GZF1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Stickler syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• joint laxity, short stature, and myopia

  0.72

• Larsen syndrome

  0.53

• Autosomal dominant Larsen syndrome

  0.51

• hereditary disease

  0.19

• urticaria

  0.10

• early-onset non-syndromic cataract

  0.09

• Posterior polar cataract

  0.08

• Total congenital cataract

  0.08

• early-onset zonular cataract

  0.08

• Partial congenital cataract

  0.08

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

Protein function (UniProt)