |
| Catalase levels |
8e-80 |
rs769218 |
5 |
GCST90246842 |
no MR -> candidate analysis |
| Core binding factor acute myeloid leukemia |
2e-25 |
rs12786782; rs10768074; rs11032686; rs7111765; rs11032695; rs16925514; rs6484720; rs12295136; rs208681; rs7944397; rs208682; rs208683; rs12807961; rs12808450; rs554518; rs1107573 |
2 |
GCST008413 |
no MR -> candidate analysis |
| Type 2 diabetes |
9e-25 |
rs1001179 |
1 |
GCST90134620 |
MR: beta=0.151, p=0.294 (cis) |
| Blood protein levels |
1e-20 |
rs7933285 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Major depressive disorder or hospitalized COVID-19 (pleiotro |
3e-9 |
rs7118388 |
1 |
GCST90296444 |
no MR -> candidate analysis |
| Eugenol sulfate levels in elite athletes |
4e-6 |
rs16925614 |
1 |
GCST90134213 |
no MR -> candidate analysis |
| COVID-19 (hospitalized covid vs population) |
5e-6 |
rs1001179 |
1 |
GCST90454507 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1561 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 |
| acatalasia |
0.75 |
— |
established (curated) |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.553 |
— |
common-variant locus |
no MR -> candidate analysis |
| COVID-19 |
0.421 |
— |
common-variant locus |
no MR -> candidate analysis |
| major depressive disorder |
0.386 |
— |
common-variant locus |
no MR -> candidate analysis |
| narcolepsy |
0.362 |
— |
common-variant locus |
no MR -> candidate analysis |
| Intellectual disability |
0.198 |
— |
established (curated) |
no MR -> candidate analysis |
| vitiligo |
0.034 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 7 rows above, 7 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 (Catalase) |
| gnomAD constraint |
pLI=3.8e-11, LOEUF=0.94 — LoF-tolerant |
| GWAS Catalog |
68 unique SNPs / 135 rows |
| ClinVar |
113 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
2 clinical annotations across 2 drugs |
phenome — Top 30 of 1561 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 ‘CAT’ and resolved to ‘Catalase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 113 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 8 of 8 traits by best p-value, aggregated from 16 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/P04040 — 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/ENSG00000121691/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3627594/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CAT — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CAT — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CAT%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=CAT — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/CAT — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:28:39 · 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