SMARCAL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Cerebral vascular malformations

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Schimke immuno-osseous dysplasia

  0.84

• focal segmental glomerulosclerosis

  0.48

• steroid-resistant nephrotic syndrome

  0.43

• microcephaly

  0.43

• Disproportionate short-trunk short stature

  0.43

• Small for gestational age

  0.43

• familial atrioventricular septal defect

  0.43

• Short stature

  0.43

• Decreased body weight

  0.43

• Primary microcephaly

  0.43

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

Protein function (UniProt)