Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0013421
Disease: Dystonia
Dystonia 		0.320 GeneticVariation 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
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0013421
Disease: Dystonia
Dystonia 		0.320 Biomarker CTD_human A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646

2006
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0013421
Disease: Dystonia
Dystonia 		0.320 GeneticVariation BEFREE A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646

2006
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0013421
Disease: Dystonia
Dystonia 		0.320 GeneticVariation LHGDN A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646

2006