MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Autism | -0.149 | 0.0378 | 7.74e-05 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin | -0.0523 | 0.0139 | 1.74e-04 | Wald ratio | 1 | cis | NA |
| Mean cell volume | -0.124 | 0.036 | 5.45e-04 | Wald ratio | 1 | cis | NA |
| PGC cross-disorder traits | -0.0485 | 0.016 | 0.00239 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | 0.074 | 0.0246 | 0.00264 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | -0.062 | 0.0207 | 0.00267 | Wald ratio | 1 | cis | NA |
| Schizophrenia | -0.0408 | 0.0141 | 0.00373 | Wald ratio | 1 | cis | NA |
| Fasting proinsulin | -0.0266 | 0.00925 | 0.00402 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis | -0.139 | 0.0536 | 0.00943 | Wald ratio | 1 | cis | NA |
| Fasting glucose | -0.0105 | 0.00406 | 0.00949 | Wald ratio | 1 | cis | NA |
| Paget’s disease | -0.203 | 0.08 | 0.0112 | Wald ratio | 1 | cis | NA |
| Potassium in urine | 0.00809 | 0.00322 | 0.0121 | Wald ratio | 1 | cis | NA |
| …and 109 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
26 association rows across 13 traits (22 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 |
|---|---|---|---|---|---|
| Ectonucleotide pyrophosphatase/phosphodiesterase family memb | 2e-1111 | rs77991465 | 2 | GCST90247463 | no MR -> candidate analysis |
| Ectonucleotide pyrophosphatase/phosphodiesterase family memb | 8e-299 | rs1047153 | 1 | GCST90241026 | no MR -> candidate analysis |
| Serum levels of protein ENPP5 | 4e-240 | rs1047153 | 1 | GCST90089495 | no MR -> candidate analysis |
| ENPP5 protein levels | 5e-197 | rs149796129 | 13 | GCST90469116 | no MR -> candidate analysis |
| Ectonucleotide pyrophosphatase/phosphodiesterase family memb | 1e-27 | rs1047153 | 1 | GCST90238335 | no MR -> candidate analysis |
| Skeletal muscle ENPP5 levels | 3e-11 | rs62400863 | 1 | GCST90807121 | no MR -> candidate analysis |
| Mean spheric corpuscular volume | 6e-11 | rs34269469 | 1 | GCST90002397 | no MR -> candidate analysis |
| Mean reticulocyte volume | 7e-11 | rs34269469 | 1 | GCST90002396 | no MR -> candidate analysis |
| Liver ENPP5 levels | 1e-10 | rs62400863 | 1 | GCST90801405 | no MR -> candidate analysis |
| Lymphocytic leukemia | 7e-7 | rs114961115 | 1 | GCST90011814 | no MR -> candidate analysis |
| Total cholesterol change in response to fenofibrate in stati | 9e-7 | rs9472719 | 1 | GCST004765 | no MR -> candidate analysis |
| General cognitive ability | 1e-6 | rs2223776 | 1 | GCST006269 | no MR -> candidate analysis |
| …and 1 more traits (see JSON) |
Top diseases by Open Targets association (of 102 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 |
|---|---|---|---|---|
| ptosis | 0.517 | — | common-variant locus | no MR -> candidate analysis |
| infectious disease | 0.511 | — | common-variant locus | no MR -> candidate analysis |
| severe acute respiratory syndrome | 0.347 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.347 | — | common-variant locus | no MR -> candidate analysis |
| color vision disorder | 0.179 | — | common-variant locus | no MR -> candidate analysis |
| skin neoplasm | 0.119 | — | common-variant locus | no MR -> candidate analysis |
| mental disorder | 0.067 | — | common-variant locus | no MR -> candidate analysis |
| tooth disorder | 0.066 | — | common-variant locus | no MR -> candidate analysis |
| temporomandibular joint disorder | 0.065 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.056 | — | common-variant locus | MR: beta=-0.0497, p=0.0772 (cis) |
| skin aging | 0.053 | — | common-variant locus | no MR -> candidate analysis |
| hair color | 0.052 | — | common-variant locus | no MR -> candidate analysis |
| external ear disorder | 0.046 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis | 0.046 | — | common-variant locus | MR: beta=-0.0497, p=0.0772 (cis) |
| total hip arthroplasty | 0.041 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 13 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=3.7e-08, LOEUF=1.11 — LoF-tolerant |
| GWAS Catalog | 60 unique SNPs / 120 rows |
| ClinVar | 81 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 102 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 ‘ENPP5’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 81 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 13 of 13 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.uniprot: https://www.uniprot.org/uniprotkb/Q9UJA9 — 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/ENSG00000112796/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ENPP5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ENPP5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ENPP5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ENPP5 — GWAS Catalog search API (live; release not exposed)