ZDHHC9

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• syndromic X-linked intellectual disability Raymond type

  0.78

• X-linked intellectual disability with marfanoid habitus

  0.60

• hereditary disease

  0.50

• Intellectual disability

  0.46

• epilepsy

  0.37

• COVID-19

  0.37

• neurodegenerative disease

  0.23

• neurodevelopmental disorder

  0.12

• Neurodevelopmental abnormality

  0.11

• neoplasm

  0.11

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

Protein function (UniProt)