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 |
|---|---|---|---|---|---|---|---|
| Systolic blood pressure automated reading | 0.0206 | 0.00652 | 0.00161 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Glaucoma | 0.145 | 0.046 | 0.00168 | Wald ratio | 1 | trans | NA |
| Fractured bone site(s): Wrist | 0.112 | 0.0407 | 0.00605 | Wald ratio | 1 | trans | NA |
| Cough on most days | 0.0811 | 0.0302 | 0.00717 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting | -0.389 | 0.154 | 0.0116 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Diabetes related eye disease | -0.247 | 0.106 | 0.0193 | Wald ratio | 1 | trans | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0764 | 0.0328 | 0.0198 | Wald ratio | 1 | trans | NA |
| Small vessel disease | -0.222 | 0.0965 | 0.0215 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: G47 Sleep disorders | 0.151 | 0.0719 | 0.0362 | Wald ratio | 1 | trans | NA |
| Forearm bone mineral density | 0.0858 | 0.0413 | 0.0379 | Wald ratio | 1 | trans | NA |
| Fractured bone site(s): Ankle | -0.128 | 0.0621 | 0.0395 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M54 Dorsalgia | 0.0923 | 0.0452 | 0.0411 | Wald ratio | 1 | trans | NA |
| …and 80 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
3 association rows across 2 traits (2 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 |
|---|---|---|---|---|---|
| Femur bone mineral density x serum urate levels interaction | 2e-13 | rs11752636 | 2 | GCST012490 | no MR -> candidate analysis |
| Spatial processing | 5e-6 | rs13203733 | 1 | GCST009306 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 436 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 |
|---|---|---|---|---|
| cone dystrophy 3 | 0.958 | — | established (curated) | no MR -> candidate analysis |
| Cone rod dystrophy | 0.853 | — | established (curated) | no MR -> candidate analysis |
| Progressive cone dystrophy | 0.847 | — | established (curated) | no MR -> candidate analysis |
| cone-rod dystrophy | 0.72 | — | established (curated) | no MR -> candidate analysis |
| cone-rod dystrophy 14 | 0.745 | — | established (curated) | no MR -> candidate analysis |
| Retinal dystrophy | 0.888 | — | established (curated) | no MR -> candidate analysis |
| Macular dystrophy | 0.654 | — | established (curated) | no MR -> candidate analysis |
| Rod-cone dystrophy | 0.486 | — | established (curated) | no MR -> candidate analysis |
| central areolar choroidal dystrophy | 0.608 | — | established (curated) | no MR -> candidate analysis |
| retinitis pigmentosa | 0.544 | — | established (curated) | no MR -> candidate analysis |
| Usher syndrome | 0.547 | — | established (curated) | no MR -> candidate analysis |
| retinal disorder | 0.559 | — | established (curated) | no MR -> candidate analysis |
| isolated macular dystrophy | 0.559 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.307 | — | established (curated) | 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=0.00016, LOEUF=1.18 — LoF-tolerant |
| GWAS Catalog | 20 unique SNPs / 40 rows |
| ClinVar | 297 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 436 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 ‘GUCA1A’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 297 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 2 of 2 traits by best p-value, aggregated from 3 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/P43080 — 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/ENSG00000048545/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/GUCA1A — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GUCA1A — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GUCA1A%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/GUCA1A — GWAS Catalog search API (live; release not exposed)