CausalSentinel

Protein Dossier — MPZ (Myelin protein P0)

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
HDL cholesterol 0.0669 0.0193 5.37e-04 Wald ratio 1 trans NA
Triglycerides -0.0565 0.0183 0.00206 Wald ratio 1 trans NA
Fasting glucose 0.0545 0.0178 0.00225 Wald ratio 1 trans NA
HOMA-B -0.048 0.0193 0.0129 Wald ratio 1 trans NA
Non-cancer illness code self-reported: bladder problem (not cancer) 0.309 0.128 0.0155 Wald ratio 1 trans NA
Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] 0.172 0.0793 0.0302 Wald ratio 1 trans NA
Non-cancer illness code self-reported: joint disorder 0.292 0.145 0.0445 Wald ratio 1 trans NA
Fractured bone site(s): Ankle 0.182 0.0933 0.0511 Wald ratio 1 trans NA
Low grade serous ovarian cancer 0.496 0.257 0.054 Wald ratio 1 trans NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) -0.216 0.116 0.0625 Wald ratio 1 trans NA
Diagnoses - main ICD10: K29 Gastritis and duodenitis -0.191 0.103 0.0632 Wald ratio 1 trans NA
Cancer code self-reported: malignant melanoma -0.475 0.256 0.0637 Wald ratio 1 trans NA
…and 76 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

21 association rows across 15 traits (19 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
Neutrophil count 4e-44 rs4131826 1 GCST90101731 no MR -> candidate analysis
White blood cell count 1e-38 rs4131826 1 GCST90101726 no MR -> candidate analysis
Non-albumin protein levels 1e-33 rs76072566 2 GCST90019515 no MR -> candidate analysis
Serum total protein levels 1e-32 rs76072566 3 GCST90019522 no MR -> candidate analysis
Low affinity immunoglobulin gamma Fc region receptor II-b le 6e-21 rs7532602 2 GCST90161704 no MR -> candidate analysis
FCRLB protein levels 3e-19 rs10081999 2 GCST90469210 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 7e-16 rs11265585 1 GCST90838667 no MR -> candidate analysis
Low affinity immunoglobulin gamma Fc region receptor II-a le 3e-14 rs7532602 2 GCST90161703 no MR -> candidate analysis
Total protein levels (UKB data field 30860) 3e-13 rs189099484 1 GCST90468105 no MR -> candidate analysis
CD48 protein levels 7e-13 rs4587585 1 GCST90468635 no MR -> candidate analysis
SLAMF7 protein levels 1e-12 rs72714960 1 GCST90470651 no MR -> candidate analysis
FCGR3B protein levels 6e-12 rs12727003 1 GCST90469202 no MR -> candidate analysis
…and 3 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 1484 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
Charcot-Marie-Tooth disease type 1B 0.947 established (curated) no MR -> candidate analysis
Dejerine-Sottas syndrome 0.929 established (curated) no MR -> candidate analysis
Charcot-Marie-Tooth disease type 2I 0.947 established (curated) no MR -> candidate analysis
Autosomal dominant Charcot-Marie-Tooth disease type 2I 0.89 established (curated) no MR -> candidate analysis
Charcot-Marie-Tooth disease type 2J 0.874 established (curated) no MR -> candidate analysis
neuropathy 0.815 0.487 established (curated) no MR -> candidate analysis
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 0.801 established (curated) no MR -> candidate analysis
Charcot-Marie-Tooth disease dominant intermediate D 0.797 established (curated) no MR -> candidate analysis
Roussy-Lévy syndrome 0.819 established (curated) no MR -> candidate analysis
Autosomal dominant Charcot-Marie-Tooth disease type 2J 0.784 established (curated) no MR -> candidate analysis
Charcot-Marie-Tooth disease type 3 0.877 established (curated) no MR -> candidate analysis
Charcot-Marie-Tooth disease type 4E 0.812 established (curated) no MR -> candidate analysis
Charcot-Marie-Tooth disease 0.904 established (curated) no MR -> candidate analysis
Roussy-Levy syndrome 0.608 established (curated) no MR -> candidate analysis
Charcot-Marie-Tooth disease type 1 0.917 established (curated) no MR -> candidate analysis

Of the 15 rows above, 15 have no MR estimate in this resource. Across all retrieved diseases for this gene: 2 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=0.064, LOEUF=0.741 — LoF-tolerant
GWAS Catalog 79 unique SNPs / 158 rows
ClinVar 760 records; 12 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance