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 |
|---|---|---|---|---|---|---|---|
| Height | 0.0414 | 0.00754 | 4.01e-08 | Wald ratio | 1 | cis | NA |
| Weight | 0.018 | 0.00545 | 9.29e-04 | Wald ratio | 1 | cis | NA |
| Urate | 0.0444 | 0.0138 | 0.00126 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | -0.0862 | 0.0285 | 0.00249 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.119 | 0.0475 | 0.0121 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | -0.0738 | 0.0296 | 0.0126 | Wald ratio | 1 | cis | NA |
| Neuroticism | -0.0207 | 0.00888 | 0.0196 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | -0.243 | 0.111 | 0.0284 | Wald ratio | 1 | cis | NA |
| Eczema | 0.0967 | 0.0459 | 0.0353 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Other bones | 0.0529 | 0.0255 | 0.038 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | -0.044 | 0.0216 | 0.0417 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G47 Sleep disorders | -0.197 | 0.0991 | 0.0472 | 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).
35 association rows across 29 traits (32 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 |
|---|---|---|---|---|---|
| PDZ and LIM domain protein 4 levels | 2e-104 | rs4877 | 1 | GCST90248933 | no MR -> candidate analysis |
| Height | 7e-85 | rs7735891 | 3 | GCST90435412 | MR: beta=0.0414, p=4.01e-08 (cis) |
| Appendicular lean mass | 1e-42 | rs7735891 | 1 | GCST90000025 | no MR -> candidate analysis |
| Physical function (baseline) | 6e-42 | rs10479000 | 1 | GCST90565837 | no MR -> candidate analysis |
| Lymphocyte count | 6e-33 | rs10076701 | 2 | GCST90002316 | no MR -> candidate analysis |
| lymphocyte (absolute count, mean, inv-norm transformed) | 4e-21 | rs55633655 | 1 | GCST90475426 | no MR -> candidate analysis |
| N,N,N-trimethyl-5-aminovalerate levels | 7e-21 | rs10479001 | 1 | GCST90200147 | no MR -> candidate analysis |
| lymphocyte (absolute count, maximum, inv-norm transformed) | 1e-20 | rs55633655 | 2 | GCST90475423 | no MR -> candidate analysis |
| Mosquito bite size | 3e-20 | rs55722650 | 1 | GCST004863 | no MR -> candidate analysis |
| Lymphocyte count (UKB data field 30120) | 1e-19 | rs10076701 | 1 | GCST90468082 | no MR -> candidate analysis |
| Height (baseline) | 2e-19 | rs162882 | 2 | GCST90565843 | no MR -> candidate analysis |
| Urate levels (UKB data field 30880) | 2e-16 | rs7736102 | 1 | GCST90468107 | no MR -> candidate analysis |
| …and 17 more traits (see JSON) |
Top diseases by Open Targets association (of 151 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 |
|---|---|---|---|---|
| dermatitis | 0.572 | — | common-variant locus | no MR -> candidate analysis |
| inflammatory bowel disease | 0.349 | — | common-variant locus | no MR -> candidate analysis |
| gout | 0.35 | — | common-variant locus | no MR -> candidate analysis |
| Eczematoid dermatitis | 0.284 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.254 | — | common-variant locus | no MR -> candidate analysis |
| Nasal polyposis | 0.21 | — | common-variant locus | no MR -> candidate analysis |
| allergic rhinitis | 0.16 | — | common-variant locus | MR: beta=-0.0271, p=0.298 (cis) |
| skin aging | 0.154 | — | common-variant locus | no MR -> candidate analysis |
| rosacea | 0.153 | — | common-variant locus | no MR -> candidate analysis |
| prurigo nodularis | 0.15 | — | common-variant locus | no MR -> candidate analysis |
| brain aneurysm | 0.134 | — | common-variant locus | no MR -> candidate analysis |
| chalazion | 0.111 | — | common-variant locus | no MR -> candidate analysis |
| asthma | 0.068 | — | common-variant locus | no MR -> candidate analysis |
| breast cancer | 0.075 | — | common-variant locus | MR: beta=-0.0269, p=0.348 (cis) |
| acne | 0.074 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 13 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=0.00023, LOEUF=0.89 — LoF-tolerant |
| GWAS Catalog | 146 unique SNPs / 368 rows |
| ClinVar | 67 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 151 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 ‘PDLIM4’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 67 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 29 traits by best p-value, aggregated from 35 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/P50479 — 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/ENSG00000131435/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PDLIM4 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PDLIM4 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PDLIM4%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PDLIM4 — GWAS Catalog search API (live; release not exposed)