NAGA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  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

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Disease associations (Open Targets)

• alpha-N-acetylgalactosaminidase deficiency type 2

  0.80

• alpha-N-acetylgalactosaminidase deficiency

  0.76

• alpha-N-acetylgalactosaminidase deficiency type 1

  0.75

• alpha-N-acetylgalactosaminidase deficiency type 3

  0.59

• hereditary disease

  0.42

• Seizure

  0.37

• neurodegenerative disease

  0.35

• Intellectual disability

  0.16

• intelligence

  0.14

• arthrogryposis multiplex congenita

  0.12

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

Protein function (UniProt)