AJAP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• alcohol drinking

  0.47

• hypertrophic cardiomyopathy

  0.37

• bronchial disorder

  0.33

• poisoning

  0.33

• smoking initiation

  0.32

• developmental dysplasia of the hip

  0.32

• COVID-19

  0.32

• severe acute respiratory syndrome

  0.31

• oral mucosa leukoplakia

  0.29

• frozen shoulder

  0.29

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

Protein function (UniProt)

Diseases associated with AJAP1

Curated MONDO disease pages that list AJAP1 among their top associated genes.

• poisoningRare