Protein Dossier — IMPDH2 (Inosine-5’-monophosphate dehydrogenase 2)
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 |
| Height |
-0.0502 |
0.00803 |
4.10e-10 |
Wald ratio |
1 |
trans |
NA |
| Platelet count |
-3.65 |
1.08 |
7.25e-04 |
Wald ratio |
1 |
trans |
NA |
| PGC cross-disorder traits |
-0.102 |
0.0329 |
0.00193 |
Wald ratio |
1 |
trans |
NA |
| Mean platelet volume |
0.00803 |
0.00276 |
0.00362 |
Wald ratio |
1 |
trans |
NA |
| Weight |
-0.0164 |
0.00581 |
0.00487 |
Wald ratio |
1 |
trans |
NA |
| Bipolar disorder |
-0.17 |
0.0637 |
0.00775 |
Wald ratio |
1 |
trans |
NA |
| Major depressive disorder |
-0.152 |
0.0594 |
0.0104 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.0639 |
0.0254 |
0.0118 |
Wald ratio |
1 |
trans |
NA |
| Fractured bone site(s): Other bones |
-0.0694 |
0.0307 |
0.0238 |
Wald ratio |
1 |
trans |
NA |
| Eye problems or disorders: Diabetes related eye disease |
-0.235 |
0.108 |
0.0293 |
Wald ratio |
1 |
trans |
NA |
| Knee osteoarthritis |
-0.155 |
0.0746 |
0.0374 |
Wald ratio |
1 |
trans |
NA |
| Clear cell ovarian cancer |
-0.23 |
0.112 |
0.0395 |
Wald ratio |
1 |
trans |
NA |
| …and 101 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5250_53_3 |
IMDH2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
5 association rows across 5 traits (5 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 |
| Glycated hemoglobin levels |
3e-17 |
rs11706052 |
1 |
GCST90019509 |
no MR -> candidate analysis |
| Educational attainment (years of education) |
6e-17 |
rs72624911 |
1 |
GCST006442 |
no MR -> candidate analysis |
| Creatinine levels |
2e-13 |
rs11706052 |
1 |
GCST90019502 |
no MR -> candidate analysis |
| Estimated glomerular filtration rate |
4e-13 |
rs11706052 |
1 |
GCST90019506 |
no MR -> candidate analysis |
| Duration to complete alphanumeric path task (baseline) |
8e-12 |
rs11706052 |
1 |
GCST90565839 |
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 335 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 |
| autosomal dominant dopa-responsive dystonia |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| Dystonia |
0.544 |
— |
established (curated) |
no MR -> candidate analysis |
| dystonic disorder |
0.544 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 3 rows above, 3 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 (Inosine-5’-monophosphate dehydrogenase 2) |
| gnomAD constraint |
pLI=4.6e-06, LOEUF=0.763 — LoF-tolerant |
| GWAS Catalog |
70 unique SNPs / 140 rows |
| ClinVar |
113 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
2 clinical annotations across 3 drugs |
phenome — Top 30 of 335 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘IMPDH2’ and resolved to ‘Inosine-5’-monophosphate dehydrogenase 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 113 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 5 of 5 traits by best p-value, aggregated from 5 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P12268 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000178035/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2002/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IMPDH2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IMPDH2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IMPDH2%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=IMPDH2 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/IMPDH2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:17:35 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none