NBAS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• infantile liver failure syndrome 2

  0.82

• short stature-optic atrophy-Pelger-Huët anomaly syndrome

  0.79

• infantile liver failure

  0.55

• acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

  0.55

• Acute infantile liver failure-multisystemic involvement syndrome

  0.50

• retinal disorder

  0.42

• Retinal dystrophy

  0.40

• Leber congenital amaurosis

  0.39

• major depressive disorder

  0.39

• immune system disorder

  0.37

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

Protein function (UniProt)