GATA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Haematological malignancies cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Haematological malignancies for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• monocytopenia with susceptibility to infections

  0.82

• Deafness - lymphedema - leukemia

  0.81

• myelodysplastic syndrome

  0.77

• deafness-lymphedema-leukemia syndrome

  0.75

• acute myeloid leukemia

  0.75

• GATA2 deficiency with susceptibility to MDS/AML

  0.65

• leukemia, acute myeloid, susceptibility to

  0.62

• neurodegenerative disease

  0.53

• prostate carcinoma

  0.53

• hereditary disease

  0.53

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with GATA2

Curated MONDO disease pages that list GATA2 among their top associated genes.

• acute myeloid leukemiaRare
• myelodysplastic syndromeRare