120-association public preview gene page
HNF1B
HNF1 homeobox B
Release Packages
Methods and glossaryrelease directory Git tag Data dictionary integrity.json ZIP archive
Identity
genes.json- Symbol
- HNF1B
- Name
- HNF1 homeobox B
- Aliases
- HNF1beta, HNF1β, LFB3, MODY5, TCF2, VHNF1
- Provenance
- ClinVar, HGNC, Open Targets Platform
Type 2 diabetes mellitus
assoc:11630:0005148:dfad6471780c · type2-diabetes-top120-v0.1.0-preview
- Status
- observed unreviewed
- Support tier
- multi source observed
- Review
- automatic checks only
- Max source-reported score
- 0.785
Source Coverage
Supporting sources: ClinVar, Open Targets Platform
Multiple supporting sources are present in release evidence coverage.
- ClinVar: Variant/condition source context; not diagnostic advice, treatment guidance, or clinical decision support. NCBI public data; reuse subject to NCBI policies; citation. Source freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026. Snapshot freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026; gene_condition_source_id-2026-06-14-paper120, 21 records.
- Open Targets Platform: Source-attributed evidence signal; scores are not clinical truth or a combined confidence score. CC0 1.0; citation. Source freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026. Snapshot freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026; api-v4-graphql-2026-06-14-paper120, 120 records.
Evidence Rows evidence_rows.jsonl
| Source | Type | Statement | Open Targets score |
|---|---|---|---|
| ClinVar ClinVarGeneCondition:6928:HNF1B:C0011860:MONDO:0005148 | clinical variant context | ClinVar gene_condition_source_id reports HNF1B in relation to Type 2 diabetes mellitus (MONDO:0005148) via MONDO. | not scored |
| Open Targets Platform OT:ENSG00000275410:MONDO_0005148 | target disease association | Open Targets reports HNF1B as associated with type 2 diabetes mellitus. | 0.785 |
Open Targets score breakdown
Source-attributed signals reported by Open Targets for OT:ENSG00000275410:MONDO_0005148. Each value is Open Targets' own
per-datatype or per-datasource score — not truth, clinical validity, or
a combined confidence score. Labels such as clinical and clinical_precedence are Open Targets' own datatype and
datasource names, not a clinical-use or clinical-validity signal for this
association. The overall score is Open Targets' own aggregate over these
datasources; because those datasources can overlap with evidence from
other sources, the overall score is not an independent line of
corroboration.
-
genetic_association0.850 -
genetic_literature0.807 -
literature0.608
-
genomics_england0.932 -
eva0.904 -
gwas_credible_sets0.881 -
europepmc0.608 -
uniprot_variants0.304 -
uniprot_literature0.304
Caveats
- Public-candidate draft; research-use only and not a clinical finding.
- AI/referee review artifacts are advisory and do not replace human scientific review.
- ClinVar gene-condition context has not passed human scientific review.
- ClinVar gene-condition context is provenance only; not diagnostic, treatment, or clinical decision-making guidance.
- Open Targets scores are source-attributed evidence signals, not truth or clinical validity scores.
- Open Targets target-disease association context is not diagnostic, treatment, or clinical decision-making guidance.
Source names identify provenance only and do not imply endorsement by HGNC, MONDO, Open Targets, ClinVar, NCBI, or any upstream source.