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 |
|---|---|---|---|---|---|---|---|
| Eye problems or disorders: Glaucoma | 0.0946 | 0.0264 | 3.38e-04 | Wald ratio | 1 | trans | NA |
| Squamous cell lung cancer | -0.148 | 0.0423 | 4.65e-04 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Injury or trauma resulting in loss of vision | 0.135 | 0.0396 | 6.69e-04 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions | 0.148 | 0.0443 | 8.18e-04 | Wald ratio | 1 | trans | NA |
| Forced vital capacity (FVC) | 0.00891 | 0.00284 | 0.00172 | Wald ratio | 1 | trans | NA |
| Packed cell volume | -0.0978 | 0.0369 | 0.00814 | Wald ratio | 1 | trans | NA |
| Haemoglobin concentration | -0.0322 | 0.0122 | 0.00848 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | -0.0926 | 0.036 | 0.01 | Wald ratio | 1 | trans | NA |
| Height | 0.0126 | 0.0052 | 0.015 | Wald ratio | 1 | trans | NA |
| Percent emphysema | -0.0319 | 0.0138 | 0.0205 | Wald ratio | 1 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.00688 | 0.003 | 0.0218 | Wald ratio | 1 | trans | NA |
| Serum creatinine (eGFRcrea) | 0.00309 | 0.0014 | 0.0278 | Wald ratio | 1 | trans | NA |
| …and 87 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
10 association rows across 8 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 |
|---|---|---|---|---|---|
| Cerebrospinal fluid protein HAAO levels | 4e-132 | rs55802110 | 1 | GCST90944346 | no MR -> candidate analysis |
| Hypospadias | 4e-34 | rs3816183 | 1 | GCST002563 | no MR -> candidate analysis |
| Mean spheric corpuscular volume | 2e-11 | rs62143187 | 1 | GCST90002397 | no MR -> candidate analysis |
| Insomnia | 1e-10 | rs4953657 | 2 | GCST90131901 | no MR -> candidate analysis |
| Protein quantitative trait loci (liver) | 3e-9 | rs2278581 | 2 | GCST011427 | no MR -> candidate analysis |
| Educational attainment | 8e-8 | rs13016201 | 1 | GCST90105038 | no MR -> candidate analysis |
| Plasma anastrozole concentration in anastrozole-treated estr | 1e-6 | rs1065643 | 1 | GCST007664 | no MR -> candidate analysis |
| Cognitive resilience to Alzheimer’s disease pathology (combi | 5e-6 | rs2304661 | 1 | GCST90239696 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 947 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 |
|---|---|---|---|---|
| vertebral, cardiac, renal, and limb defects syndrome 1 | 0.808 | — | established (curated) | no MR -> candidate analysis |
| congenital vertebral-cardiac-renal anomalies syndrome | 0.795 | — | established (curated) | no MR -> candidate analysis |
| hypertensive disorder | 0.702 | — | common-variant locus | no MR -> candidate analysis |
| prostate carcinoma | 0.637 | — | common-variant locus | no MR -> candidate analysis |
| hypospadias | 0.55 | — | common-variant locus | no MR -> candidate analysis |
| benign prostatic hyperplasia | 0.559 | — | common-variant locus | no MR -> candidate analysis |
| Increased blood pressure | 0.555 | — | common-variant locus | no MR -> candidate analysis |
| cardiovascular disorder | 0.549 | — | common-variant locus | no MR -> candidate analysis |
| cerebral small vessel disease | 0.475 | — | common-variant locus | no MR -> candidate analysis |
| bone fracture | 0.458 | — | common-variant locus | no MR -> candidate analysis |
| prostate cancer | 0.45 | — | common-variant locus | MR: beta=0.0665, p=0.0799 (trans) |
| essential hypertension | 0.433 | — | common-variant locus | no MR -> candidate analysis |
| vein disorder | 0.367 | — | common-variant locus | no MR -> candidate analysis |
| acute tonsillitis | 0.367 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.354 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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 (3-hydroxyanthranilate 3,4-dioxygenase) |
| gnomAD constraint | pLI=4.4e-18, LOEUF=1.34 — LoF-tolerant |
| GWAS Catalog | 41 unique SNPs / 82 rows |
| ClinVar | 101 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 947 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 ‘HAAO’ and resolved to ‘3-hydroxyanthranilate 3,4-dioxygenase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 101 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 8 of 8 traits by best p-value, aggregated from 10 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/P46952 — 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/ENSG00000162882/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3108657/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/HAAO — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/HAAO — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=HAAO%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/HAAO — GWAS Catalog search API (live; release not exposed)