WBP11

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric disorders - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• VACTERL-like phenotypes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• vertebral, cardiac, tracheoesophageal, renal, and limb defects

  0.75

• hereditary disease

  0.50

• dengue disease

  0.37

• prostate carcinoma

  0.07

• autosomal recessive spondylocostal dysostosis

  0.07

• Jeune syndrome

  0.06

• Short rib-polydactyly syndrome, Verma-Naumoff type

  0.06

• 3M syndrome

  0.06

• achondrogenesis

  0.06

• autosomal dominant spondylocostal dysostosis

  0.06

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

Protein function (UniProt)