CausalSentinel

Protein Dossier — ALPPL2 (Alkaline phosphatase, germ cell type)

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
Body mass index (BMI) 0.0304 0.013 0.0192 Wald ratio 1 cis NA
Eye problems or disorders: Injury or trauma resulting in loss of vision 0.293 0.129 0.0231 Wald ratio 1 cis NA
Non-cancer illness code self-reported: gout 0.203 0.0898 0.0236 Wald ratio 1 cis NA
Hirschsprung’s disease -1.54 0.724 0.0329 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus -0.329 0.165 0.046 Wald ratio 1 cis NA
Diagnoses - main ICD10: G47 Sleep disorders 0.265 0.133 0.0464 Wald ratio 1 cis NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) 0.156 0.0794 0.0493 Wald ratio 1 cis NA
Diagnoses - main ICD10: K20 Oesophagitis 0.202 0.109 0.0634 Wald ratio 1 cis NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter -0.557 0.301 0.0637 Wald ratio 1 cis NA
Intracranial volume -2.01e+04 1.13e+04 0.0752 Wald ratio 1 cis NA
Weight -0.0196 0.0115 0.0873 Wald ratio 1 cis NA
Diagnoses - main ICD10: K44 Diaphragmatic hernia -0.228 0.134 0.0881 Wald ratio 1 cis NA
…and 60 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

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 144 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
nephrotic syndrome 0.452 common-variant locus no MR -> candidate analysis
alcohol drinking 0.405 common-variant locus no MR -> candidate analysis
phobic disorder 0.331 common-variant locus no MR -> candidate analysis
poisoning 0.331 common-variant locus no MR -> candidate analysis
systemic lupus erythematosus 0.132 common-variant locus no MR -> candidate analysis
male reproductive organ cancer 0.121 common-variant locus no MR -> candidate analysis
transient ischemic attack 0.1 common-variant locus no MR -> candidate analysis

Of the 7 rows above, 7 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 (Alkaline phosphatase, germ cell type)
gnomAD constraint not available
GWAS Catalog no mapped SNPs
ClinVar no records
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance