STAT5B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic short stature

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• growth hormone insensitivity with immune dysregulation 1, autosomal recessive

  0.81

• growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

  0.71

• cancer

  0.61

• severe combined immunodeficiency

  0.47

• combined immunodeficiency

  0.46

• T-B- severe combined immunodeficiency

  0.46

• T-B+ severe combined immunodeficiency

  0.46

• acute myeloid leukemia

  0.45

• asthma

  0.39

• Chronic Eosinophilic Leukemia, Not Otherwise Specified

  0.38

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

Protein function (UniProt)