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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: K40 Inguinal hernia | 0.142 | 0.0491 | 0.0037 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux | 0.109 | 0.04 | 0.00656 | Wald ratio | 1 | cis | NA |
| Schizophrenia | 0.118 | 0.0458 | 0.00989 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Ankle | -0.225 | 0.0999 | 0.0244 | Wald ratio | 1 | cis | NA |
| Depressive symptoms | -0.0345 | 0.0159 | 0.0303 | Wald ratio | 1 | cis | NA |
| Endometrioid ovarian cancer | 0.253 | 0.123 | 0.0392 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | -0.162 | 0.0856 | 0.0591 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: malignant melanoma | 0.164 | 0.0898 | 0.0677 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | 0.146 | 0.084 | 0.0815 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee | -0.121 | 0.0705 | 0.0863 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | -0.126 | 0.076 | 0.0963 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | 0.0908 | 0.0548 | 0.0971 | Wald ratio | 1 | cis | NA |
| …and 53 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
6 association rows across 6 traits (6 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 |
|---|---|---|---|---|---|
| Orotidine levels | 1e-351 | rs11541956 | 1 | GCST90103117 | no MR -> candidate analysis |
| 5’(3’)-deoxyribonucleotidase, cytosolic type levels | 2e-127 | rs11541956 | 1 | GCST90421796 | no MR -> candidate analysis |
| Cerebrospinal fluid orotidine levels | 6e-30 | rs11541956 | 1 | GCST90317996 | no MR -> candidate analysis |
| Height | 3e-28 | rs12453556 | 1 | GCST90245848 | no MR -> candidate analysis |
| C-reactive protein levels | 5e-11 | rs4788867 | 1 | GCST009777 | no MR -> candidate analysis |
| Height (baseline) | 4e-8 | rs112659109 | 1 | GCST90565843 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 106 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 |
|---|---|---|---|---|
| type 2 diabetes mellitus | 0.308 | — | common-variant locus | no MR -> candidate analysis |
Of the 1 rows above, 1 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 (5’(3’)-deoxyribonucleotidase, cytosolic type) |
| gnomAD constraint | pLI=0.0001, LOEUF=1.24 — LoF-tolerant |
| GWAS Catalog | 45 unique SNPs / 90 rows |
| ClinVar | 65 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 106 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 ‘NT5C’ and resolved to ‘5’(3’)-deoxyribonucleotidase, cytosolic type’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 65 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 6 of 6 traits by best p-value, aggregated from 6 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/Q8TCD5 — 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/ENSG00000125458/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3751653/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/NT5C — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NT5C — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NT5C%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/NT5C — GWAS Catalog search API (live; release not exposed)