ZFHX4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Congenital fibrosis of the extraocular muscles

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• neurodevelopmental disorder

  0.55

• basal cell carcinoma

  0.46

• skin neoplasm

  0.44

• skin cancer

  0.44

• cancer

  0.42

• non-melanoma skin carcinoma

  0.40

• androgenetic alopecia

  0.38

• insomnia

  0.37

• syndromic complex neurodevelopmental disorder

  0.37

• alcohol drinking

  0.35

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

Protein function (UniProt)