CausalSentinel

Protein Dossier — TMEM2 (Cell surface hyaluronidase CEMIP2)

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
Eye problems or disorders: Glaucoma 0.246 0.075 0.00104 Wald ratio 1 trans NA
Systolic blood pressure automated reading 0.0364 0.0117 0.00188 Wald ratio 1 trans NA
Fractured bone site(s): Wrist 0.199 0.0673 0.00312 Wald ratio 1 trans NA
Mean cell haemoglobin concentration 0.0482 0.0172 0.00494 Wald ratio 1 trans NA
Cough on most days 0.142 0.0511 0.00562 Wald ratio 1 trans NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.135 0.0589 0.0219 Wald ratio 1 trans NA
Diagnoses - main ICD10: G47 Sleep disorders 0.263 0.117 0.0239 Wald ratio 1 trans NA
Small vessel disease -0.379 0.17 0.026 Wald ratio 1 trans NA
Percent emphysema -0.194 0.0909 0.033 Wald ratio 1 trans NA
Diagnoses - main ICD10: M54 Dorsalgia 0.16 0.0762 0.0356 Wald ratio 1 trans NA
Forearm bone mineral density 0.15 0.0743 0.043 Wald ratio 1 trans NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus 0.17 0.086 0.0479 Wald ratio 1 trans NA
…and 92 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 124 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
Inguinal hernia 0.699 established (curated) no MR -> candidate analysis
Hypertelorism 0.699 established (curated) no MR -> candidate analysis
myopia 0.699 established (curated) no MR -> candidate analysis
Retinal dystrophy 0.699 established (curated) no MR -> candidate analysis
Abnormal sternum morphology 0.699 established (curated) no MR -> candidate analysis
Joint hypermobility 0.699 established (curated) no MR -> candidate analysis
smoking initiation 0.644 common-variant locus no MR -> candidate analysis
ventricular septal defect 0.517 common-variant locus no MR -> candidate analysis
atherosclerosis 0.509 common-variant locus no MR -> candidate analysis
substance abuse 0.501 common-variant locus no MR -> candidate analysis
attention deficit-hyperactivity disorder 0.501 common-variant locus no MR -> candidate analysis
rheumatoid arthritis 0.482 common-variant locus no MR -> candidate analysis
eye disorder 0.456 common-variant locus no MR -> candidate analysis
benign prostatic hyperplasia 0.396 common-variant locus no MR -> candidate analysis
congenital heart disease 0.285 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: 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