Previous symbols: POLR2. Aliases: POLRA, RPB1.
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 |
|---|---|---|
| Meningioma |
untyped
Recurrent somatic mutation defining a distinct non-NF2 subset
|
mechanism: Non-NF2 Driver Mutation Subgroups
|
| Amatoxin Poisoning | no genetic record |
mechanism: RNA Polymerase II Inhibition
|
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 |
|---|---|---|---|
| neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:0032829 | AD | Definitive 2024-03-15 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.