FARSB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

• Intracerebral calcification disorders

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Rajab interstitial lung disease with brain calcifications 1

  0.79

• Rajab interstitial lung disease with brain calcifications

  0.61

• cirrhosis of liver

  0.50

• Cerebral calcification

  0.50

• Vascular dilatation

  0.50

• Interstitial pneumonitis

  0.50

• interstitial lung disease

  0.42

• microcephaly

  0.42

• Intellectual disability

  0.42

• neurodegenerative disease

  0.40

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