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 |
|---|---|---|---|---|---|---|---|
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis | 1.78 | 0.54 | 9.70e-04 | Inverse variance weighted | 2 | cis | NA |
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis | 1.78 | 0.54 | 9.70e-04 | Inverse variance weighted | 2 | trans | NA |
| Diagnoses - main ICD10: K80 Cholelithiasis | 0.155 | 0.0483 | 0.0013 | Inverse variance weighted | 2 | cis | NA |
| Diagnoses - main ICD10: K80 Cholelithiasis | 0.155 | 0.0483 | 0.0013 | Inverse variance weighted | 2 | trans | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | 0.142 | 0.0456 | 0.00185 | Inverse variance weighted | 2 | cis | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | 0.142 | 0.0456 | 0.00185 | Inverse variance weighted | 2 | trans | NA |
| Systemic lupus erythematosus | 0.507 | 0.185 | 0.00614 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.0117 | 0.00455 | 0.0101 | Inverse variance weighted | 2 | cis | NA |
| Forced vital capacity (FVC) | -0.0117 | 0.00455 | 0.0101 | Inverse variance weighted | 2 | trans | NA |
| Triglycerides | -0.0333 | 0.0144 | 0.0205 | Inverse variance weighted | 2 | cis | NA |
| Triglycerides | -0.0333 | 0.0144 | 0.0205 | Inverse variance weighted | 2 | trans | NA |
| Mean cell haemoglobin | 0.108 | 0.047 | 0.0212 | Wald ratio | 1 | cis | NA |
| …and 151 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
14 association rows across 10 traits (13 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 |
|---|---|---|---|---|---|
| SPARCL1 protein levels | 8e-106 | rs186666722 | 4 | GCST90470717 | no MR -> candidate analysis |
| ADP-ribose pyrophosphatase, mitochondrial level in Chronic k | 3e-56 | rs145881573 | 1 | GCST90239370 | no MR -> candidate analysis |
| Serum levels of protein NUDT9 | 1e-42 | rs9998212 | 1 | GCST90090711 | no MR -> candidate analysis |
| ADP-ribose pyrophosphatase, mitochondrial levels | 4e-29 | rs28529046 | 2 | GCST90427824 | no MR -> candidate analysis |
| Blood protein levels | 2e-22 | rs10030035 | 1 | GCST006585 | no MR -> candidate analysis |
| SPARC-like protein 1 levels | 3e-18 | rs13138404 | 1 | GCST90162084 | no MR -> candidate analysis |
| Congenital anomalies of urinary system (PheCode 751.2) | 7e-13 | rs142149836 | 1 | GCST90651219 | no MR -> candidate analysis |
| Intelligence (MTAG) | 2e-8 | rs11945232 | 1 | GCST005316 | no MR -> candidate analysis |
| Tinnitus | 4e-8 | rs115125870 | 1 | GCST90448242 | no MR -> candidate analysis |
| CCL4 levels | 7e-6 | rs9994244 | 1 | GCST90503414 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 42 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 |
|---|---|---|---|---|
| gout | 0.703 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the urinary system | 0.416 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.398 | — | common-variant locus | no MR -> candidate analysis |
| Nephropathy | 0.382 | — | common-variant locus | no MR -> candidate analysis |
| nephritis | 0.382 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.37 | — | common-variant locus | no MR -> candidate analysis |
| liver disorder | 0.056 | — | common-variant locus | no MR -> candidate analysis |
| cirrhosis of liver | 0.049 | — | common-variant locus | no MR -> candidate analysis |
| hepatocellular carcinoma | 0.028 | — | established (curated) | no MR -> candidate analysis |
| liver cancer | 0.031 | — | common-variant locus | no MR -> candidate analysis |
| intrahepatic bile duct cancer | 0.031 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the liver | 0.031 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 12 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 | 0 known modulators (ADP-ribose pyrophosphatase, mitochondrial) |
| gnomAD constraint | pLI=1.1e-08, LOEUF=1.02 — LoF-tolerant |
| GWAS Catalog | 80 unique SNPs / 160 rows |
| ClinVar | 86 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 42 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 ‘NUDT9’ and resolved to ‘ADP-ribose pyrophosphatase, mitochondrial’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 86 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 10 of 10 traits by best p-value, aggregated from 14 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/Q9BW91 — 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/ENSG00000170502/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4105984/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/NUDT9 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NUDT9 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NUDT9%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/NUDT9 — GWAS Catalog search API (live; release not exposed)