GNS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Mucopolysaccharideosis, Gaucher, Fabry

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mucopolysaccharidosis type 3D

  0.81

• mucopolysaccharidosis type 3

  0.47

• mucopolysaccharidosis

  0.37

• preeclampsia

  0.28

• ventricular fibrillation

  0.24

• hair color

  0.22

• hereditary disease

  0.19

• rheumatoid arthritis

  0.07

• chronic obstructive pulmonary disease

  0.04

• nodular goiter

  0.02

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

Protein function (UniProt)