CCBE1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Primary lymphoedema

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Hennekam syndrome

  0.81

• Abnormality of the skeletal system

  0.48

• hypothyroidism

  0.40

• alcohol drinking

  0.37

• hydrops fetalis

  0.37

• corneal ulcer

  0.31

• open-angle glaucoma

  0.31

• multinodular goiter

  0.28

• bone remodeling disease

  0.28

• subacute thyroiditis

  0.28

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

Protein function (UniProt)