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 |
|---|---|---|---|---|---|---|---|
| Schizophrenia | -0.192 | 0.029 | 3.53e-11 | Wald ratio | 1 | cis | NA |
| PGC cross-disorder traits | -0.221 | 0.0336 | 5.13e-11 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | 0.0374 | 0.0066 | 1.44e-08 | Wald ratio | 1 | cis | NA |
| Bipolar disorder | -0.322 | 0.0678 | 1.96e-06 | Wald ratio | 1 | cis | NA |
| Height | -0.0383 | 0.0082 | 3.06e-06 | Wald ratio | 1 | cis | NA |
| Knee and hip osteoarthritis | 0.26 | 0.0568 | 4.55e-06 | Wald ratio | 1 | cis | NA |
| Hip osteoarthritis | 0.334 | 0.0799 | 2.94e-05 | Wald ratio | 1 | cis | NA |
| Pulse rate | -0.0465 | 0.0116 | 6.47e-05 | Wald ratio | 1 | cis | NA |
| Weight | 0.0211 | 0.00583 | 2.90e-04 | Wald ratio | 1 | cis | NA |
| Autism | -0.257 | 0.0784 | 0.00104 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | -0.224 | 0.0692 | 0.00121 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | -0.189 | 0.0609 | 0.00195 | Wald ratio | 1 | cis | NA |
| …and 123 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
190 association rows across 140 traits (180 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 |
|---|---|---|---|---|---|
| ITIH3/VCAM1 protein level ratio | 1e-540 | rs736408 | 1 | GCST90315236 | no MR -> candidate analysis |
| Inter-alpha-trypsin inhibitor heavy chain H3 levels | 6e-463 | rs2535629 | 3 | GCST90247970 | no MR -> candidate analysis |
| ITIH4 protein levels | 1e-276 | rs4687552 | 3 | GCST90469651 | no MR -> candidate analysis |
| Retinoblastoma-like protein 2 levels | 1e-273 | rs736408 | 3 | GCST90249250 | no MR -> candidate analysis |
| Height | 4e-269 | rs2535629 | 5 | GCST90245848 | MR: beta=-0.0383, p=3.06e-06 (cis) |
| Blood protein levels | 1e-195 | rs2535627 | 8 | GCST006585 | no MR -> candidate analysis |
| Circulating BLMH levels | 8e-142 | rs2710338 | 1 | GCST90859929 | no MR -> candidate analysis |
| Serum levels of protein ITIH3 | 2e-89 | rs2535627 | 1 | GCST90089692 | no MR -> candidate analysis |
| Serum levels of protein RBL2 | 1e-82 | rs736408 | 1 | GCST90087529 | no MR -> candidate analysis |
| ITIH3 protein levels | 4e-71 | rs736408 | 2 | GCST90453267 | no MR -> candidate analysis |
| Circulating PTS levels | 7e-35 | rs2710335 | 1 | GCST90860729 | no MR -> candidate analysis |
| Height (maximum, inv-normal transformed) | 2e-34 | rs4687552 | 1 | GCST90479634 | no MR -> candidate analysis |
| …and 128 more traits (see JSON) |
Top diseases by Open Targets association (of 181 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 |
|---|---|---|---|---|
| Abnormality of the skeletal system | 0.81 | — | common-variant locus | no MR -> candidate analysis |
| schizophrenia | 0.708 | — | common-variant locus | MR: beta=-0.192, p=3.53e-11 (cis) |
| major depressive disorder | 0.664 | — | common-variant locus | MR: beta=-0.131, p=0.0268 (cis) |
| bipolar disorder | 0.666 | — | common-variant locus | MR: beta=-0.322, p=1.96e-06 (cis) |
| autism spectrum disorder | 0.638 | — | common-variant locus | no MR -> candidate analysis |
| attention deficit-hyperactivity disorder | 0.603 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.472 | — | common-variant locus | no MR -> candidate analysis |
| risk-taking behaviour | 0.469 | — | common-variant locus | no MR -> candidate analysis |
| obsessive-compulsive disorder | 0.444 | — | common-variant locus | no MR -> candidate analysis |
| anorexia nervosa | 0.444 | — | common-variant locus | no MR -> candidate analysis |
| Tourette syndrome | 0.444 | — | common-variant locus | no MR -> candidate analysis |
| mental disorder | 0.398 | — | common-variant locus | no MR -> candidate analysis |
| carpal tunnel syndrome | 0.358 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.299 | — | common-variant locus | MR: beta=0.26, p=4.55e-06 (cis) |
| anxiety disorder | 0.297 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 11 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=2.3e-23, LOEUF=1.01 — LoF-tolerant |
| GWAS Catalog | 171 unique SNPs / 421 rows |
| ClinVar | 165 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 181 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘ITIH3’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 165 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 140 traits by best p-value, aggregated from 190 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/Q06033 — 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/ENSG00000162267/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ITIH3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ITIH3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ITIH3%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=ITIH3 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/ITIH3 — GWAS Catalog search API (live; release not exposed)