SEC63

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cystic kidney disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ductal plate malformation

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Polycystic liver disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Rare multisystem ciliopathy disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Renal ciliopathies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Isolated polycystic liver disease

  0.79

• autosomal dominant polycystic liver disease

  0.55

• neurodegenerative disease

  0.53

• polycystic liver disease 1

  0.43

• Biliary tract abnormality

  0.35

• placental abruption

  0.26

• muscle cramp

  0.24

• abscess

  0.23

• cellulitis

  0.23

• connective tissue disorder

  0.22

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

Protein function (UniProt)