Aliases: PR65A, PP2A-Aalpha, PP2AA.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| Endometriosis | somatic driver somatic | |
| Houge-Janssens Syndrome | causative de novo |
mechanism: PP2A Scaffolding A-alpha Subunit Variants
subtype: Houge-Janssens syndrome type 2 (PPP2R1A)
animal model: Mouse
scoped to subtype: Houge-Janssens syndrome type 2 (PPP2R1A)
|
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 |
|---|---|---|---|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2022-11-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.