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 |
|---|---|---|---|---|---|---|---|
| Diastolic blood pressure automated reading | -0.121 | 0.0142 | 1.99e-17 | Wald ratio | 1 | cis | 0.908 |
| Diagnoses - main ICD10: M72 Fibroblastic disorders | 0.632 | 0.102 | 4.96e-10 | Wald ratio | 1 | cis | 0.756 |
| Height | -0.101 | 0.0163 | 6.56e-10 | Wald ratio | 1 | cis | 0.6 |
| Systolic blood pressure automated reading | 0.0863 | 0.0142 | 1.31e-09 | Wald ratio | 1 | cis | 0.825 |
| Forced vital capacity (FVC) | -0.0654 | 0.0114 | 9.43e-09 | Wald ratio | 1 | cis | 0.876 |
| Weight | -0.0496 | 0.0123 | 5.17e-05 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0457 | 0.012 | 1.41e-04 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | 0.312 | 0.0921 | 6.94e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: anxiety or panic attacks | 0.28 | 0.0912 | 0.00211 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine | -0.393 | 0.149 | 0.00818 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I84 Haemorrhoids | -0.273 | 0.119 | 0.022 | Wald ratio | 1 | cis | NA |
| Lung cancer | -0.228 | 0.0997 | 0.022 | Wald ratio | 1 | cis | NA |
| …and 102 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
No GWAS Catalog associations mapped to this gene.
Top diseases by Open Targets association (of 210 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 |
|---|---|---|---|---|
| intellectual disability, X-linked, syndromic, 35 | 0.822 | — | established (curated) | no MR -> candidate analysis |
Of the 1 rows above, 1 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 | not available |
| GWAS Catalog | 1 unique SNPs / 2 rows |
| ClinVar | no records |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 210 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 ‘NOV’.gnomad — No gnomAD constraint data.clinvar — No ClinVar records.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — No GWAS Catalog associations mapped to this gene.uniprot: https://www.uniprot.org/uniprotkb/Q9UIW2 — 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/ENSG00000147403/associations — Open Targets data release 26.06gwas: https://www.ebi.ac.uk/gwas/genes/NOV — GWAS Catalog REST (live; release not exposed by this endpoint)