Protein Dossier — ENTPD5 (Nucleoside diphosphate phosphatase ENTPD5)
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 |
| Fractured or broken bones in last 5 years |
-0.05 |
0.0182 |
0.00611 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
-0.0116 |
0.00434 |
0.00756 |
Wald ratio |
1 |
cis |
NA |
| Years of schooling |
0.0155 |
0.00621 |
0.0124 |
Wald ratio |
1 |
cis |
NA |
| Amygdala volume |
-12.8 |
5.2 |
0.0137 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.0118 |
0.00491 |
0.0158 |
Wald ratio |
1 |
cis |
NA |
| Cigarettes smoked per day |
0.41 |
0.17 |
0.0159 |
Wald ratio |
1 |
cis |
NA |
| Gallbladder cancer |
-0.6 |
0.249 |
0.016 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: malignant melanoma |
-0.18 |
0.076 |
0.0177 |
Wald ratio |
1 |
cis |
NA |
| PGC cross-disorder traits |
0.0612 |
0.0261 |
0.0188 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Other bones |
-0.06 |
0.0257 |
0.0195 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest |
-0.058 |
0.0263 |
0.0273 |
Wald ratio |
1 |
cis |
NA |
| Hippocampus volume |
-23 |
10.4 |
0.0273 |
Wald ratio |
1 |
cis |
NA |
| …and 98 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4437_56_3 |
ENTP5 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
26 association rows across 14 traits (24 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 ENTPD5 levels |
7e-1068 |
rs113257091 |
4 |
GCST90860373 |
no MR -> candidate analysis |
| Ectonucleoside triphosphate diphosphohydrolase 5 levels |
2e-444 |
rs147326645 |
6 |
GCST90247468 |
no MR -> candidate analysis |
| Serum levels of protein ENTPD5 |
5e-155 |
rs117818304 |
2 |
GCST90088690 |
no MR -> candidate analysis |
| ENTPD5 protein levels |
5e-97 |
rs776508022 |
2 |
GCST90469121 |
no MR -> candidate analysis |
| Blood protein levels |
9e-94 |
rs17094448 |
1 |
GCST006585 |
no MR -> candidate analysis |
| mean corpuscular volume (MCV, mean, inv-norm transformed) |
5e-58 |
rs62005078 |
2 |
GCST90475470 |
no MR -> candidate analysis |
| mean corpuscular volume (MCV, maximum, inv-norm transformed) |
2e-57 |
rs62005078 |
2 |
GCST90475466 |
no MR -> candidate analysis |
| Ectonucleoside triphosphate diphosphohydrolase 5 level in Ch |
8e-17 |
rs58102735 |
1 |
GCST90237647 |
no MR -> candidate analysis |
| Refractive error |
3e-14 |
rs34468446 |
1 |
GCST90841196 |
no MR -> candidate analysis |
| red blood cell count (RBC, maximum, inv-norm transformed) |
2e-11 |
rs62005078 |
1 |
GCST90480668 |
no MR -> candidate analysis |
| red blood cell count (RBC, mean, inv-norm transformed) |
4e-11 |
rs62005078 |
1 |
GCST90480669 |
no MR -> candidate analysis |
| Aspartate aminotransferase levels |
1e-10 |
rs59429148 |
1 |
GCST90018724 |
no MR -> candidate analysis |
| …and 2 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 563 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 |
| familial steroid-resistant nephrotic syndrome with sensorineural deafness |
0.911 |
— |
established (curated) |
no MR -> candidate analysis |
| spondylolisthesis |
0.377 |
— |
common-variant locus |
no MR -> candidate analysis |
| musculoskeletal system disorder |
0.377 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.314 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.303 |
— |
common-variant locus |
no MR -> candidate analysis |
| atrial fibrillation |
0.093 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 6 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 (Nucleoside diphosphate phosphatase ENTPD5) |
| gnomAD constraint |
pLI=4e-14, LOEUF=1.03 — LoF-tolerant |
| GWAS Catalog |
53 unique SNPs / 106 rows |
| ClinVar |
385 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 563 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 ‘ENTPD5’ and resolved to ‘Nucleoside diphosphate phosphatase ENTPD5’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 385 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 14 of 14 traits by best p-value, aggregated from 26 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/O75356 — 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/ENSG00000187097/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4523151/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ENTPD5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ENTPD5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ENTPD5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ENTPD5 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:26:24 · 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