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: K43 Ventral hernia |
-0.233 |
0.0978 |
0.0174 |
Wald ratio |
1 |
cis |
NA |
| Intracranial volume |
9.04e+03 |
3.9e+03 |
0.0203 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0152 |
0.00663 |
0.0219 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level |
-0.473 |
0.217 |
0.0296 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
-0.15 |
0.0711 |
0.0348 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.326 |
0.158 |
0.0393 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
-0.0448 |
0.022 |
0.0421 |
Wald ratio |
1 |
cis |
NA |
| Squamous cell lung cancer |
0.105 |
0.0526 |
0.0454 |
Wald ratio |
1 |
cis |
NA |
| Ischemic stroke |
0.0697 |
0.0351 |
0.047 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
-0.0317 |
0.0165 |
0.0543 |
Wald ratio |
1 |
cis |
NA |
| Lumbar spine bone mineral density |
0.0344 |
0.0181 |
0.057 |
Wald ratio |
1 |
cis |
NA |
| Clear cell ovarian cancer |
-0.157 |
0.0831 |
0.0595 |
Wald ratio |
1 |
cis |
NA |
| …and 70 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4984_83_1 |
Esterase D |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
12 association rows across 6 traits (11 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 |
| S-formylglutathione hydrolase levels |
7e-182 |
rs73193056 |
6 |
GCST90426175 |
no MR -> candidate analysis |
| S-formylglutathione hydrolase levels (ESD.4984.83.1) |
1e-88 |
rs8192888 |
2 |
GCST90242707 |
no MR -> candidate analysis |
| Protein quantitative trait loci |
4e-16 |
rs2794658 |
1 |
GCST010900 |
no MR -> candidate analysis |
| Cerebrospinal fluid biomarker levels |
2e-15 |
rs947409 |
1 |
GCST004000 |
no MR -> candidate analysis |
| Serum levels of protein ESD |
6e-12 |
rs1216987 |
1 |
GCST90088844 |
no MR -> candidate analysis |
| Blood protein levels |
1e-7 |
rs1216987 |
1 |
GCST006585 |
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 113 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 |
| rheumatic disorder |
0.492 |
— |
common-variant locus |
no MR -> candidate analysis |
| kidney disorder |
0.331 |
— |
common-variant locus |
no MR -> candidate analysis |
| placental retention |
0.331 |
— |
common-variant locus |
no MR -> candidate analysis |
| placental abruption |
0.26 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian dysfunction |
0.246 |
— |
common-variant locus |
no MR -> candidate analysis |
| diabetic ketoacidosis |
0.104 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.083 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.09 |
— |
common-variant locus |
no MR -> candidate analysis |
| adolescent idiopathic scoliosis |
0.082 |
— |
common-variant locus |
no MR -> candidate analysis |
| thrombophilia |
0.079 |
— |
common-variant locus |
no MR -> candidate analysis |
| Subdural hemorrhage |
0.068 |
— |
common-variant locus |
no MR -> candidate analysis |
| atrial fibrillation |
0.066 |
— |
common-variant locus |
no MR -> candidate analysis |
| color vision disorder |
0.066 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to stimulus |
0.061 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteonecrosis |
0.061 |
— |
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 (S-formylglutathione hydrolase) |
| gnomAD constraint |
pLI=4.8e-11, LOEUF=1.19 — LoF-tolerant |
| GWAS Catalog |
84 unique SNPs / 118 rows |
| ClinVar |
102 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 113 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 ‘ESD’ and resolved to ‘S-formylglutathione hydrolase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 102 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 6 of 6 traits by best p-value, aggregated from 12 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/P10768 — 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/ENSG00000139684/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2189130/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ESD — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ESD — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ESD%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ESD — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:29:29 · 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