SLC35D1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• schneckenbecken dysplasia

  0.79

• neurodegenerative disease

  0.39

• benign neoplasm of adrenal gland

  0.27

• hereditary disease

  0.19

• connective tissue disorder

  0.17

• Eczematoid dermatitis

  0.16

• ventricular septal defect

  0.15

• autosomal recessive limb-girdle muscular dystrophy type 2H

  0.12

• benign colon neoplasm

  0.11

• nephrotic syndrome

  0.11

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

Protein function (UniProt)