Protein Dossier — ETHE1 (Persulfide dioxygenase ETHE1, mitochondrial)
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 |
| Intracranial volume |
-1.42e+04 |
5.52e+03 |
0.0103 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hypopituitarism |
0.589 |
0.23 |
0.0103 |
Wald ratio |
1 |
trans |
NA |
| Systolic blood pressure automated reading |
-0.0172 |
0.00732 |
0.0186 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: pernicious anaemia |
0.245 |
0.104 |
0.019 |
Wald ratio |
1 |
trans |
NA |
| LDL cholesterol |
-0.0363 |
0.0157 |
0.0206 |
Wald ratio |
1 |
trans |
NA |
| Total cholesterol |
-0.0335 |
0.0154 |
0.0294 |
Wald ratio |
1 |
trans |
NA |
| Eye problems or disorders: Glaucoma |
-0.149 |
0.0698 |
0.0322 |
Wald ratio |
1 |
trans |
NA |
| IgA nephropathy |
0.473 |
0.228 |
0.0381 |
Wald ratio |
1 |
trans |
NA |
| Neo-openness to experience |
0.43 |
0.211 |
0.041 |
Wald ratio |
1 |
trans |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
-0.0883 |
0.0439 |
0.0443 |
Wald ratio |
1 |
trans |
NA |
| Age at menopause |
-0.11 |
0.0549 |
0.0455 |
Wald ratio |
1 |
trans |
NA |
| Mean cell haemoglobin |
0.0629 |
0.0319 |
0.0484 |
Wald ratio |
1 |
trans |
NA |
| …and 93 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3847_56_2 |
ETHE1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
10 association rows across 5 traits (9 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 TNFRSF10C levels |
2e-280 |
rs78110932 |
1 |
GCST90859942 |
no MR -> candidate analysis |
| LYPD3 protein levels |
1e-140 |
rs112093284 |
4 |
GCST90469828 |
no MR -> candidate analysis |
| PINLYP protein levels |
1e-33 |
rs139053385 |
3 |
GCST90470238 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein LYPD3 levels |
5e-17 |
rs73043650 |
1 |
GCST90944409 |
no MR -> candidate analysis |
| Neutrophil-to-lymphocyte ratio |
2e-9 |
rs201252431 |
1 |
GCST90866310 |
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 120 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 |
| ethylmalonic encephalopathy |
0.927 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of the nervous system |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.312 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 3 rows above, 3 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=0.00055, LOEUF=0.946 — LoF-tolerant |
| GWAS Catalog |
109 unique SNPs / 240 rows |
| ClinVar |
504 records; 14 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 120 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 ‘ETHE1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 504 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 5 of 5 traits by best p-value, aggregated from 10 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/O95571 — 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/ENSG00000105755/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ETHE1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ETHE1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ETHE1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ETHE1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:29:43 · 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