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 |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: hypertension | -0.0188 | 0.00747 | 0.0116 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K43 Ventral hernia | 0.127 | 0.057 | 0.0261 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.0712 | 0.0335 | 0.0334 | Wald ratio | 1 | cis | NA |
| Cough on most days | 0.0431 | 0.0211 | 0.0405 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoporosis | -0.0741 | 0.0372 | 0.0464 | Wald ratio | 1 | cis | NA |
| Sodium in urine | -0.00802 | 0.00423 | 0.0578 | Wald ratio | 1 | cis | NA |
| Pulse rate | -0.0144 | 0.00761 | 0.0593 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | -0.0507 | 0.0275 | 0.0654 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | 0.0616 | 0.0337 | 0.0675 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | -0.00803 | 0.0044 | 0.0681 | Wald ratio | 1 | cis | NA |
| Lung cancer | -0.0501 | 0.0276 | 0.0697 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone | -0.096 | 0.0536 | 0.0732 | Wald ratio | 1 | cis | NA |
| …and 83 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
73 association rows across 54 traits (69 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 |
|---|---|---|---|---|---|
| Circulating PTX3 levels | 9e-562 | rs10795566 | 2 | GCST90859797 | no MR -> candidate analysis |
| Inter-alpha-trypsin inhibitor heavy chain H2 levels | 6e-490 | rs4463754 | 4 | GCST90247969 | no MR -> candidate analysis |
| Serum levels of protein ITIH2 | 2e-272 | rs73621240 | 1 | GCST90090631 | no MR -> candidate analysis |
| Pentraxin-related protein PTX3 levels | 1e-239 | rs35524242 | 1 | GCST90012037 | no MR -> candidate analysis |
| ERP44 protein levels | 3e-211 | rs3802589 | 4 | GCST90469150 | no MR -> candidate analysis |
| Blood protein levels | 1e-142 | rs73621225 | 4 | GCST006585 | no MR -> candidate analysis |
| NAD-dependent protein deacetylase sirtuin-2 levels | 3e-119 | rs41290289 | 2 | GCST90248584 | no MR -> candidate analysis |
| Serum levels of protein SIRT2 | 2e-84 | rs6602268 | 2 | GCST90088884 | no MR -> candidate analysis |
| Inter-alpha-trypsin inhibitor heavy chain H1 levels | 4e-68 | rs73621263 | 1 | GCST90247968 | no MR -> candidate analysis |
| Osteopontin levels | 3e-67 | rs7913729 | 1 | GCST90248798 | no MR -> candidate analysis |
| Angiogenic factor with G patch and FHA domains 1 levels | 9e-62 | rs41290289 | 1 | GCST90246457 | no MR -> candidate analysis |
| Carbonic anhydrase 4 levels | 6e-60 | rs41290289 | 2 | GCST90246864 | no MR -> candidate analysis |
| …and 42 more traits (see JSON) |
Top diseases by Open Targets association (of 133 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 |
|---|---|---|---|---|
| acute tonsillitis | 0.563 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| metabolic dysfunction-associated steatotic liver disease | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| adverse effect | 0.421 | — | common-variant locus | no MR -> candidate analysis |
| diaphragm disorder | 0.419 | — | common-variant locus | no MR -> candidate analysis |
| response to antibiotic | 0.08 | — | common-variant locus | no MR -> candidate analysis |
| poisoning | 0.08 | — | common-variant locus | no MR -> candidate analysis |
| intracranial hemorrhage | 0.079 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal pupillary function | 0.078 | — | common-variant locus | no MR -> candidate analysis |
| Cachexia | 0.056 | — | common-variant locus | no MR -> candidate analysis |
| allergic asthma | 0.039 | — | common-variant locus | no MR -> candidate analysis |
| tympanic membrane perforation | 0.031 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 12 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 (Inter-alpha-trypsin inhibitor heavy chain H2) |
| gnomAD constraint | pLI=6.1e-35, LOEUF=1.16 — LoF-tolerant |
| GWAS Catalog | 71 unique SNPs / 141 rows |
| ClinVar | 191 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 133 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 ‘ITIH2’ and resolved to ‘Inter-alpha-trypsin inhibitor heavy chain H2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 191 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 20 of 54 traits by best p-value, aggregated from 73 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/P19823 — 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/ENSG00000151655/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295727/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ITIH2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ITIH2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ITIH2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ITIH2 — GWAS Catalog search API (live; release not exposed)