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 |
|---|---|---|---|---|---|---|---|
| Forced vital capacity (FVC) | -0.0494 | 0.0117 | 2.27e-05 | Wald ratio | 1 | cis | NA |
| Creatinine (enzymatic) in urine | 0.0504 | 0.0136 | 2.13e-04 | Wald ratio | 1 | cis | NA |
| Potassium in urine | 0.0503 | 0.0144 | 4.85e-04 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0421 | 0.0123 | 6.30e-04 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | 0.0945 | 0.0313 | 0.00255 | Wald ratio | 1 | cis | NA |
| Total cholesterol | 0.089 | 0.0308 | 0.00382 | Wald ratio | 1 | cis | NA |
| Childhood intelligence | -0.187 | 0.0775 | 0.0156 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions | 0.361 | 0.151 | 0.0167 | Wald ratio | 1 | cis | NA |
| Sodium in urine | 0.0334 | 0.014 | 0.0169 | Wald ratio | 1 | cis | NA |
| Internalizing problems | -0.302 | 0.13 | 0.0203 | Wald ratio | 1 | cis | NA |
| Amygdala volume | 31.5 | 13.7 | 0.0215 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level | 0.775 | 0.361 | 0.0318 | 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).
26 association rows across 24 traits (19 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 |
|---|---|---|---|---|---|
| Bone mineral density mean | 1e-300 | rs147981744 | 1 | GCST90321120 | no MR -> candidate analysis |
| Youthful appearance (self-reported) | 1e-51 | rs61263161 | 1 | GCST011011 | no MR -> candidate analysis |
| Plexin-A1 levels | 1e-50 | rs7644947 | 1 | GCST90249037 | no MR -> candidate analysis |
| Circulating SEMA3F levels | 3e-42 | rs9822602 | 1 | GCST90860355 | no MR -> candidate analysis |
| SEMA3F protein levels | 2e-29 | rs10934798 | 1 | GCST90470570 | no MR -> candidate analysis |
| Plexin-A1 levels (PLXNA1.9005.16.3) | 2e-21 | rs35154032 | 1 | GCST90242298 | no MR -> candidate analysis |
| Serum levels of protein PLXNA1 | 4e-20 | rs1347003 | 1 | GCST90090443 | no MR -> candidate analysis |
| Educational attainment | 7e-15 | rs1351665 | 1 | GCST90105038 | no MR -> candidate analysis |
| Platelet count | 3e-14 | rs1106863 | 2 | GCST90002361 | MR: beta=-36.3, p=0.443 (cis) |
| Blood protein levels | 1e-11 | rs891762 | 1 | GCST006585 | no MR -> candidate analysis |
| Hair color | 1e-10 | rs61263161 | 1 | GCST007082 | no MR -> candidate analysis |
| Gamma glutamyl transferase levels | 6e-10 | rs2033421 | 1 | GCST90662899 | no MR -> candidate analysis |
| …and 12 more traits (see JSON) |
Top diseases by Open Targets association (of 182 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 |
|---|---|---|---|---|
| Dworschak-Punetha neurodevelopmental syndrome | 0.887 | — | established (curated) | no MR -> candidate analysis |
| neurodevelopmental disorder | 0.669 | — | established (curated) | no MR -> candidate analysis |
| skin aging | 0.644 | — | common-variant locus | no MR -> candidate analysis |
| complex neurodevelopmental disorder | 0.608 | — | established (curated) | no MR -> candidate analysis |
| placental retention | 0.58 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.551 | — | common-variant locus | no MR -> candidate analysis |
| Apnea | 0.509 | — | common-variant locus | no MR -> candidate analysis |
| preeclampsia | 0.302 | — | common-variant locus | no MR -> candidate analysis |
| Parkinson disease | 0.195 | — | established (curated) | no MR -> candidate analysis |
| parkinsonian disorder | 0.195 | — | established (curated) | no MR -> candidate analysis |
| vascular parkinsonism | 0.195 | — | established (curated) | no MR -> candidate analysis |
| retinal disorder | 0.168 | — | common-variant locus | no MR -> candidate analysis |
| chronic intestinal vascular insufficiency | 0.132 | — | common-variant locus | no MR -> candidate analysis |
| Paralytic ileus | 0.122 | — | common-variant locus | no MR -> candidate analysis |
Of the 14 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=0.63, LOEUF=0.486 — LoF-tolerant |
| GWAS Catalog | 31 unique SNPs / 62 rows |
| ClinVar | 1076 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 182 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 ‘PLXNA1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 1076 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 24 traits by best p-value, aggregated from 26 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/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/ENSG00000114554/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PLXNA1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PLXNA1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PLXNA1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PLXNA1 — GWAS Catalog search API (live; release not exposed)