CausalSentinel

Protein Dossier — DRGX (Dorsal root ganglia homeobox protein)

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
Diagnoses - main ICD10: I48 Atrial fibrillation and flutter -0.16 0.0409 8.78e-05 Wald ratio 1 trans NA
Height 0.0166 0.00442 1.77e-04 Wald ratio 1 trans NA
Heel bone mineral density (BMD) T-score automated 0.017 0.00476 3.54e-04 Wald ratio 1 trans NA
Red blood cell count -0.00898 0.00332 0.00676 Wald ratio 1 trans NA
Alcohol intake frequency -0.0127 0.00543 0.0193 Wald ratio 1 trans NA
Happiness -0.0101 0.00453 0.0252 Wald ratio 1 trans NA
Putamen volume 19.8 8.86 0.0253 Wald ratio 1 trans NA
Packed cell volume -0.0583 0.0271 0.0313 Wald ratio 1 trans NA
Haemoglobin concentration -0.0181 0.00856 0.0346 Wald ratio 1 trans NA
Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse -0.114 0.056 0.0415 Wald ratio 1 trans NA
Non-cancer illness code self-reported: bone disorder 0.138 0.0685 0.0434 Wald ratio 1 trans NA
Non-cancer illness code self-reported: vitiligo 0.312 0.168 0.0635 Wald ratio 1 trans NA
…and 90 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

52 association rows across 48 traits (17 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
heart rate (HR, mean, inv-normal transformed) 9e-36 rs10776560 2 GCST90476338 no MR -> candidate analysis
GLIPR1 protein levels 1e-24 rs546183174 1 GCST90469357 no MR -> candidate analysis
ASAH2 protein levels 2e-20 rs2889780 2 GCST90468374 no MR -> candidate analysis
Appendicular lean mass 8e-17 rs10776560 1 GCST90000025 no MR -> candidate analysis
Theophylline levels 2e-11 rs571081313 1 GCST90245454 no MR -> candidate analysis
total creatine kinase (minimum, inv-norm transformed) 2e-11 rs4540769 1 GCST90480710 no MR -> candidate analysis
Neutral ceramidase levels 3e-11 rs148805593 1 GCST90161676 no MR -> candidate analysis
Height 1e-10 rs11598726 2 GCST90435412 MR: beta=0.0166, p=1.77e-04 (trans)
Physical function (baseline) 7e-10 rs10776560 1 GCST90565837 no MR -> candidate analysis
Vaginal microbiome presence (o_Bacteroidales) 1e-8 rs7903692 2 GCST90026675 no MR -> candidate analysis
Gut microbial network clusters (Pink (at 1 year) x Any Breas 2e-8 rs77969576 1 GCST90569458 no MR -> candidate analysis
Bone mineral density mean 2e-8 rs139463353 1 GCST90321120 no MR -> candidate analysis
…and 36 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 150 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
frozen shoulder 0.382 common-variant locus no MR -> candidate analysis
diabetes mellitus 0.382 common-variant locus no MR -> candidate analysis
systemic lupus erythematosus 0.251 common-variant locus no MR -> candidate analysis
Hernia of the abdominal wall 0.119 common-variant locus no MR -> candidate analysis
response to antihypertensive drug 0.115 common-variant locus no MR -> candidate analysis
placental abruption 0.114 common-variant locus no MR -> candidate analysis

Of the 6 rows above, 6 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=4.9e-06, LOEUF=1.06 — LoF-tolerant
GWAS Catalog 37 unique SNPs / 74 rows
ClinVar 94 records; 16 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance