CRYBA4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• cataract

  0.68

• early-onset non-syndromic cataract

  0.63

• early-onset zonular cataract

  0.42

• Cataract-microcornea syndrome

  0.37

• cataract - microcornea syndrome

  0.37

• alcohol drinking

  0.20

• hereditary disease

  0.19

• adverse effect

  0.13

• bacterial arthritis

  0.13

• Abnormal nasolacrimal system morphology

  0.12

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

Protein function (UniProt)

Diseases associated with CRYBA4

Curated MONDO disease pages that list CRYBA4 among their top associated genes.

• cataractRare
• early-onset zonular cataractRare