SALL4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Deafness and congenital structural abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Ocular coloboma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Radial dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Duane-radial ray syndrome

  0.82

• IVIC syndrome

  0.71

• Okihiro syndrome

  0.68

• neurodegenerative disease

  0.55

• appendicitis

  0.40

• hepatocellular carcinoma

  0.40

• melanoma

  0.39

• Abnormality of the skeletal system

  0.39

• colon adenocarcinoma

  0.39

• Duane retraction syndrome

  0.38

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

Protein function (UniProt)