AAGAB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ichthyosis and erythrokeratoderma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratoderma and erythrokeratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Palmoplantar keratodermas

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• punctate palmoplantar keratoderma type 1

  0.64

• neurodegenerative disease

  0.50

• Palmoplantar keratoderma

  0.44

• asthma

  0.39

• hereditary palmoplantar keratoderma

  0.37

• epidermolytic palmoplantar keratoderma, 1

  0.37

• Hernia of the abdominal wall

  0.36

• Neoplasm of the endocrine system

  0.34

• diverticular disease

  0.32

• smoking behavior

  0.30

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

Protein function (UniProt)