CausalSentinel

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)              

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)          

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

Caveats declared by the tools

Sources

Provenance