PRKCSH

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

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare multisystem ciliopathy disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• polycystic liver disease 1

  0.77

• Isolated polycystic liver disease

  0.70

• primary ciliary dyskinesia

  0.56

• liver disorder

  0.54

• autosomal dominant polycystic liver disease

  0.52

• hereditary disease

  0.45

• digestive system disorder

  0.43

• Genetic visceral malformation of the liver, biliary tract, pancreas or spleen

  0.40

• COVID-19

  0.37

• severe acute respiratory syndrome

  0.37

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

Protein function (UniProt)

Diseases associated with PRKCSH

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

• liver disorderRare