AAAS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Congenital adrenal hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial dysautonomia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• triple-A syndrome

  0.80

• Triple A syndrome

  0.77

• influenza

  0.54

• HIV infectious disease

  0.54

• viral infectious disease

  0.53

• hereditary disease

  0.49

• achalasia-alacrima syndrome

  0.42

• COVID-19

  0.37

• Histiocytosis

  0.37

• Spastic paraparesis

  0.34

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

Protein function (UniProt)