Protein Dossier — IMPDH1 (Inosine-5’-monophosphate dehydrogenase 1)
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 |
| Forced expiratory volume in 1-second (FEV1) |
-0.0128 |
0.00328 |
8.97e-05 |
Inverse variance weighted |
2 |
trans |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0128 |
0.00328 |
8.97e-05 |
Inverse variance weighted |
2 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.0138 |
0.00422 |
0.00107 |
Inverse variance weighted |
2 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.0138 |
0.00422 |
0.00107 |
Inverse variance weighted |
2 |
trans |
NA |
| PGC cross-disorder traits |
-0.0608 |
0.0191 |
0.0014 |
Inverse variance weighted |
2 |
trans |
NA |
| PGC cross-disorder traits |
-0.0608 |
0.0191 |
0.0014 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.00345 |
0.00111 |
0.00192 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.00345 |
0.00111 |
0.00192 |
Inverse variance weighted |
2 |
trans |
NA |
| Mean cell haemoglobin |
0.0498 |
0.0165 |
0.00251 |
Inverse variance weighted |
2 |
trans |
NA |
| Mean cell haemoglobin |
0.0498 |
0.0165 |
0.00251 |
Inverse variance weighted |
2 |
trans |
NA |
| Mean cell volume |
0.121 |
0.0421 |
0.00417 |
Inverse variance weighted |
2 |
trans |
NA |
| Mean cell volume |
0.121 |
0.0421 |
0.00417 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 191 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5229_90_3 |
IMDH1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
7 association rows across 6 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 |
| Free Cholesterol to Cholesteryl Esters in Large HDL ratio |
4e-16 |
rs56777177 |
1 |
GCST90827800 |
no MR -> candidate analysis |
| Pelvic organ prolapse |
4e-12 |
rs72624976 |
2 |
GCST010174 |
no MR -> candidate analysis |
| Thyroiditis (PheCode 245) |
8e-12 |
rs541866506 |
1 |
GCST90479871 |
no MR -> candidate analysis |
| Protein quantitative trait loci (liver) |
3e-8 |
rs115597874 |
1 |
GCST011427 |
no MR -> candidate analysis |
| Height |
2e-7 |
rs13245629 |
1 |
GCST90245848 |
MR: beta=-0.0266, p=0.0569 (trans) |
| Glycochenodeoxycholate levels in elite athletes |
8e-6 |
rs4731448 |
1 |
GCST90133913 |
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 628 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 |
| retinitis pigmentosa |
0.803 |
— |
established (curated) |
no MR -> candidate analysis |
| retinitis pigmentosa 10 |
0.894 |
— |
established (curated) |
no MR -> candidate analysis |
| Leber congenital amaurosis |
0.573 |
— |
established (curated) |
no MR -> candidate analysis |
| Leber congenital amaurosis 11 |
0.758 |
— |
established (curated) |
no MR -> candidate analysis |
| Retinal dystrophy |
0.695 |
— |
established (curated) |
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 |
2 known modulators (Inosine-5’-monophosphate dehydrogenase 1) |
| gnomAD constraint |
pLI=6.3e-07, LOEUF=0.724 — LoF-tolerant |
| GWAS Catalog |
23 unique SNPs / 46 rows |
| ClinVar |
740 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
4 clinical annotations across 1 drugs |
phenome — Top 30 of 628 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 ‘IMPDH1’ and resolved to ‘Inosine-5’-monophosphate dehydrogenase 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 740 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 6 of 6 traits by best p-value, aggregated from 7 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/P20839 — 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/ENSG00000106348/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1822/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IMPDH1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IMPDH1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IMPDH1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=IMPDH1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/IMPDH1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:17:20 · 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