SLC35A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• SLC35A1-congenital disorder of glycosylation

  0.79

• congenital disorder of glycosylation

  0.37

• congenital disorder of glycosylation type II

  0.37

• SRD5A3-congenital disorder of glycosylation

  0.37

• atrial fibrillation

  0.35

• hereditary disease

  0.19

• Macrothrombocytopenia

  0.19

• Seizure

  0.19

• hemorrhage

  0.18

• hypothyroidism

  0.07

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

Protein function (UniProt)