Aliases: MOP2, PASD2, HIF2A, HLF, bHLHe73.
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 |
|---|---|---|
| Familial Erythrocytosis 4 | causative germline gain of function |
mechanism: Germline EPAS1/HIF-2-alpha Gain-of-Function Variant
|
| Pacak-Zhuang syndrome |
untyped
Early postzygotic somatic mosaic gain-of-function mutation
somatic
|
mechanism: Somatic mosaic EPAS1 activation
|
| Pheochromocytoma and Paraganglioma |
untyped
Gain-of-Function Variants, Frequently Postzygotic Mosaic
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.