120-association public preview gene page
TARDBP
TAR DNA binding protein
Release Packages
Methods and glossaryrelease directory Git tag Data dictionary integrity.json ZIP archive
release directory Git tag Data dictionary integrity.json ZIP archive
Identity
genes.json- Symbol
- TARDBP
- Name
- TAR DNA binding protein
- Aliases
- ALS10, TDP-43
- Provenance
- ClinVar, HGNC, Open Targets Platform
Amyotrophic lateral sclerosis
assoc:11571:0004976:167fe676ecb6 · huntington-disease-top120-v0.1.0-preview
- Status
- observed unreviewed
- Support tier
- multi source observed
- Review
- automatic checks only
- Max source-reported score
- 0.855
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, 17 records. Snapshot freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026; gene_condition_source_id-2026-06-14-paper120, 1 record.
- 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. 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:23435:TARDBP:C0002736:MONDO:0004976 | clinical variant context | ClinVar gene_condition_source_id reports TARDBP in relation to Amyotrophic lateral sclerosis (MONDO:0004976) via MONDO. | not scored |
| Open Targets Platform OT:ENSG00000120948:MONDO_0004976 | target disease association | Open Targets reports TARDBP as associated with amyotrophic lateral sclerosis. | 0.855 |
Open Targets score breakdown
Source-attributed signals reported by Open Targets for OT:ENSG00000120948:MONDO_0004976. 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.
-
literature0.996 -
genetic_association0.941 -
genetic_literature0.843 -
animal_model0.604
-
europepmc0.996 -
uniprot_variants0.977 -
eva0.942 -
genomics_england0.890 -
clingen0.760 -
uniprot_literature0.608 -
orphanet0.608 -
impc0.604
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.
Huntington disease
assoc:11571:0007739:a3bb3dd57d22 · huntington-disease-top120-v0.1.0-preview
- Status
- observed unreviewed
- Support tier
- single source observed
- Review
- automatic checks only
- Max source-reported score
- 0.108
Source Coverage
Supporting sources: Open Targets Platform
Silent sources: ClinVar
Single supporting source with queried-but-silent release source context.
- 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. 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 |
|---|---|---|---|
| Open Targets Platform OT:ENSG00000120948:MONDO_0007739 | target disease association | Open Targets reports TARDBP as associated with Huntington disease. | 0.108 |
Open Targets score breakdown
Source-attributed signals reported by Open Targets for OT:ENSG00000120948:MONDO_0007739. 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.
-
literature0.817 -
animal_model0.276
-
europepmc0.817 -
impc0.276
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.
- 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.
- Single-source Open Targets evidence has not passed review gates.
Source names identify provenance only and do not imply endorsement by HGNC, MONDO, Open Targets, ClinVar, NCBI, or any upstream source.