FBP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• fructose-1,6-bisphosphatase deficiency

  0.81

• disorder of glycogen metabolism

  0.57

• Glycogen storage disease due to glycogenin deficiency

  0.50

• hereditary disease

  0.41

• anxiety disorder

  0.29

• Alzheimer disease

  0.28

• Abnormal nasolacrimal system morphology

  0.26

• multinodular goiter

  0.26

• ovarian neoplasm

  0.21

• diabetes mellitus

  0.17

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

Protein function (UniProt)