Protein Dossier — CA13 (Carbonic anhydrase 13)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Sleep duration |
-0.0146 |
0.00501 |
0.00355 |
Wald ratio |
1 |
cis |
NA |
| Hearing difficulty or problems: Yes |
-0.0282 |
0.0114 |
0.0132 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Other bones |
0.0646 |
0.0262 |
0.0136 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression |
0.236 |
0.101 |
0.0188 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: small intestine or small bowel cancer |
0.441 |
0.205 |
0.0312 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I84 Haemorrhoids |
-0.0965 |
0.0455 |
0.034 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
-0.132 |
0.0629 |
0.0354 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
-0.0463 |
0.0225 |
0.0398 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
0.156 |
0.0795 |
0.0501 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
0.0774 |
0.04 |
0.0529 |
Wald ratio |
1 |
cis |
NA |
| Fracture resulting from simple fall |
-0.0314 |
0.0176 |
0.0748 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages |
-0.192 |
0.11 |
0.0804 |
Wald ratio |
1 |
cis |
NA |
| …and 65 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3420_21_2 |
Carbonic anhydrase XIII |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
25 association rows across 21 traits (24 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 |
| CA13/PPIB protein level ratio |
4e-2106 |
rs7827175 |
1 |
GCST90313563 |
no MR -> candidate analysis |
| CA13/HARS1 protein level ratio |
2e-1610 |
rs7827175 |
1 |
GCST90313560 |
no MR -> candidate analysis |
| ANXA4/CA13 protein level ratio |
3e-1299 |
rs7827175 |
1 |
GCST90313290 |
no MR -> candidate analysis |
| CA13/LACTB2 protein level ratio |
3e-1242 |
rs7827175 |
1 |
GCST90313562 |
no MR -> candidate analysis |
| CA13/TYMP protein level ratio |
7e-870 |
rs7827175 |
1 |
GCST90313568 |
no MR -> candidate analysis |
| CA13/STAMBP protein level ratio |
4e-797 |
rs7827175 |
1 |
GCST90313566 |
no MR -> candidate analysis |
| CA13/COMT protein level ratio |
1e-795 |
rs7827175 |
1 |
GCST90313557 |
no MR -> candidate analysis |
| CA13/VTA1 protein level ratio |
5e-688 |
rs7827175 |
1 |
GCST90313570 |
no MR -> candidate analysis |
| Circulating CA13 levels |
5e-637 |
rs56072918 |
2 |
GCST90860354 |
no MR -> candidate analysis |
| CA13/QDPR protein level ratio |
2e-539 |
rs7827175 |
1 |
GCST90313564 |
no MR -> candidate analysis |
| ABHD14B/CA13 protein level ratio |
3e-508 |
rs7827175 |
1 |
GCST90313138 |
no MR -> candidate analysis |
| CA13/DPP7 protein level ratio |
2e-367 |
rs7827175 |
1 |
GCST90313558 |
no MR -> candidate analysis |
| …and 9 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 49 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 |
| Genu valgum |
0.376 |
— |
common-variant locus |
no MR -> candidate analysis |
| Genu varum |
0.376 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 2 rows above, 2 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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Carbonic anhydrase 13) |
| gnomAD constraint |
pLI=2.2e-05, LOEUF=0.959 — LoF-tolerant |
| GWAS Catalog |
40 unique SNPs / 80 rows |
| ClinVar |
88 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 49 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 ‘CA13’ and resolved to ‘Carbonic anhydrase 13’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 88 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 21 traits by best p-value, aggregated from 25 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/Q8N1Q1 — 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/ENSG00000185015/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3912/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CA13 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CA13 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CA13%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CA13 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:24:47 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none