NAV3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Umbilical hernia

  0.50

• Abnormality of the skeletal system

  0.48

• esophageal disorder

  0.47

• neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities

  0.46

• Hernia of the abdominal wall

  0.42

• ventral hernia

  0.40

• liver disorder

  0.36

• gastroesophageal reflux disease

  0.33

• placenta praevia

  0.33

• endometrial cancer

  0.32

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

Protein function (UniProt)

Diseases associated with NAV3

Curated MONDO disease pages that list NAV3 among their top associated genes.

• placenta praeviaRare
• liver disorderRare