ARHGAP31

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

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• VACTERL-like phenotypes

Disease associations (Open Targets)

• Adams-Oliver syndrome

  0.74

• hypertensive disorder

  0.38

• cerebral palsy

  0.27

• urinary system disorder

  0.23

• response to vaccine

  0.22

• hereditary disease

  0.19

• celiac disease

  0.18

• Intellectual disability

  0.15

• systemic lupus erythematosus

  0.12

• autoimmune disease

  0.09

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

Protein function (UniProt)