SASH3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Primary immunodeficiency or monogenic inflammatory bowel disease

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• immunodeficiency 102

  0.70

• combined immunodeficiency, X-linked

  0.37

• Immunodeficiency

  0.12

• cancer

  0.08

• neoplasm

  0.04

• acute myeloid leukemia

  0.04

• esophageal squamous cell carcinoma

  0.04

• hyperinsulinemic hypoglycemia, familial, 4

  0.03

• infection

  0.02

• lung carcinoma

  0.01

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

Protein function (UniProt)