SSR4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

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

• Intellectual disability

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

• Likely inborn error of metabolism

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

• Undiagnosed metabolic disorders

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

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• SSR4-congenital disorder of glycosylation

  0.75

• congenital disorder of glycosylation type II

  0.53

• ALG2-congenital disorder of glycosylation

  0.37

• neurodegenerative disease

  0.32

• hereditary disease

  0.19

• esophageal squamous cell carcinoma

  0.08

• colorectal cancer

  0.08

• neoplasm

  0.07

• colon adenocarcinoma

  0.05

• renal cell carcinoma

  0.03

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

Protein function (UniProt)