ESAM

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity

  0.72

• schizophrenia

  0.51

• autism spectrum disorder

  0.37

• anorexia nervosa

  0.34

• irritable bowel syndrome

  0.32

• attention deficit-hyperactivity disorder

  0.30

• obsessive-compulsive disorder

  0.30

• bipolar disorder

  0.30

• intelligence

  0.30

• Tourette syndrome

  0.30

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

Protein function (UniProt)

Diseases associated with ESAM

Curated MONDO disease pages that list ESAM among their top associated genes.

• schizophreniaRare