CausalSentinel

Protein Dossier — HFE2 (Hemojuvelin)

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
Triglycerides -0.05 0.0143 4.84e-04 Wald ratio 1 trans NA
Urate -0.0549 0.0165 8.58e-04 Wald ratio 1 trans NA
Non-cancer illness code self-reported: emphysema or chronic bronchitis 0.155 0.0554 0.00514 Wald ratio 1 trans NA
Non-cancer illness code self-reported: gout -0.21 0.0777 0.00679 Wald ratio 1 trans NA
Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation 0.115 0.0464 0.0135 Wald ratio 1 trans NA
Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal 0.133 0.0553 0.0164 Wald ratio 1 trans NA
Diagnoses - main ICD10: R55 Syncope and collapse 0.161 0.0677 0.0177 Wald ratio 1 trans NA
2hr glucose 0.137 0.0579 0.0179 Wald ratio 1 trans NA
Non-cancer illness code self-reported: migraine 0.0859 0.0396 0.0301 Wald ratio 1 trans NA
Chronic kidney disease -0.0975 0.0457 0.0329 Wald ratio 1 trans NA
Nucleus accumbens volume -6.98 3.28 0.033 Wald ratio 1 trans NA
Body mass index (BMI) 0.0158 0.00745 0.0345 Wald ratio 1 trans NA
…and 111 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-3332_57_1 RGM-C Suhre K 2019

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

No GWAS Catalog associations mapped to this gene.

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 224 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
hemochromatosis type 2A 0.955 established (curated) no MR -> candidate analysis
hemochromatosis type 2 0.657 established (curated) no MR -> candidate analysis
hemochromatosis type 1 0.684 established (curated) no MR -> candidate analysis
type 2 diabetes mellitus 0.14 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 not available — no ChEMBL target (undrugged)
gnomAD constraint not available
GWAS Catalog no mapped SNPs
ClinVar no records
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance