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 |
| Primary sclerosing cholangitis |
-0.214 |
0.0677 |
0.00157 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: B37 Candidiasis |
0.449 |
0.151 |
0.00294 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0242 |
0.00845 |
0.00411 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
0.166 |
0.0602 |
0.00586 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: retinal detachment |
0.19 |
0.07 |
0.00653 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bone disorder |
0.214 |
0.0839 |
0.0106 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vitiligo |
0.465 |
0.192 |
0.0154 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
-0.088 |
0.0381 |
0.0208 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
0.0871 |
0.0379 |
0.0218 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K43 Ventral hernia |
-0.17 |
0.0867 |
0.0503 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.0352 |
0.0192 |
0.0668 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.00871 |
0.00476 |
0.067 |
Wald ratio |
1 |
cis |
NA |
| …and 70 more outcomes (see JSON) |
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|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3175_51_5 |
ATS13 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
147 association rows across 95 traits (138 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 ADAMTS13 levels |
2e-839 |
rs74715985 |
7 |
GCST90859747 |
no MR -> candidate analysis |
| Circulating ICAM2 levels |
3e-644 |
rs149181677 |
1 |
GCST90859991 |
no MR -> candidate analysis |
| Circulating IL7R levels |
5e-423 |
rs149181677 |
1 |
GCST90860451 |
no MR -> candidate analysis |
| A disintegrin and metalloproteinase with thrombospondin moti |
3e-420 |
rs35516997 |
8 |
GCST90246427 |
no MR -> candidate analysis |
| Circulating TIE1 levels |
2e-302 |
rs41296094 |
1 |
GCST90860467 |
no MR -> candidate analysis |
| SELE protein levels |
5e-231 |
rs35355611 |
2 |
GCST90470566 |
no MR -> candidate analysis |
| Serum alkaline phosphatase levels |
1e-181 |
rs4962050 |
5 |
GCST90019494 |
no MR -> candidate analysis |
| Circulating LGALS8 levels |
2e-161 |
rs149181677 |
1 |
GCST90859688 |
no MR -> candidate analysis |
| TIE1 protein levels |
3e-151 |
rs28446901 |
1 |
GCST90470863 |
no MR -> candidate analysis |
| Circulating PCDH17 levels |
4e-149 |
rs41296094 |
2 |
GCST90860509 |
no MR -> candidate analysis |
| Serum levels of protein ADAMTS13 |
5e-122 |
rs34054981 |
3 |
GCST90088247 |
no MR -> candidate analysis |
| A disintegrin and metalloproteinase with thrombospondin moti |
4e-103 |
rs71503194 |
4 |
GCST90240161 |
no MR -> candidate analysis |
| …and 83 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 634 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 |
| congenital thrombotic thrombocytopenic purpura |
0.947 |
— |
established (curated) |
no MR -> candidate analysis |
| thrombotic thrombocytopenic purpura |
0.861 |
— |
established (curated) |
no MR -> candidate analysis |
| Thrombocytopenia |
0.593 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormal bleeding |
0.593 |
— |
established (curated) |
no MR -> candidate analysis |
| atypical hemolytic-uremic syndrome |
0.491 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.319 |
— |
established (curated) |
no MR -> candidate analysis |
| thrombotic disease |
0.265 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 7 rows above, 7 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 |
1 known modulators (A disintegrin and metalloproteinase with thrombospondin motifs 13) |
| gnomAD constraint |
pLI=5.1e-26, LOEUF=0.831 — LoF-tolerant |
| GWAS Catalog |
190 unique SNPs / 540 rows |
| ClinVar |
1259 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 634 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 ‘ADAMTS13’ and resolved to ‘A disintegrin and metalloproteinase with thrombospondin motifs 13’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 1259 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 95 traits by best p-value, aggregated from 147 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/Q76LX8 — 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/ENSG00000160323/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2346492/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ADAMTS13 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ADAMTS13 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ADAMTS13%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ADAMTS13 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T00:48:54 · 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