USP27X

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• Fetal anomalies

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

• Intellectual disability

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

Disease associations (Open Targets)

• X-linked non-syndromic intellectual disability

  0.67

• Intellectual disability

  0.57

• non-syndromic X-linked intellectual disability

  0.37

• neurodevelopmental disorder

  0.27

• hereditary disease

  0.19

• X-linked intellectual disability

  0.19

• cask-related x-linked intellectual disability

  0.19

• hepatocellular carcinoma

  0.10

• breast cancer

  0.08

• neoplasm

  0.07

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

Protein function (UniProt)