Protein Dossier — ENPP7 (Ectonucleotide pyrophosphatase/phosphodiesterase family member 7)
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 |
| Non-cancer illness code self-reported: hypertension |
0.0119 |
0.00426 |
0.00538 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
-0.00645 |
0.00257 |
0.012 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K40 Inguinal hernia |
-0.0372 |
0.016 |
0.0206 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: high cholesterol |
0.0156 |
0.00674 |
0.0206 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
0.0255 |
0.0111 |
0.0219 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.0366 |
0.017 |
0.0312 |
Wald ratio |
1 |
cis |
NA |
| Weight |
0.00474 |
0.00223 |
0.034 |
Wald ratio |
1 |
cis |
NA |
| HOMA-B |
0.0152 |
0.0073 |
0.0372 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
-0.00466 |
0.00242 |
0.0543 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level |
-0.141 |
0.0733 |
0.0552 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis |
-0.0311 |
0.0169 |
0.0654 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.00456 |
0.00249 |
0.0673 |
Wald ratio |
1 |
cis |
NA |
| …and 94 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4435_66_2 |
ENPP7 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
40 association rows across 15 traits (38 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 |
| CPM/ENPP7 protein level ratio |
9e-6369 |
rs8074547 |
1 |
GCST90314214 |
no MR -> candidate analysis |
| ENPP7/LAMP2 protein level ratio |
4e-5287 |
rs8074547 |
1 |
GCST90314673 |
no MR -> candidate analysis |
| Circulating ENPP7 levels |
3e-4772 |
rs28689126 |
2 |
GCST90860388 |
no MR -> candidate analysis |
| Ectonucleotide pyrophosphatase/phosphodiesterase family memb |
3e-1683 |
rs8076533 |
13 |
GCST90247465 |
no MR -> candidate analysis |
| Ectonucleotide pyrophosphatase/phosphodiesterase family memb |
5e-531 |
rs11871061 |
3 |
GCST90241027 |
no MR -> candidate analysis |
| Blood protein levels |
1e-475 |
rs35759773 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein ENPP7 levels |
9e-171 |
rs60426019 |
1 |
GCST90944278 |
no MR -> candidate analysis |
| ENPP7 protein levels |
8e-145 |
rs33997891 |
10 |
GCST90469118 |
no MR -> candidate analysis |
| Protein quantitative trait loci |
4e-49 |
rs28502318 |
1 |
GCST010900 |
no MR -> candidate analysis |
| Ectonucleotide pyrophosphatase/phosphodiesterase family memb |
6e-33 |
rs11868696 |
1 |
GCST90237645 |
no MR -> candidate analysis |
| Ribosomal RNA small subunit methyltransferase NEP1 protein l |
3e-25 |
rs8064811 |
1 |
GCST90437043 |
no MR -> candidate analysis |
| Intrahepatic cholestasis of pregnancy |
5e-17 |
rs34491636 |
2 |
GCST90832988 |
no MR -> candidate analysis |
| …and 3 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 88 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 |
| Intrahepatic cholestasis of pregnancy |
0.708 |
— |
common-variant locus |
no MR -> candidate analysis |
| cholestasis, intrahepatic, of pregnancy 3 |
0.531 |
— |
common-variant locus |
no MR -> candidate analysis |
| liver disorder |
0.426 |
— |
common-variant locus |
no MR -> candidate analysis |
| Hypocalcemia |
0.397 |
— |
common-variant locus |
no MR -> candidate analysis |
| bipolar disorder |
0.35 |
— |
common-variant locus |
MR: beta=0.0825, p=0.0713 (cis) |
| ileostomy |
0.086 |
— |
common-variant locus |
no MR -> candidate analysis |
| body weight gain |
0.049 |
— |
common-variant locus |
no MR -> candidate analysis |
| tricuspid valve disorder |
0.045 |
— |
common-variant locus |
no MR -> candidate analysis |
| mixed connective tissue disease |
0.042 |
— |
common-variant locus |
no MR -> candidate analysis |
| Dupuytren Contracture |
0.033 |
— |
common-variant locus |
no MR -> candidate analysis |
| kidney disorder |
0.033 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 rows above, 10 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 (Ectonucleotide pyrophosphatase/phosphodiesterase family member 7) |
| gnomAD constraint |
pLI=1.4e-15, LOEUF=1.52 — LoF-tolerant |
| GWAS Catalog |
70 unique SNPs / 139 rows |
| ClinVar |
127 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 88 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 ‘ENPP7’ and resolved to ‘Ectonucleotide pyrophosphatase/phosphodiesterase family member 7’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 127 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 15 of 15 traits by best p-value, aggregated from 40 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/Q6UWV6 — 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/ENSG00000182156/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6058/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ENPP7 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ENPP7 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ENPP7%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ENPP7 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:25:50 · 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