ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Pigmented hairy epidermal nevus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		0.310 SomaticCausalMutation disease ORPHANET Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome. 28347698 2017
CUI: C0263579
Disease: Pigmented hairy epidermal nevus
Pigmented hairy epidermal nevus 		0.310 GeneticVariation disease BEFREE The etiology of Becker's nevus and Becker's nevus syndrome has been until now unknown.Cai et al. provide evidence that these disorders are caused by lethal mutations in ACTB, a gene coding for beta-actin. 28625464 2017