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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: L03 Cellulitis | 0.229 | 0.0776 | 0.00321 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | 0.159 | 0.0581 | 0.00611 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | 0.173 | 0.0695 | 0.0128 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | -0.0319 | 0.0129 | 0.0132 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse | 0.227 | 0.095 | 0.0171 | Wald ratio | 1 | cis | NA |
| Vascular or heart problems diagnosed by doctor: Angina | 0.101 | 0.0442 | 0.0217 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | 0.142 | 0.0631 | 0.025 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | -0.0821 | 0.0368 | 0.0258 | Wald ratio | 1 | cis | NA |
| Amygdala volume | 17 | 8.35 | 0.0415 | Wald ratio | 1 | cis | NA |
| Neuroticism | 0.0248 | 0.0124 | 0.0455 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions | 0.211 | 0.106 | 0.046 | Wald ratio | 1 | cis | NA |
| Happiness | 0.0207 | 0.0108 | 0.055 | Wald ratio | 1 | cis | NA |
| …and 52 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
51 association rows across 37 traits (46 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 |
|---|---|---|---|---|---|
| Cytohesin-4 levels | 4e-395 | rs41298373 | 1 | GCST90421923 | no MR -> candidate analysis |
| Bone mineral density mean | 2e-238 | rs61836574 | 1 | GCST90321120 | no MR -> candidate analysis |
| ER degradation-enhancing alpha-mannosidase-like 2 levels | 2e-212 | rs41298373 | 1 | GCST90424081 | no MR -> candidate analysis |
| Blood protein levels | 1e-142 | rs73621225 | 5 | GCST006585 | no MR -> candidate analysis |
| Inter-alpha-trypsin inhibitor heavy chain H5 levels | 1e-81 | rs6602258 | 6 | GCST90247972 | no MR -> candidate analysis |
| Vertex-wise sulcal depth | 3e-64 | rs41298373 | 1 | GCST90095129 | no MR -> candidate analysis |
| ITIH5 protein levels | 1e-50 | rs41298373 | 1 | GCST90469652 | no MR -> candidate analysis |
| Brain morphology (MOSTest) | 1e-42 | rs41298373 | 2 | GCST90239729 | no MR -> candidate analysis |
| Left–right brain asymmetry | 5e-38 | rs41298373 | 1 | GCST90010427 | no MR -> candidate analysis |
| Vertex-wise cortical surface area | 1e-30 | rs41298373 | 1 | GCST90095130 | no MR -> candidate analysis |
| Cortical surface area (MOSTest) | 5e-30 | rs41298373 | 1 | GCST010701 | no MR -> candidate analysis |
| Inter-alpha-trypsin inhibitor heavy chain H5 levels (ITIH5.8 | 2e-29 | rs7909223 | 4 | GCST90241536 | no MR -> candidate analysis |
| …and 25 more traits (see JSON) |
Top diseases by Open Targets association (of 291 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 |
|---|---|---|---|---|
| macular holes | 0.588 | — | common-variant locus | no MR -> candidate analysis |
| tympanic membrane perforation | 0.473 | — | common-variant locus | no MR -> candidate analysis |
| Hypernatremia | 0.468 | — | common-variant locus | no MR -> candidate analysis |
| Genetic renal or urinary tract malformation | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal pupillary function | 0.419 | — | common-variant locus | no MR -> candidate analysis |
| pneumonitis | 0.416 | — | common-variant locus | no MR -> candidate analysis |
| stricture | 0.416 | — | common-variant locus | no MR -> candidate analysis |
| Cachexia | 0.397 | — | common-variant locus | no MR -> candidate analysis |
| intracranial hemorrhage | 0.396 | — | common-variant locus | no MR -> candidate analysis |
| poisoning | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| response to antibiotic | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| allergic rhinitis | 0.081 | — | 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=6e-19, LOEUF=1.03 — LoF-tolerant |
| GWAS Catalog | 66 unique SNPs / 132 rows |
| ClinVar | 225 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 291 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 ‘ITIH5’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 225 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 37 traits by best p-value, aggregated from 51 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/Q86UX2 — 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/ENSG00000123243/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ITIH5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ITIH5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ITIH5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ITIH5 — GWAS Catalog search API (live; release not exposed)