AVP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary isolated diabetes insipidus

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

• Monogenic nephrogenic diabetes insipidus

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

• Multi-organ autoimmune diabetes

Disease associations (Open Targets)

• neurohypophyseal diabetes insipidus

  0.78

• Hereditary central diabetes insipidus

  0.78

• diabetes insipidus

  0.28

• hereditary disease

  0.19

• stroke disorder

  0.12

• Stroke

  0.12

• hydrops fetalis

  0.11

• diabetes mellitus

  0.11

• autosomal dominant polycystic kidney disease

  0.11

• autism

  0.11

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

Protein function (UniProt)