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GATA1

GATA binding protein 1

HCNC Approved Symbol
GATA1 (HGNC:4170)
Genomic Coordinates
23:48,786,590 - 48,794,311 (Xp11.23)
Synonyms
ERYF1, NFE1, GATA-1, NF-E1, GF1
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
300835X-linked recessive
Hemolytic anemia due to elevated adenosine deaminase
301083X-linked recessive
Leukemia, megakaryoblastic, with or without Down syndrome, somatic
159595-
Thrombocytopenia with beta-thalassemia, X-linked
314050X-linked recessive
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
300367X-linked recessive

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the GATA1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results