Aliases: E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47, p75.
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 |
|---|---|---|
| Autosomal Agammaglobulinemia | causative germline |
mechanism: Defective TCF3 Transcription-Factor Activity
subtype: AGM8; AGM8B
scoped to subtype: AGM8
|
| Burkitt Lymphoma | cooperating |
mechanism: Uncontrolled B-Cell Proliferation
|
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 |
|---|---|---|---|
| autosomal agammaglobulinemia MONDO:0011096 | SD | Definitive 2023-01-07 |
Autosomal Agammaglobulinemia
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.