NUP54

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• dystonia 37, early-onset, with striatal lesions

  0.55

• HIV infectious disease

  0.54

• influenza

  0.54

• viral infectious disease

  0.53

• neurodegenerative disease

  0.37

• Histiocytosis

  0.37

• familial infantile bilateral striatal necrosis

  0.37

• COVID-19

  0.37

• Parkinson disease

  0.26

• pyogenic granuloma

  0.24

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

Protein function (UniProt)