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 |
|---|---|---|---|---|---|---|---|
| Total cholesterol | 0.114 | 0.04 | 0.00437 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting | 0.506 | 0.189 | 0.00747 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | 0.173 | 0.0738 | 0.0188 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.504 | 0.239 | 0.0352 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | 0.0402 | 0.0193 | 0.0376 | Wald ratio | 1 | cis | NA |
| Fracture resulting from simple fall | -0.114 | 0.0554 | 0.0389 | Wald ratio | 1 | cis | NA |
| Coronary heart disease | 0.127 | 0.0654 | 0.0516 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0469 | 0.0243 | 0.0542 | Wald ratio | 1 | cis | NA |
| Glioma | 0.639 | 0.341 | 0.0614 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | 0.0746 | 0.0406 | 0.0661 | Wald ratio | 1 | cis | NA |
| Neo-neuroticism | 1.34 | 0.74 | 0.0693 | Wald ratio | 1 | cis | NA |
| Major depressive disorder | 0.296 | 0.166 | 0.0754 | Wald ratio | 1 | cis | NA |
| …and 77 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
10 association rows across 9 traits (9 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 |
|---|---|---|---|---|---|
| Ceroid-lipofuscinosis neuronal protein 5 levels | 2e-63 | rs1773045 | 1 | GCST90247065 | no MR -> candidate analysis |
| Ceroid-lipofuscinosis neuronal protein 5:Lumenal domain leve | 3e-40 | rs700363 | 1 | GCST90427516 | no MR -> candidate analysis |
| Morning person | 5e-36 | rs9573980 | 2 | GCST007565 | no MR -> candidate analysis |
| Chronotype | 5e-36 | rs9573980 | 1 | GCST007576 | no MR -> candidate analysis |
| Morningness | 1e-28 | rs9565309 | 1 | GCST007983 | no MR -> candidate analysis |
| Ease of getting up in the morning | 5e-11 | rs7332608 | 1 | GCST007986 | no MR -> candidate analysis |
| Blood protein levels | 1e-10 | rs7996555 | 1 | GCST006585 | no MR -> candidate analysis |
| Morning vs. evening chronotype | 4e-8 | rs9565309 | 1 | GCST003429 | no MR -> candidate analysis |
| 5alpha-pregnan-3beta,20alpha-diol monosulfate (2) levels in | 6e-6 | rs1579 | 1 | GCST90133850 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 511 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 |
|---|---|---|---|---|
| CLN5 disease | 0.951 | — | established (curated) | no MR -> candidate analysis |
| neuronal ceroid lipofuscinosis 5 | 0.943 | — | established (curated) | no MR -> candidate analysis |
| neuronal ceroid lipofuscinosis | 0.944 | — | established (curated) | no MR -> candidate analysis |
| intellectual disability, short stature, facial anomalies, and joint dislocations | 0.792 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.773 | — | established (curated) | no MR -> candidate analysis |
| juvenile neuronal ceroid lipofuscinosis 5 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| late infantile neuronal ceroid lipofuscinosis 5 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| adult neuronal ceroid lipofuscinosis 5 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Retinal dystrophy | 0.559 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of metabolism/homeostasis | 0.559 | — | established (curated) | no MR -> candidate analysis |
| pontocerebellar hypoplasia type 2D | 0.438 | — | established (curated) | no MR -> candidate analysis |
| Hirsutism | 0.081 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.061 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.061 | — | common-variant locus | no MR -> candidate analysis |
| celiac disease | 0.058 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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=2e-11, LOEUF=1.23 — LoF-tolerant |
| GWAS Catalog | 19 unique SNPs / 38 rows |
| ClinVar | 866 records; 16 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 511 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 ‘CLN5’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 866 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 9 of 9 traits by best p-value, aggregated from 10 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/O75503 — 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/ENSG00000102805/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CLN5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CLN5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CLN5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CLN5 — GWAS Catalog search API (live; release not exposed)