ALDH3A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Autosomal recessive congenital ichthyosis

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Sjögren-Larsson syndrome

  0.85

• Sjogren-Larsson syndrome

  0.82

• hereditary disease

  0.42

• cerebral palsy

  0.34

• neurodegenerative disease

  0.19

• sialadenitis

  0.15

• adolescent idiopathic scoliosis

  0.12

• neoplasm

  0.10

• gastric cancer

  0.09

• nonpapillary renal cell carcinoma

  0.08

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

Protein function (UniProt)