SH2B3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Thrombocythaemia

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies for rare disease

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary Erythrocytosis

  Other

• Childhood solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• celiac disease

  0.64

• type 1 diabetes mellitus

  0.62

• hypertensive disorder

  0.60

• coronary artery disorder

  0.60

• hypothyroidism

  0.58

• myocardial infarction

  0.57

• ischemic stroke

  0.57

• Abnormality of the skeletal system

  0.56

• myeloproliferative disorder

  0.56

• rheumatoid arthritis

  0.56

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

Protein function (UniProt)

Diseases associated with SH2B3

Curated MONDO disease pages that list SH2B3 among their top associated genes.

• hypothyroidismRare
• type 1 diabetes mellitusRare
• coronary atherosclerosisRare
• ischemic strokeRare
• autoimmune diseaseRare
• thyroid gland disorderRare