GDNF

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Familial Hirschsprung Disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Gastrointestinal neuromuscular disorders

  Unknown

• CAKUT

• Familial pulmonary fibrosis

• Inherited phaeochromocytoma and paraganglioma

• Paediatric pseudo-obstruction syndrome

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Sudden death in young people

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Unexplained kidney failure in young people

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Disease associations (Open Targets)

• schizophrenia

  0.44

• prostate carcinoma

  0.35

• Hirschsprung disease

  0.35

• obesity disorder

  0.34

• anorexia nervosa

  0.33

• gestational diabetes

  0.33

• liver disorder

  0.31

• diverticular disease

  0.30

• Abnormal nasolacrimal system morphology

  0.24

• male reproductive system disorder

  0.24

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

Protein function (UniProt)