ARR3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Structural eye disease

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• myopia 26, X-linked, female-limited

  0.67

• Rare isolated myopia

  0.38

• hereditary disease

  0.19

• refractive error

  0.19

• myopia

  0.10

• respiratory depression

  0.05

• Respiratory insufficiency due to muscle weakness

  0.05

• neoplasm

  0.04

• acute myeloid leukemia

  0.03

• in situ carcinoma

  0.02

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

Protein function (UniProt)