Protein Dossier — TEK (Angiopoietin-1 receptor)
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 |
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis |
2.33 |
0.231 |
5.67e-24 |
Wald ratio |
1 |
cis |
0.908 |
| Diagnoses - main ICD10: K40 Inguinal hernia |
-0.21 |
0.0775 |
0.00681 |
Wald ratio |
1 |
cis |
NA |
| Happiness |
0.0305 |
0.0125 |
0.0146 |
Wald ratio |
1 |
cis |
NA |
| Haemoglobin concentration |
0.0619 |
0.0269 |
0.0214 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: retinal detachment |
0.303 |
0.134 |
0.0241 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
-0.0345 |
0.016 |
0.031 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D25 Leiomyoma of uterus |
0.163 |
0.077 |
0.0339 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
0.0911 |
0.0436 |
0.0366 |
Wald ratio |
1 |
cis |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0973 |
0.0467 |
0.0371 |
Wald ratio |
1 |
cis |
NA |
| Fasting glucose |
-0.0269 |
0.0135 |
0.0455 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: H25 Senile cataract |
0.189 |
0.0975 |
0.0529 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
0.138 |
0.0739 |
0.0617 |
Wald ratio |
1 |
cis |
NA |
| …and 91 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3773_15_4 |
sTie-2 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
65 association rows across 38 traits (41 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 TEK levels (id: OID00398_OID21496) |
1e-955 |
rs511619 |
5 |
GCST90859760 |
no MR -> candidate analysis |
| Circulating TEK levels (id: OID00754_OID21496) |
9e-782 |
rs511619 |
5 |
GCST90860090 |
no MR -> candidate analysis |
| Angiopoietin-1 receptor levels |
7e-300 |
rs35030851 |
4 |
GCST90012013 |
no MR -> candidate analysis |
| TEK protein levels |
4e-108 |
rs927369 |
8 |
GCST90470829 |
no MR -> candidate analysis |
| Angiopoietin-1 receptor, soluble levels |
1e-81 |
rs117982767 |
7 |
GCST90246503 |
no MR -> candidate analysis |
| Endothelial growth factor levels |
2e-65 |
rs2273720 |
1 |
GCST002731 |
no MR -> candidate analysis |
| Blood protein levels in cardiovascular risk |
1e-30 |
rs79250370 |
1 |
GCST009731 |
no MR -> candidate analysis |
| Angiopoietin-1 receptor, soluble levels (TEK.3773.15.4) |
1e-22 |
rs35030851 |
1 |
GCST90240281 |
no MR -> candidate analysis |
| Serum levels of protein TEK |
4e-16 |
rs117982767 |
2 |
GCST90088510 |
no MR -> candidate analysis |
| Blood protein levels |
3e-11 |
rs2273720 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein TEK levels |
7e-11 |
rs11791924 |
1 |
GCST90944615 |
no MR -> candidate analysis |
| Free Cholesterol to Cholesteryl Esters in Small HDL ratio |
1e-10 |
rs117216566 |
1 |
GCST90827928 |
no MR -> candidate analysis |
| …and 26 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 868 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 |
| multiple cutaneous and mucosal venous malformations |
0.904 |
— |
established (curated) |
no MR -> candidate analysis |
| Mucocutaneous venous malformations |
0.847 |
— |
established (curated) |
no MR -> candidate analysis |
| congenital glaucoma |
0.815 |
— |
established (curated) |
no MR -> candidate analysis |
| Venous malformation |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| blue rubber bleb nevus |
0.559 |
— |
established (curated) |
no MR -> candidate analysis |
| ventricular septal defect |
0.559 |
— |
established (curated) |
no MR -> candidate analysis |
| neutropenia, severe congenital, 2, autosomal dominant |
0.486 |
— |
established (curated) |
no MR -> candidate analysis |
| skin vascular disease |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| pituitary gland disorder |
0.416 |
— |
common-variant locus |
no MR -> candidate analysis |
| diabetes mellitus |
0.387 |
— |
common-variant locus |
no MR -> candidate analysis |
| self-injurious ideation |
0.411 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 rows above, 11 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 |
8 known modulators (Angiopoietin-1 receptor) |
| gnomAD constraint |
pLI=1, LOEUF=0.421 — LoF-INTOLERANT |
| GWAS Catalog |
60 unique SNPs / 119 rows |
| ClinVar |
586 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 868 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 ‘TEK’ and resolved to ‘Angiopoietin-1 receptor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 586 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 38 traits by best p-value, aggregated from 65 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/Q02763 — 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/ENSG00000120156/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4128/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/TEK — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/TEK — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=TEK%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/TEK — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:18:35 · 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