Aliases: TFEA, bHLHe33.
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 |
|---|---|---|
| Alveolar Soft Part Sarcoma | somatic driver somatic |
mechanism: ASPSCR1-TFE3 Fusion Oncogene
animal model: Mus musculus
|
| Epithelioid Hemangioendothelioma |
untyped
Somatic gene fusion partner (3-prime partner of YAP1-TFE3)
|
mechanism: YAP1-TFE3 Fusion Oncogene Formation
scoped to subtype: YAP1-TFE3
|
| Perivascular Epithelioid Cell Neoplasm |
untyped
MiT/TFE Family Gene Fusion
somatic
|
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 |
|---|---|---|---|
| X-linked syndromic complex neurodevelopmental disorder MONDO:1040018 | XL | Definitive 2024-03-19 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.