Protein Dossier — DLL1 (Delta-like protein 1)
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 |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.891 |
0.232 |
1.22e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
0.449 |
0.119 |
1.60e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
0.0389 |
0.011 |
4.11e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0333 |
0.0104 |
0.00144 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
-0.0403 |
0.013 |
0.00202 |
Wald ratio |
1 |
cis |
NA |
| Squamous cell lung cancer |
-0.404 |
0.139 |
0.00363 |
Wald ratio |
1 |
cis |
NA |
| Putamen volume |
91.6 |
31.8 |
0.00403 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
-0.0997 |
0.044 |
0.0235 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: B37 Candidiasis |
0.739 |
0.328 |
0.0243 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: arthritis (nos) |
0.246 |
0.117 |
0.0347 |
Wald ratio |
1 |
cis |
NA |
| Lung cancer |
-0.187 |
0.0944 |
0.0472 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting |
0.302 |
0.154 |
0.0507 |
Wald ratio |
1 |
cis |
NA |
| …and 64 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5349_69_3 |
DLL1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
20 association rows across 16 traits (19 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 |
| DLL1/TGFBR2 protein level ratio |
4e-113 |
rs1028489 |
1 |
GCST90314499 |
no MR -> candidate analysis |
| DLL1/IL18BP protein level ratio |
1e-104 |
rs1028489 |
1 |
GCST90314495 |
no MR -> candidate analysis |
| DLL1/NBL1 protein level ratio |
1e-91 |
rs1028489 |
1 |
GCST90314496 |
no MR -> candidate analysis |
| DLL1/NECTIN4 protein level ratio |
4e-89 |
rs1028489 |
1 |
GCST90314497 |
no MR -> candidate analysis |
| DLL1/NOTCH1 protein level ratio |
1e-76 |
rs1028489 |
1 |
GCST90314498 |
no MR -> candidate analysis |
| DLL1 protein levels |
9e-33 |
rs2747757 |
2 |
GCST90469004 |
no MR -> candidate analysis |
| systolic blood pressure (SBP, mean, inv-normal transformed) |
2e-17 |
rs9356632 |
2 |
GCST90476403 |
no MR -> candidate analysis |
| Systolic blood pressure |
7e-14 |
rs9356632 |
2 |
GCST007267 |
MR: beta=-0.0403, p=0.00202 (cis) |
| Acute laryngitis and tracheitis (PheCode 465.4) |
7e-13 |
rs138404838 |
1 |
GCST90480232 |
no MR -> candidate analysis |
| Height |
8e-11 |
rs1028488 |
1 |
GCST90245848 |
no MR -> candidate analysis |
| General risk tolerance (MTAG) |
1e-10 |
rs62425620 |
1 |
GCST007325 |
no MR -> candidate analysis |
| Diastolic blood pressure |
2e-9 |
rs1033583 |
2 |
GCST90662909 |
MR: beta=-0.0147, p=0.259 (cis) |
| …and 4 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1110 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 |
| neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures |
0.846 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.837 |
— |
established (curated) |
no MR -> candidate analysis |
| alobar holoprosencephaly |
0.523 |
— |
established (curated) |
no MR -> candidate analysis |
| midline interhemispheric variant of holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| semilobar holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| lobar holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| septopreoptic holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| autosomal dominant non-syndromic intellectual disability |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| microform holoprosencephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| Neurodevelopmental delay |
0.559 |
— |
established (curated) |
no MR -> candidate analysis |
| respiratory tract infectious disorder |
0.543 |
— |
common-variant locus |
no MR -> candidate analysis |
| hemiplegia |
0.398 |
— |
common-variant locus |
no MR -> candidate analysis |
| risk-taking behaviour |
0.343 |
— |
common-variant locus |
no MR -> candidate analysis |
| essential hypertension |
0.308 |
— |
common-variant locus |
no MR -> candidate analysis |
| hypertensive disorder |
0.278 |
— |
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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=1, LOEUF=0.209 — LoF-INTOLERANT |
| GWAS Catalog |
60 unique SNPs / 117 rows |
| ClinVar |
807 records; 8 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1110 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 ‘DLL1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 807 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 16 of 16 traits by best p-value, aggregated from 20 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/O00548 — 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/ENSG00000198719/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/DLL1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/DLL1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DLL1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/DLL1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:18:25 · 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