Disease-gene associations mined from literature

Human genes for X-linked thrombocytopenia with beta-thalassemia

X-linked thrombocytopenia with beta-thalassemia [DOID:0111767]

A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of GATA1 on chromosome Xp11.23.

Synonyms:  X-linked thrombocytopenia with beta-thalassemia,  DOID:0111767,  Xlinked thrombocytopenia with betathalassemia,  X-linked thrombocytopenia with beta-thalassemias,  GATA1-related X-linked cytopenia ...