ANKRD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

• Hypertrophic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• familial isolated dilated cardiomyopathy

  0.38

• alcohol drinking

  0.34

• tooth disorder

  0.33

• schizophrenia

  0.24

• dilated cardiomyopathy

  0.20

• ankrd1-related dilated cardiomyopathy

  0.19

• Abnormality of the cardiovascular system

  0.19

• refractive error

  0.19

• autosomal dominant dilated cardiomyopathy

  0.18

• cardiomyopathy

  0.18

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

Protein function (UniProt)

Diseases associated with ANKRD1

Curated MONDO disease pages that list ANKRD1 among their top associated genes.

• tooth disorderRare