SEMA3E

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Choanal atresia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Differences in sex development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hypogonadotropic hypogonadism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary immunodeficiency or monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• CHARGE syndrome

  0.55

• open-angle glaucoma

  0.43

• hypogonadotropic hypogonadism 5 with or without anosmia

  0.41

• CHD7-related CHARGE syndrome

  0.37

• alcohol drinking

  0.35

• Anxiety

  0.31

• schizophrenia

  0.30

• Paralytic ileus

  0.30

• oral mucosa leukoplakia

  0.29

• skin disorder

  0.29

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

Protein function (UniProt)