Gene-Disease Evidence Index

120-association public preview gene page

PSEN2

presenilin 2

Research use only. This page reports source-attributed evidence observed in the included release data. A gene symbol may appear in more than one rendered disease release. This is not medical advice, diagnosis, treatment guidance, patient risk prediction, clinical decision support, or clinical certainty. It covers only associations included in this release's fixed 120-association preview scope; absence from this page is not evidence of absence.
HGNC:9509 primary gene id
2 associations
3 evidence rows
2 releases

Release Packages

Methods and glossary
alzheimer-top120-v0.1.0-preview

release directory Git tag Data dictionary integrity.json ZIP archive

dilated-cardiomyopathy-top120-v0.1.0-preview

release directory Git tag Data dictionary integrity.json ZIP archive

Identity

genes.json
Symbol
PSEN2
Name
presenilin 2
Aliases
AD3L, AD4, E5-1, PS-2, PS2, STM2
Provenance
ClinVar, HGNC, Open Targets Platform

Alzheimer disease

assoc:9509:0004975:db2eba4d4790 · dilated-cardiomyopathy-top120-v0.1.0-preview

association row
Status
observed unreviewed
Support tier
multi source observed
Review
automatic checks only
Max source-reported score
0.817

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, 6 records. Snapshot freshness: refresh recommended; assessed Jun 9, 2026; next review Jul 9, 2026; gene_condition_source_id-2026-06-14-paper120, 0 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. 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:5664:PSEN2:C0002395:MONDO:0004975 clinical variant context ClinVar gene_condition_source_id reports PSEN2 in relation to Alzheimer disease (MONDO:0004975) via MONDO. not scored
Open Targets Platform OT:ENSG00000143801:MONDO_0004975 target disease association Open Targets reports PSEN2 as associated with Alzheimer disease. 0.817

Open Targets score breakdown

Source-attributed signals reported by Open Targets for OT:ENSG00000143801:MONDO_0004975. 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.

By datatype
  • genetic_association 0.909
  • genetic_literature 0.772
  • literature 0.693
  • clinical 0.622
By datasource
  • uniprot_variants 0.947
  • eva 0.891
  • genomics_england 0.813
  • europepmc 0.693
  • clinical_precedence 0.622
  • orphanet 0.608
  • uniprot_literature 0.608

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.

Dilated cardiomyopathy

assoc:9509:0005021:a438be6eb2d0 · dilated-cardiomyopathy-top120-v0.1.0-preview

association row
Status
observed unreviewed
Support tier
single source observed
Review
automatic checks only
Max source-reported score
0.523

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:ENSG00000143801:EFO_0000407 target disease association Open Targets reports PSEN2 as associated with dilated cardiomyopathy. 0.523

Open Targets score breakdown

Source-attributed signals reported by Open Targets for OT:ENSG00000143801:EFO_0000407. 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.

By datatype
  • genetic_association 0.584
  • genetic_literature 0.481
  • literature 0.077
By datasource
  • orphanet 0.608
  • uniprot_literature 0.608
  • uniprot_variants 0.608
  • eva 0.316
  • genomics_england 0.304
  • europepmc 0.077
  • gene2phenotype 0.008
  • clingen 0.006

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.