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 |
|---|---|---|---|---|---|---|---|
| Weight | -0.00895 | 0.00258 | 5.25e-04 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | -0.0801 | 0.0264 | 0.0024 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | 0.0663 | 0.0219 | 0.00249 | Wald ratio | 1 | cis | NA |
| Bulimia nervosa | 0.0262 | 0.0091 | 0.00404 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries | -0.0941 | 0.038 | 0.0132 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | -0.0786 | 0.0329 | 0.0171 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | -0.0121 | 0.00511 | 0.0176 | Wald ratio | 1 | cis | NA |
| Neo-openness to experience | -0.219 | 0.0948 | 0.0207 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level | 0.145 | 0.0636 | 0.0224 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | -0.0519 | 0.0234 | 0.0267 | Wald ratio | 1 | cis | NA |
| HDL cholesterol | 0.0138 | 0.00637 | 0.0307 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | 0.0492 | 0.0232 | 0.0339 | Wald ratio | 1 | cis | NA |
| …and 108 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
52 association rows across 25 traits (48 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 |
|---|---|---|---|---|---|
| Adenosine deaminase CECR1 levels | 3e-985 | rs2231495 | 5 | GCST90246979 | no MR -> candidate analysis |
| Adenosine deaminase CECR1 levels (CECR1.6077.63.3) | 1e-370 | rs2231495 | 2 | GCST90240191 | no MR -> candidate analysis |
| Blood protein levels | 9e-370 | rs2231495 | 2 | GCST006585 | no MR -> candidate analysis |
| ADA2/VCAM1 protein level ratio | 2e-286 | rs9606655 | 1 | GCST90313167 | no MR -> candidate analysis |
| IL17RA protein levels | 3e-286 | rs5748923 | 14 | GCST90469562 | no MR -> candidate analysis |
| ADA2 protein levels | 1e-265 | rs737963 | 5 | GCST90468215 | no MR -> candidate analysis |
| Protein S100-A11 levels | 9e-243 | rs2231495 | 2 | GCST90249401 | no MR -> candidate analysis |
| Interleukin-17 receptor A levels | 8e-47 | rs5992639 | 3 | GCST90248041 | no MR -> candidate analysis |
| Adenosine deaminase CECR1 level in Chronic kidney disease wi | 1e-44 | rs2231495 | 1 | GCST90238152 | no MR -> candidate analysis |
| Arylsulfatase B levels | 3e-35 | rs2231495 | 1 | GCST90246585 | no MR -> candidate analysis |
| Serum levels of protein PTHLH | 5e-27 | rs2231495 | 1 | GCST90088151 | no MR -> candidate analysis |
| Parathyroid hormone-related protein levels | 3e-25 | rs2231495 | 1 | GCST90249173 | no MR -> candidate analysis |
| …and 13 more traits (see JSON) |
Top diseases by Open Targets association (of 498 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 |
|---|---|---|---|---|
| deficiency of adenosine deaminase 2 | 0.916 | — | established (curated) | no MR -> candidate analysis |
| Sneddon syndrome | 0.84 | — | established (curated) | no MR -> candidate analysis |
| polyarteritis nodosa, childhoood-onset | 0.945 | — | established (curated) | no MR -> candidate analysis |
| Diamond-Blackfan anemia | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Blackfan-Diamond anemia | 0.608 | — | established (curated) | no MR -> candidate analysis |
| autoinflammatory syndrome | 0.83 | — | established (curated) | no MR -> candidate analysis |
| Behcet disease | 0.779 | — | established (curated) | no MR -> candidate analysis |
| Splenomegaly | 0.559 | — | established (curated) | no MR -> candidate analysis |
| immunodeficiency disease | 0.547 | — | established (curated) | no MR -> candidate analysis |
| polyarteritis nodosa | 0.438 | — | established (curated) | no MR -> candidate analysis |
| preeclampsia | 0.349 | — | common-variant locus | no MR -> candidate analysis |
| bone Paget disease | 0.319 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=7e-07, LOEUF=0.894 — LoF-tolerant |
| GWAS Catalog | 104 unique SNPs / 231 rows |
| ClinVar | 705 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 498 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘ADA2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 705 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 52 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/Q9NZK5 — 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/ENSG00000093072/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ADA2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ADA2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ADA2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ADA2 — GWAS Catalog search API (live; release not exposed)