Protein Dossier — NAGK (N-acetyl-D-glucosamine kinase)
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 |
| Forearm bone mineral density |
0.135 |
0.0495 |
0.00657 |
Wald ratio |
1 |
cis |
NA |
| Urinary albumin-to-creatinine ratio |
0.0463 |
0.0187 |
0.0135 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
-0.0664 |
0.0277 |
0.0166 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate |
0.159 |
0.0691 |
0.0211 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.131 |
0.0575 |
0.0227 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
-0.172 |
0.0771 |
0.0261 |
Wald ratio |
1 |
cis |
NA |
| Eczema |
-0.125 |
0.0575 |
0.0291 |
Wald ratio |
1 |
cis |
NA |
| Red blood cell count |
0.0141 |
0.00648 |
0.0294 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
0.114 |
0.0527 |
0.0306 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine |
0.105 |
0.0492 |
0.0334 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: H25 Senile cataract |
-0.243 |
0.114 |
0.0336 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: J33 Nasal polyp |
0.191 |
0.0938 |
0.0416 |
Wald ratio |
1 |
cis |
NA |
| …and 102 more outcomes (see JSON) |
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|
|
|
|
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3894_15_2 |
NAGK |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
23 association rows across 14 traits (20 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 |
| NAGK protein levels |
6e-206 |
rs11680831 |
1 |
GCST90469995 |
no MR -> candidate analysis |
| Serum levels of protein NAGK |
1e-102 |
rs2287327 |
1 |
GCST90088573 |
no MR -> candidate analysis |
| Blood protein levels |
2e-57 |
rs2287327 |
1 |
GCST006585 |
no MR -> candidate analysis |
| N-acetyl-D-glucosamine kinase levels (NAGK.3894.15.2) |
9e-36 |
rs11680831 |
1 |
GCST90242001 |
no MR -> candidate analysis |
| N-acetyl-D-glucosamine kinase levels |
1e-34 |
rs1861853 |
6 |
GCST90248577 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
9e-24 |
rs56693109 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Eosinophil count |
2e-14 |
rs2160783 |
5 |
GCST90002298 |
no MR -> candidate analysis |
| Height (baseline) |
5e-13 |
rs10198989 |
1 |
GCST90565843 |
no MR -> candidate analysis |
| Eosinophil percentage of white cells |
3e-12 |
rs2160783 |
1 |
GCST90002382 |
no MR -> candidate analysis |
| Body size or adipose distribution (multivariate analysis) |
2e-11 |
rs10198989 |
1 |
GCST90624105 |
no MR -> candidate analysis |
| B-cell differentiation antigen CD72 protein levels (SomaScan |
3e-10 |
rs2287331 |
1 |
GCST90441219 |
no MR -> candidate analysis |
| Reaction time |
7e-7 |
rs560576410 |
1 |
GCST006268 |
no MR -> candidate analysis |
| …and 2 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 92 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 |
| response to xenobiotic stimulus |
0.195 |
— |
common-variant locus |
no MR -> candidate analysis |
| male reproductive organ cancer |
0.062 |
— |
common-variant locus |
no MR -> candidate analysis |
| secondary malignant neoplasm |
0.041 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 1 diabetes nephropathy |
0.036 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 4 rows above, 4 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 (N-acetyl-D-glucosamine kinase) |
| gnomAD constraint |
pLI=2e-10, LOEUF=1.08 — LoF-tolerant |
| GWAS Catalog |
48 unique SNPs / 94 rows |
| ClinVar |
102 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 92 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 ‘NAGK’ and resolved to ‘N-acetyl-D-glucosamine kinase’ — confirm this is the intended target.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 102 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 14 of 14 traits by best p-value, aggregated from 23 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/Q9UJ70 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000124357/associations — Open Targets data release 26.06
chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295978/ — ChEMBL_37 (released 2026-05-01)
gnomad: https://gnomad.broadinstitute.org/gene/NAGK — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/NAGK — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NAGK%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/NAGK — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:54:45 · 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