Aliases: BSAP, PAX-5.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Acute Lymphoblastic Leukemia | somatic driver somatic |
mechanism: B-Lineage Developmental Program Disruption
scoped to subtype: PAX5-altered
|
| B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality | somatic driver somatic | |
| Heavy Chain Disease | disputed somatic |
scoped to subtype: Alpha-HCD
|
| Mixed Phenotype Acute Leukemia | no genetic record |
mechanism: Failure of Lineage Commitment
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| leukemia, acute lymphoblastic, susceptibility to, 3 MONDO:0014241 | AD | Definitive 2025-05-13 |
no dismech entry |
| PAX5-related B lymphopenia and autism spectrum disorder MONDO:0100299 | AR | Moderate 2023-02-28 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.