CDAN1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Iron metabolism disorders - NOT common HFE mutations

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Congenital dyserythropoietic anemia type I

  0.82

• congenital dyserythropoietic anemia type 1

  0.65

• aortic valve disorder

  0.27

• aortic stenosis

  0.22

• hereditary disease

  0.19

• heart valve disorder

  0.15

• autosomal dominant macrothrombocytopenia

  0.06

• amegakaryocytic thrombocytopenia, congenital, 2

  0.05

• hereditary thrombocytopenia with normal platelets

  0.04

• Thrombocytopenia

  0.04

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

Protein function (UniProt)