RASA2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Monogenic short stature

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• RASopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pigmentary skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Noonan syndrome

  0.48

• obesity disorder

  0.39

• Abnormality of the skeletal system

  0.38

• osteoarthritis, knee

  0.34

• neurodegenerative disease

  0.33

• smoking behavior

  0.32

• rhinitis

  0.29

• Crohn disease

  0.28

• overnutrition

  0.28

• osteoarthritis, hip

  0.26

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

Protein function (UniProt)