FARSA

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

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Intracerebral calcification disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Rajab interstitial lung disease with brain calcifications 2

  0.62

• Rajab interstitial lung disease with brain calcifications 1

  0.37

• diabetes mellitus

  0.13

• type 2 diabetes mellitus

  0.10

• colorectal carcinoma

  0.08

• mantle cell lymphoma

  0.07

• Hypocalcemic vitamin D-resistant rickets

  0.06

• hyperinsulinism due to INSR deficiency

  0.05

• hyperinsulinism due to glucokinase deficiency

  0.05

• autosomal dominant hypophosphatemic rickets

  0.04

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