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 |
|---|---|---|---|---|---|---|---|
| Body mass index (BMI) | 0.0318 | 0.0122 | 0.00907 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.323 | 0.125 | 0.00965 | Wald ratio | 1 | trans | NA |
| Lung cancer | -0.206 | 0.0869 | 0.0177 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.299 | 0.134 | 0.0258 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: bone disorder | 0.403 | 0.181 | 0.0258 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | 0.219 | 0.1 | 0.0283 | Wald ratio | 1 | trans | NA |
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis | 1.75 | 0.82 | 0.0327 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone | 0.235 | 0.11 | 0.0335 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | 0.155 | 0.0756 | 0.0402 | Wald ratio | 1 | trans | NA |
| Weight | 0.0213 | 0.0108 | 0.0478 | Wald ratio | 1 | trans | NA |
| Lung adenocarcinoma | -0.247 | 0.132 | 0.0614 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.192 | 0.106 | 0.0697 | Wald ratio | 1 | trans | NA |
| …and 70 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
40 association rows across 25 traits (34 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 |
|---|---|---|---|---|---|
| Circulating CA5A levels | 3e-3386 | rs55870502 | 4 | GCST90859825 | no MR -> candidate analysis |
| AGXT/CA5A protein level ratio | 6e-3164 | rs7186698 | 1 | GCST90313204 | no MR -> candidate analysis |
| ADH4/CA5A protein level ratio | 4e-3116 | rs7186698 | 1 | GCST90313189 | no MR -> candidate analysis |
| CA5A/GSTA1 protein level ratio | 8e-3008 | rs7186698 | 1 | GCST90313591 | no MR -> candidate analysis |
| CA5A/KRT18 protein level ratio | 1e-2981 | rs7186698 | 1 | GCST90313592 | no MR -> candidate analysis |
| CA5A/SULT2A1 protein level ratio | 2e-2715 | rs7186698 | 1 | GCST90313593 | no MR -> candidate analysis |
| CA5A/GRPEL1 protein level ratio | 7e-2565 | rs7186698 | 1 | GCST90313590 | no MR -> candidate analysis |
| CA5A protein levels | 9e-171 | rs8053752 | 10 | GCST90468514 | no MR -> candidate analysis |
| Carbonic anhydrase 5A,mitochondrial levels | 3e-155 | rs55870502 | 1 | GCST90179238 | no MR -> candidate analysis |
| Basophil percentage of granulocytes | 9e-13 | rs8056952 | 1 | GCST004634 | no MR -> candidate analysis |
| Basophil percentage of white cells | 1e-12 | rs8056952 | 1 | GCST004631 | no MR -> candidate analysis |
| Hair colour (natural, before greying): Red (UKB data field 1 | 3e-12 | rs182303497 | 1 | GCST90041837 | no MR -> candidate analysis |
| …and 13 more traits (see JSON) |
Top diseases by Open Targets association (of 106 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 |
|---|---|---|---|---|
| hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 0.82 | — | established (curated) | no MR -> candidate analysis |
| urolithiasis | 0.401 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.317 | — | established (curated) | no MR -> candidate analysis |
| placenta praevia | 0.308 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis | 0.208 | — | common-variant locus | no MR -> candidate analysis |
| multinodular goiter | 0.093 | — | common-variant locus | no MR -> candidate analysis |
| musculoskeletal system disorder | 0.091 | — | common-variant locus | no MR -> candidate analysis |
| pulmonary embolism | 0.09 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.057 | — | common-variant locus | no MR -> candidate analysis |
| breast carcinoma | 0.037 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.06 | — | common-variant locus | no MR -> candidate analysis |
| Jaundice | 0.058 | — | common-variant locus | no MR -> candidate analysis |
| hidradenitis | 0.052 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.048 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.048 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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 | 0 known modulators (Carbonic anhydrase 5A, mitochondrial) |
| gnomAD constraint | pLI=6.5e-08, LOEUF=1.03 — LoF-tolerant |
| GWAS Catalog | 125 unique SNPs / 277 rows |
| ClinVar | 315 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 106 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘CA5A’ and resolved to ‘Carbonic anhydrase 5A, mitochondrial’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 315 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 25 traits by best p-value, aggregated from 40 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/P35218 — 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/ENSG00000174990/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4789/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CA5A — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CA5A — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CA5A%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CA5A — GWAS Catalog search API (live; release not exposed)