MYO5B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• microvillus inclusion disease

  0.85

• progressive familial intrahepatic cholestasis

  0.76

• neurodegenerative disease

  0.46

• progressive familial intrahepatic cholestasis type 1

  0.38

• inflammatory bowel disease 1

  0.33

• ocular hypotension

  0.28

• ovarian neoplasm

  0.28

• refractive error

  0.26

• liver disorder

  0.25

• hyperpituitarism

  0.24

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

Protein function (UniProt)