ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia
0.320 GeneticVariation phenotype BEFREE ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. 29788902 2018
CUI: C0013421
Disease: Dystonia
Dystonia
0.320 Biomarker phenotype CTD_human A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C0013421
Disease: Dystonia
Dystonia
0.320 GeneticVariation phenotype BEFREE A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C0013421
Disease: Dystonia
Dystonia
0.320 GeneticVariation phenotype LHGDN A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006