ALPK3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hypertrophic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hypertrophic cardiomyopathy

  0.74

• Abnormality of the cardiovascular system

  0.57

• cardiomyopathy

  0.54

• neurodevelopmental disorder

  0.43

• hydrops fetalis

  0.37

• hypothyroidism

  0.37

• familial hypertrophic cardiomyopathy

  0.34

• neurodegenerative disease

  0.31

• Abnormality of the skeletal system

  0.30

• esophageal ulcer

  0.28

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

Protein function (UniProt)