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 |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: hypertension | -0.0296 | 0.00726 | 4.46e-05 | Wald ratio | 1 | cis | NA |
| Lung adenocarcinoma | 0.146 | 0.0431 | 6.94e-04 | Wald ratio | 1 | cis | NA |
| Sodium in urine | 0.0128 | 0.00407 | 0.00167 | Wald ratio | 1 | cis | NA |
| Birth weight | -0.0189 | 0.00617 | 0.00225 | Wald ratio | 1 | cis | NA |
| Height | -0.0146 | 0.00515 | 0.00461 | Wald ratio | 1 | cis | NA |
| Alzheimer’s disease | -0.0746 | 0.0266 | 0.00501 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Diabetes related eye disease | -0.176 | 0.0635 | 0.00557 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: arthritis (nos) | 0.11 | 0.0427 | 0.00983 | Wald ratio | 1 | cis | NA |
| Schizophrenia | -0.0453 | 0.0182 | 0.0128 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: high cholesterol | -0.0281 | 0.0115 | 0.0144 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions | 0.124 | 0.0542 | 0.0216 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | -0.0964 | 0.0432 | 0.0256 | Wald ratio | 1 | cis | NA |
| …and 95 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
80 association rows across 55 traits (75 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 |
|---|---|---|---|---|---|
| Angiotensin-converting enzyme levels | 2e-746 | rs4353 | 3 | GCST90246413 | no MR -> candidate analysis |
| Serum levels of protein ACE | 2e-257 | rs4363 | 1 | GCST90086419 | no MR -> candidate analysis |
| Blood protein levels | 9e-136 | rs4344 | 1 | GCST006585 | no MR -> candidate analysis |
| Height | 6e-121 | rs8075924 | 3 | GCST90245848 | MR: beta=-0.0146, p=0.00461 (cis) |
| Metabolite levels (leucylalanine) | 1e-70 | rs4363 | 2 | GCST90299880 | no MR -> candidate analysis |
| ACE protein levels | 3e-53 | rs4359 | 3 | GCST90453172 | no MR -> candidate analysis |
| Metabolite levels (serylleucine) | 1e-48 | rs4363 | 1 | GCST90299888 | no MR -> candidate analysis |
| Serum metabolite levels | 2e-41 | rs4343 | 9 | GCST012020 | no MR -> candidate analysis |
| Metabolite levels (alpha-glutamylglutamate) | 6e-41 | rs4363 | 1 | GCST90299528 | no MR -> candidate analysis |
| Aspartylphenylalanine-to-X-14450–phenylalanylleucine ratio | 1e-37 | rs4343 | 1 | GCST90243899 | no MR -> candidate analysis |
| Cerebrospinal fluid protein ACE levels | 5e-37 | rs4311 | 1 | GCST90944935 | no MR -> candidate analysis |
| Metabolite levels (aspartylphenylalanine) | 2e-29 | rs4363 | 1 | GCST90299547 | no MR -> candidate analysis |
| …and 43 more traits (see JSON) |
Top diseases by Open Targets association (of 2523 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 |
|---|---|---|---|---|
| hypertensive disorder | 0.806 | — | common-variant locus | no MR -> candidate analysis |
| renal tubular dysgenesis | 0.894 | — | established (curated) | no MR -> candidate analysis |
| renal tubular dysgenesis of genetic origin | 0.841 | — | established (curated) | no MR -> candidate analysis |
| cardiovascular disorder | 0.649 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.55 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.755 | — | common-variant locus | no MR -> candidate analysis |
| neurodegenerative disease | 0.5 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.706 | — | common-variant locus | no MR -> candidate analysis |
| Alzheimer disease | 0.81 | — | common-variant locus | no MR -> candidate analysis |
| congenital anomaly of kidney and urinary tract | 0.426 | — | established (curated) | no MR -> candidate analysis |
| dementia | 0.691 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.682 | — | established (curated) | no MR -> candidate analysis |
| schizophrenia | 0.614 | — | common-variant locus | MR: beta=-0.0453, p=0.0128 (cis) |
Of the 13 rows above, 12 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 | 17 known modulators (Angiotensin-converting enzyme) |
| gnomAD constraint | pLI=7.6e-31, LOEUF=0.874 — LoF-tolerant |
| GWAS Catalog | 73 unique SNPs / 146 rows |
| ClinVar | 861 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 27 clinical annotations across 31 drugs |
phenome — Top 30 of 2523 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 ‘ACE’ and resolved to ‘Angiotensin-converting enzyme’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 861 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 55 traits by best p-value, aggregated from 80 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/P12821 — 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/ENSG00000159640/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1808/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ACE — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ACE — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ACE%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=ACE — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/ACE — GWAS Catalog search API (live; release not exposed)