Protein Dossier — ENTPD1 (Ectonucleoside triphosphate diphosphohydrolase 1)
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: K57 Diverticular disease of intestine |
0.207 |
0.0674 |
0.00214 |
Wald ratio |
1 |
cis |
NA |
| Transferrin Saturation |
-0.142 |
0.0484 |
0.00336 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis |
0.234 |
0.0885 |
0.00823 |
Wald ratio |
1 |
cis |
NA |
| Iron |
-0.124 |
0.048 |
0.00954 |
Wald ratio |
1 |
cis |
NA |
| Total cholesterol |
-0.0633 |
0.0247 |
0.0103 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Cataract |
0.138 |
0.0561 |
0.014 |
Wald ratio |
1 |
cis |
NA |
| Fracture resulting from simple fall |
0.0699 |
0.029 |
0.0157 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse |
0.282 |
0.122 |
0.0209 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: joint disorder |
0.294 |
0.13 |
0.0241 |
Wald ratio |
1 |
cis |
NA |
| HOMA-IR |
0.0419 |
0.0196 |
0.0321 |
Wald ratio |
1 |
cis |
NA |
| Large vessel disease |
0.344 |
0.17 |
0.0423 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0388 |
0.0192 |
0.0434 |
Wald ratio |
1 |
cis |
NA |
| …and 89 more outcomes (see JSON) |
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|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3182_38_2 |
CD39 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
169 association rows across 93 traits (158 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 |
| CD39+ activated CD4 regulatory T cell %activated CD4 regulat |
1e-897 |
rs4539246 |
3 |
GCST90001490 |
no MR -> candidate analysis |
| CD39+ CD4+ T cell %CD4+ T cell |
7e-738 |
rs10736092 |
1 |
GCST90001659 |
no MR -> candidate analysis |
| CD39+ CD4+ T cell %T cell |
5e-712 |
rs10736092 |
1 |
GCST90001658 |
no MR -> candidate analysis |
| CD39 on CD39+ activated CD4 regulatory T cell |
1e-700 |
rs4918960 |
3 |
GCST90002030 |
no MR -> candidate analysis |
| CD39 on CD39+ secreting CD4 regulatory T cell |
1e-700 |
rs10882655 |
2 |
GCST90002031 |
no MR -> candidate analysis |
| CD39 on CD39+ CD4+ T cell |
1e-700 |
rs10882655 |
3 |
GCST90002032 |
no MR -> candidate analysis |
| CD39+ secreting CD4 regulatory T cell %secreting CD4 regulat |
4e-631 |
rs2861152 |
3 |
GCST90001496 |
no MR -> candidate analysis |
| CD39+ secreting CD4 regulatory T cell %CD4 regulatory T cell |
5e-630 |
rs7088584 |
3 |
GCST90001497 |
no MR -> candidate analysis |
| CD39+ CD8+ T cell %T cell |
3e-607 |
rs10736092 |
2 |
GCST90001670 |
no MR -> candidate analysis |
| CD39+ CD4+ T cell Absolute Count |
1e-605 |
rs7088584 |
2 |
GCST90001660 |
no MR -> candidate analysis |
| CD39+ CD8+ T cell %CD8+ T cell |
1e-583 |
rs4917715 |
2 |
GCST90001671 |
no MR -> candidate analysis |
| CD39+ CD8+ T cell Absolute Count |
2e-574 |
rs10748649 |
2 |
GCST90001672 |
no MR -> candidate analysis |
| …and 81 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 1060 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 |
| Autosomal recessive spastic paraplegia type 64 |
0.816 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary spastic paraplegia 64 |
0.891 |
— |
established (curated) |
no MR -> candidate analysis |
| diverticular disease |
0.59 |
— |
common-variant locus |
MR: beta=0.207, p=0.00214 (cis) |
| placental abruption |
0.547 |
— |
common-variant locus |
no MR -> candidate analysis |
| dementia |
0.458 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.316 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary spastic paraplegia |
0.31 |
— |
established (curated) |
no MR -> candidate analysis |
| Global developmental delay |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
| microcephaly |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
| polymicrogyria |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 10 rows above, 9 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 (Ectonucleoside triphosphate diphosphohydrolase 1) |
| gnomAD constraint |
pLI=3.1e-06, LOEUF=0.774 — LoF-tolerant |
| GWAS Catalog |
103 unique SNPs / 219 rows |
| ClinVar |
309 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1060 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 ‘ENTPD1’ and resolved to ‘Ectonucleoside triphosphate diphosphohydrolase 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 309 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 93 traits by best p-value, aggregated from 169 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/P49961 — 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/ENSG00000138185/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5722/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ENTPD1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ENTPD1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ENTPD1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ENTPD1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:26:08 · 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