CIZ1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Adult onset dystonia, chorea or related movement disorder

• Adult onset neurodegenerative disorder

  Unknown

• Childhood onset dystonia, chorea or related movement disorder

  Unknown

• Early onset dystonia

Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 31A

  0.51

• Lennox-Gastaut syndrome

  0.51

• hereditary disease

  0.45

• developmental and epileptic encephalopathy, 31B

  0.33

• dystonia 23

  0.29

• stereotypic movement disorder

  0.27

• cerebellar ataxia

  0.27

• Epileptic encephalopathy

  0.27

• Hypotonia

  0.27

• Global developmental delay

  0.27

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

Protein function (UniProt)