ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Cerebrofrontofacial Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837819
Disease: Cerebrofrontofacial Syndrome
Cerebrofrontofacial Syndrome 		0.010 GeneticVariation disease BEFREE Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. 25052316 2015