STX3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  Unknown

Disease associations (Open Targets)

• retinal dystrophy and microvillus inclusion disease

  0.63

• diarrhea 12, with microvillus atrophy

  0.52

• microvillus inclusion disease

  0.39

• Genu valgum

  0.29

• Genu varum

  0.29

• hereditary disease

  0.19

• adrenal gland hyperfunction

  0.17

• Tietze syndrome

  0.14

• esophageal squamous cell carcinoma

  0.08

• neoplasm

  0.06

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

Protein function (UniProt)