CausalSentinel

Protein Dossier — RIDA (2-iminobutanoate/2-iminopropanoate deaminase)

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
PGC cross-disorder traits -0.119 0.0387 0.00209 Wald ratio 1 cis NA
Systolic blood pressure automated reading -0.0205 0.00778 0.00838 Wald ratio 1 cis NA
Hearing difficulty or problems: Yes 0.031 0.0127 0.0147 Wald ratio 1 cis NA
Diagnoses - main ICD10: K80 Cholelithiasis 0.107 0.0477 0.0249 Wald ratio 1 cis NA
Ischemic stroke 0.11 0.0508 0.0297 Wald ratio 1 cis NA
HOMA-B 0.0221 0.0103 0.0321 Wald ratio 1 cis NA
Diagnoses - main ICD10: K43 Ventral hernia 0.201 0.0942 0.033 Wald ratio 1 cis NA
Diagnoses - main ICD10: J33 Nasal polyp -0.34 0.16 0.0334 Wald ratio 1 cis NA
Birth length 0.0614 0.0304 0.0434 Wald ratio 1 cis NA
Systemic lupus erythematosus 0.289 0.147 0.0492 Wald ratio 1 cis NA
Internalizing problems -0.134 0.0688 0.0508 Wald ratio 1 cis NA
Diagnoses - main ICD10: M23 Internal derangement of knee 0.0911 0.0468 0.0516 Wald ratio 1 cis NA
…and 94 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

9 association rows across 9 traits (7 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
PTP4A3 protein levels 7e-216 rs2242197 1 GCST90470375 no MR -> candidate analysis
Ribonuclease UK114 levels 7e-134 rs77539382 1 GCST90249398 no MR -> candidate analysis
Cerebrospinal fluid protein RIDA levels 4e-45 rs2242197 1 GCST90944540 no MR -> candidate analysis
Ribonuclease UK114 levels (HRSP12.14636.25.3) 2e-39 rs1462977 1 GCST90242670 no MR -> candidate analysis
RIDA protein levels 2e-15 rs116843736 1 GCST90470469 no MR -> candidate analysis
Serum levels of protein RIDA 8e-14 rs2242197 1 GCST90087895 no MR -> candidate analysis
Blood protein levels 6e-10 rs57392722 1 GCST006585 no MR -> candidate analysis
Obesity-related traits 6e-7 rs10107366 1 GCST001762 no MR -> candidate analysis
Prion diseases 9e-6 rs2071598 1 GCST001366 no MR -> candidate analysis

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

Top diseases by Open Targets association (of 59 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
Hodgkins lymphoma 0.127 common-variant locus no MR -> candidate analysis
Abnormality of the skeletal system 0.069 common-variant locus no MR -> candidate analysis
pernicious anemia 0.059 common-variant locus no MR -> candidate analysis
placental retention 0.053 common-variant locus no MR -> candidate analysis
brain disorder 0.041 common-variant locus no MR -> candidate analysis

Of the 5 rows above, 5 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 (Putative reactive intermediate deaminase TdcF)
gnomAD constraint pLI=2.1e-06, LOEUF=1.43 — LoF-tolerant
GWAS Catalog 37 unique SNPs / 74 rows
ClinVar 45 records; 19 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance