ECE1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Familial Hirschsprung Disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric pseudo-obstruction syndrome

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Hirschsprung disease

  0.59

• neurodegenerative disease

  0.35

• Alzheimer disease

  0.33

• liver disorder

  0.33

• Parkinson disease

  0.33

• multiple sclerosis

  0.33

• lysosomal storage disease

  0.33

• Aganglionic megacolon

  0.32

• stomach disorder

  0.29

• dementia

  0.26

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

Protein function (UniProt)