Previous symbols: GF1. Aliases: ERYF1, NFE1, GATA-1, NF-E1.
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 |
|---|---|---|
| Acute Erythroid Leukemia | cooperating somatic |
mechanism: Erythroid Maturation Arrest at the Proerythroblast Stage
|
| Acute Megakaryoblastic Leukemia | somatic driversusceptibility germlinesomatic |
mechanism: GATA1s-Driven Transient Abnormal Myelopoiesis; Non-DS GATA1 Mutation Cooperates with Chromosome 21 Gain; Trisomy 21 and GATA1 Truncation Generate GATA1s
|
| Diamond-Blackfan Anemia | causative |
mechanism: GATA1 Translational Insufficiency
|
| Inherited Porphyria | causative |
subtype: Congenital Erythropoietic Porphyria
scoped to subtype: Congenital Erythropoietic Porphyria
|
| Congenital Dyserythropoietic Anemia |
untyped
Causal
|
subtype: CDA transcription-factor-related
scoped to subtype: CDA transcription-factor-related
|
| Down_syndrome |
untyped
Somatic preleukemic mutation
|
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 |
|---|---|---|---|
| GATA1-Related X-Linked Cytopenia MONDO:0100089 | XL | Definitive 2020-05-27 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.