SLC35C1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• leukocyte adhesion deficiency type II

  0.81

• leukocyte adhesion deficiency

  0.46

• neurodegenerative disease

  0.46

• Alzheimer disease

  0.38

• congenital disorder of glycosylation

  0.37

• congenital disorder of glycosylation type II

  0.37

• lysosomal storage disease

  0.37

• Parkinson disease

  0.37

• multiple sclerosis

  0.37

• major depressive disorder

  0.32

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

Protein function (UniProt)