EPB42

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hereditary spherocytosis

  0.73

• hereditary elliptocytosis

  0.48

• recessive spherocytosis

  0.46

• placental abruption

  0.34

• hereditary disease

  0.19

• Alzheimer disease

  0.16

• Congenital dyserythropoietic anemia type I

  0.06

• dehydrated hereditary stomatocytosis

  0.06

• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

  0.06

• Hemolytic anemia due to red cell pyruvate kinase deficiency

  0.06

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

Protein function (UniProt)