MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Thalamus volume | -90.1 | 34.9 | 0.00994 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions | 0.716 | 0.289 | 0.0133 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pneumothorax | 0.784 | 0.326 | 0.016 | Wald ratio | 1 | cis | NA |
| Anorexia nervosa | 0.394 | 0.167 | 0.0186 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I84 Haemorrhoids | 0.161 | 0.0709 | 0.0229 | Wald ratio | 1 | cis | NA |
| Endometrioid ovarian cancer | -0.348 | 0.156 | 0.0258 | Wald ratio | 1 | cis | NA |
| Type 2 diabetes | -0.37 | 0.17 | 0.0299 | Wald ratio | 1 | cis | NA |
| Nucleus accumbens volume | -13.2 | 6.1 | 0.0308 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertension | 0.0451 | 0.021 | 0.0318 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) | 0.275 | 0.131 | 0.0359 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0339 | 0.0167 | 0.0424 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K35 Acute appendicitis | 0.287 | 0.142 | 0.0437 | Wald ratio | 1 | cis | NA |
| …and 68 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
6 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 |
|---|---|---|---|---|---|
| UROS protein levels | 3e-60 | rs10794023 | 1 | GCST90471017 | no MR -> candidate analysis |
| Uroporphyrinogen-III synthase levels | 4e-53 | rs1935451 | 1 | GCST90250109 | no MR -> candidate analysis |
| Serum levels of protein UROS | 1e-47 | rs2027515 | 1 | GCST90086638 | no MR -> candidate analysis |
| Blood protein levels | 4e-27 | rs2027515 | 1 | GCST006585 | no MR -> candidate analysis |
| Brain morphology (MOSTest) | 2e-8 | rs41315014 | 1 | GCST90239729 | no MR -> candidate analysis |
| Appendicular lean mass | 5e-8 | rs10901430 | 1 | GCST009577 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 758 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 |
|---|---|---|---|---|
| Congenital erythropoietic porphyria | 0.898 | — | established (curated) | no MR -> candidate analysis |
| cutaneous porphyria | 0.916 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.313 | — | 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (Uroporphyrinogen-III synthase) |
| gnomAD constraint | pLI=0.0019, LOEUF=0.809 — LoF-tolerant |
| GWAS Catalog | 21 unique SNPs / 42 rows |
| ClinVar | 241 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 758 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 ‘UROS’ and resolved to ‘Uroporphyrinogen-III synthase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 241 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 6 of 6 traits by best p-value, aggregated from 6 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/P10746 — 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/ENSG00000188690/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4433/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/UROS — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/UROS — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=UROS%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/UROS — GWAS Catalog search API (live; release not exposed)