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 |
|---|---|---|---|---|---|---|---|
| Age at menarche | -0.0635 | 0.0119 | 9.00e-08 | Wald ratio | 1 | cis | 0.858 |
| Weight | -0.0222 | 0.00423 | 1.55e-07 | Wald ratio | 1 | cis | 0.0065 |
| Body mass index (BMI) | -0.0188 | 0.00479 | 8.63e-05 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | -0.0646 | 0.0171 | 1.59e-04 | Wald ratio | 1 | cis | NA |
| Ovarian cancer | 0.0941 | 0.0266 | 3.95e-04 | Wald ratio | 1 | cis | NA |
| Serum cystatin C (eGFRcys) | -0.0138 | 0.00392 | 4.25e-04 | Wald ratio | 1 | cis | NA |
| High grade serous ovarian cancer | 0.0911 | 0.0316 | 0.00394 | Wald ratio | 1 | cis | NA |
| Small vessel disease | 0.212 | 0.0743 | 0.00435 | Wald ratio | 1 | cis | NA |
| Total cholesterol | -0.0301 | 0.0106 | 0.00473 | Wald ratio | 1 | cis | NA |
| Pulse rate | -0.0235 | 0.00845 | 0.00541 | Wald ratio | 1 | cis | NA |
| HDL cholesterol | -0.0261 | 0.0099 | 0.00825 | Wald ratio | 1 | cis | NA |
| Creatinine (enzymatic) in urine | -0.0117 | 0.00459 | 0.011 | Wald ratio | 1 | cis | NA |
| …and 84 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
228 association rows across 124 traits (210 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 DLK1 levels | 6e-1789 | rs12881760 | 5 | GCST90859946 | no MR -> candidate analysis |
| DLK1/RGMB protein level ratio | 9e-629 | rs17577580 | 1 | GCST90314493 | no MR -> candidate analysis |
| DLK1/PIK3IP1 protein level ratio | 4e-582 | rs17577580 | 1 | GCST90314492 | no MR -> candidate analysis |
| DLK1/FAP protein level ratio | 4e-576 | rs17577580 | 1 | GCST90314491 | no MR -> candidate analysis |
| Protein delta homolog 1 levels | 3e-362 | rs12881545 | 4 | GCST90248914 | no MR -> candidate analysis |
| Platelet crit (UKB data field 30090) | 2e-163 | rs1555405 | 2 | GCST90468096 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 2e-163 | rs1555405 | 1 | GCST90838671 | no MR -> candidate analysis |
| Platelet count | 4e-132 | rs10873520 | 14 | GCST90662907 | no MR -> candidate analysis |
| DLK1 protein levels | 1e-116 | rs72698724 | 9 | GCST90469003 | no MR -> candidate analysis |
| Serum levels of protein SEMG2 | 4e-115 | rs12881760 | 2 | GCST90089376 | no MR -> candidate analysis |
| platelet count (minimum, inv-norm transformed) | 1e-112 | rs12881545 | 3 | GCST90476302 | no MR -> candidate analysis |
| Serum levels of protein DLK1 | 3e-108 | rs12881760 | 2 | GCST90089461 | no MR -> candidate analysis |
| …and 112 more traits (see JSON) |
Top diseases by Open Targets association (of 640 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 |
|---|---|---|---|---|
| Abnormality of the skeletal system | 0.703 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis | 0.618 | — | common-variant locus | MR: beta=-0.0646, p=1.59e-04 (cis) |
| type 2 diabetes mellitus | 0.576 | — | common-variant locus | no MR -> candidate analysis |
| paternal uniparental disomy of chromosome 14 | 0.547 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of refraction | 0.514 | — | common-variant locus | no MR -> candidate analysis |
| central precocious puberty | 0.471 | — | established (curated) | no MR -> candidate analysis |
| clonal hematopoiesis | 0.451 | — | common-variant locus | no MR -> candidate analysis |
| myeloproliferative disorder | 0.424 | — | common-variant locus | no MR -> candidate analysis |
| Hodgkins lymphoma | 0.423 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal nasolacrimal system morphology | 0.364 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.316 | — | established (curated) | no MR -> candidate analysis |
| cleft palate | 0.3 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.224 | — | common-variant locus | no MR -> candidate analysis |
| Silver-Russell syndrome | 0.228 | — | established (curated) | no MR -> candidate analysis |
| smoking initiation | 0.23 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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 | 0 known modulators (Protein delta homolog 1) |
| gnomAD constraint | pLI=1, LOEUF=0.447 — LoF-INTOLERANT |
| GWAS Catalog | 109 unique SNPs / 238 rows |
| ClinVar | 135 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 640 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 ‘DLK1’ and resolved to ‘Protein delta homolog 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 135 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 124 traits by best p-value, aggregated from 228 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/P80370 — 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/ENSG00000185559/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5671/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/DLK1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/DLK1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DLK1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/DLK1 — GWAS Catalog search API (live; release not exposed)