CausalSentinel

Protein Dossier — HPX (Hemopexin)

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
Cardioembolic stroke -0.14 0.0524 0.00774 Inverse variance weighted 2 cis NA
Cardioembolic stroke -0.14 0.0524 0.00774 Inverse variance weighted 2 trans NA
Systolic blood pressure automated reading 0.00943 0.00366 0.00995 Inverse variance weighted 2 cis NA
Systolic blood pressure automated reading 0.00943 0.00366 0.00995 Inverse variance weighted 2 trans NA
Diastolic blood pressure automated reading 0.00936 0.00366 0.0105 Inverse variance weighted 2 cis NA
Diastolic blood pressure automated reading 0.00936 0.00366 0.0105 Inverse variance weighted 2 trans NA
Weight 0.0076 0.00316 0.016 Inverse variance weighted 2 cis NA
Weight 0.0076 0.00316 0.016 Inverse variance weighted 2 trans NA
Body mass index (BMI) 0.0084 0.00357 0.0186 Inverse variance weighted 2 cis NA
Body mass index (BMI) 0.0084 0.00357 0.0186 Inverse variance weighted 2 trans NA
Internalizing problems -0.0946 0.0407 0.02 Wald ratio 1 trans NA
Mean cell volume -0.112 0.05 0.0247 Wald ratio 1 trans NA
…and 148 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-2768_56_2 Hemopexin Suhre K 2019

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

48 association rows across 43 traits (48 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
GTPase KRas levels 5e-88 rs76881753 1 GCST90137602 no MR -> candidate analysis
Muellerian-inhibiting factor levels 7e-64 rs35862450 3 GCST90248474 no MR -> candidate analysis
Syntaxin-17 level in Chronic kidney disease with hypertensio 1e-54 rs12117 1 GCST90235794 no MR -> candidate analysis
Apolipoprotein L1 level in Chronic kidney disease with hyper 2e-50 rs12117 1 GCST90239378 no MR -> candidate analysis
Tumor necrosis factor ligand superfamily member 18 level in 4e-48 rs12117 1 GCST90237057 no MR -> candidate analysis
Core-binding factor subunit beta level in Chronic kidney dis 8e-48 rs12117 1 GCST90232819 no MR -> candidate analysis
Exportin-5 level in Chronic kidney disease with hypertension 2e-47 rs12117 1 GCST90237001 no MR -> candidate analysis
SMPD1/SMPDL3A protein level ratio 2e-45 rs35274104 1 GCST90315854 no MR -> candidate analysis
NTF2-related export protein 2 level in Chronic kidney diseas 4e-44 rs12117 1 GCST90235181 no MR -> candidate analysis
Tumor necrosis factor level in Chronic kidney disease with h 1e-39 rs12117 1 GCST90238125 no MR -> candidate analysis
Homeobox protein SIX6 level in Chronic kidney disease with h 1e-35 rs12117 1 GCST90235543 no MR -> candidate analysis
Tumor necrosis factor ligand superfamily member 18 levels 1e-34 rs77296242 1 GCST90161439 no MR -> candidate analysis
…and 31 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 697 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
panniculitis 0.353 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.

5. Downstream annotation (druggability & safety preview)

Layer Result
ChEMBL druggability 0 known modulators (Hemopexin)
gnomAD constraint pLI=9.1e-12, LOEUF=1.01 — LoF-tolerant
GWAS Catalog 54 unique SNPs / 108 rows
ClinVar 120 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance