SAMD12

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

• benign adult familial myoclonic epilepsy

  0.61

• epilepsy, familial adult myoclonic

  0.37

• dermatophytosis

  0.33

• tooth disorder

  0.32

• prostate carcinoma

  0.30

• mathematical ability

  0.30

• pericarditis

  0.29

• age-related macular degeneration

  0.29

• radius fracture

  0.27

• ulna fracture

  0.27

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

Diseases associated with SAMD12

Curated MONDO disease pages that list SAMD12 among their top associated genes.

• tooth disorderRare