Protein Dossier — CDNF (Cerebral dopamine neurotrophic factor)
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 |
| Eczema |
-0.303 |
0.111 |
0.00641 |
Wald ratio |
1 |
cis |
NA |
| Clear cell ovarian cancer |
-0.492 |
0.204 |
0.016 |
Wald ratio |
1 |
cis |
NA |
| Neuroticism |
-0.0381 |
0.0159 |
0.0164 |
Wald ratio |
1 |
cis |
NA |
| Invasive mucinous ovarian cancer |
-0.488 |
0.205 |
0.0173 |
Wald ratio |
1 |
cis |
NA |
| Depressive symptoms |
-0.0413 |
0.0191 |
0.0303 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
-0.193 |
0.103 |
0.0604 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.226 |
0.122 |
0.0638 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.2 |
0.112 |
0.0749 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vitiligo |
0.7 |
0.394 |
0.0755 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
0.145 |
0.0822 |
0.0785 |
Wald ratio |
1 |
cis |
NA |
| Endometrioid ovarian cancer |
-0.269 |
0.153 |
0.0786 |
Wald ratio |
1 |
cis |
NA |
| Myocardial infarction |
-0.122 |
0.0709 |
0.0847 |
Wald ratio |
1 |
cis |
NA |
| …and 56 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4962_52_1 |
ARMEL |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
17 association rows across 11 traits (15 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 |
| Cerebral dopamine neurotrophic factor levels |
3e-219 |
rs61738953 |
5 |
GCST90246967 |
no MR -> candidate analysis |
| Circulating CDNF levels |
1e-210 |
rs55884544 |
3 |
GCST90860549 |
no MR -> candidate analysis |
| Cyclic AMP-dependent transcription factor ATF-6 alpha levels |
2e-97 |
rs61738953 |
1 |
GCST90246610 |
no MR -> candidate analysis |
| Serum levels of protein CDNF |
9e-38 |
rs61738953 |
1 |
GCST90088828 |
no MR -> candidate analysis |
| Cyclic AMP-dependent transcription factor ATF-6 alpha levels |
5e-29 |
rs61738953 |
1 |
GCST90240816 |
no MR -> candidate analysis |
| Serum levels of protein ATF6 |
4e-24 |
rs61738953 |
1 |
GCST90086655 |
no MR -> candidate analysis |
| Cerebral dopamine neurotrophic factor levels (CDNF.4962.52.1 |
3e-20 |
rs61738953 |
1 |
GCST90240675 |
no MR -> candidate analysis |
| Total PHF-tau (SNP x SNP interaction) |
1e-13 |
rs2163935 x rs7091494 |
1 |
GCST010340 |
no MR -> candidate analysis |
| Peyronie’s disease (PheCode 604.3) |
2e-11 |
rs1051993455 |
1 |
GCST90480417 |
no MR -> candidate analysis |
| Ovarian dysfunction in childhood cancer survivors |
8e-7 |
rs116926206 |
1 |
GCST90838701 |
no MR -> candidate analysis |
| Parental extreme longevity (95 years and older) |
6e-6 |
rs149930776 |
1 |
GCST003395 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 491 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 |
| Peyronie disease |
0.416 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 1 rows above, 1 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.012, LOEUF=1.06 — LoF-tolerant |
| GWAS Catalog |
24 unique SNPs / 48 rows |
| ClinVar |
29 records; 17 pathogenic in sample of 29 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 491 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 ‘CDNF’.clinvar — Pathogenic count is over the 29 record(s) retrieved, NOT over all 29 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 11 of 11 traits by best p-value, aggregated from 17 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/Q49AH0 — 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/ENSG00000185267/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CDNF — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CDNF — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CDNF%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CDNF — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:45:40 · 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