120-association public preview gene page

PAX4

paired box 4

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:8618 primary gene id

1 associations

2 evidence rows

1 releases

Release Packages

Methods and glossary

type2-diabetes-top120-v0.1.0-preview

release directory Git tag Data dictionary integrity.json ZIP archive

Identity

genes.json

Symbol: PAX4
Name: paired box 4
Aliases: MODY9
Provenance: ClinVar, HGNC, Open Targets Platform

Type 2 diabetes mellitus

assoc:8618:0005148:9a77015e2909 · type2-diabetes-top120-v0.1.0-preview

association row

Status: observed unreviewed
Support tier: multi source observed
Review: automatic checks only
Max source-reported score: 0.676

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
Open Targets Platform OT:ENSG00000106331:MONDO_0005148	target disease association	Open Targets reports PAX4 as associated with type 2 diabetes mellitus.	0.676
ClinVar ClinVarGeneCondition:5078:PAX4:C0011860:MONDO:0005148	clinical variant context	ClinVar gene_condition_source_id reports PAX4 in relation to Type 2 diabetes mellitus (MONDO:0005148) via MONDO.	not scored

Open Targets score breakdown

Source-attributed signals reported by Open Targets for OT:ENSG00000106331: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.

By datatype

genetic_association 0.801
literature 0.383
genetic_literature 0.304

By datasource

gwas_credible_sets 0.891
eva 0.664
europepmc 0.383
uniprot_variants 0.304
uniprot_literature 0.304

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.