ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Juvenile-onset dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 Biomarker disease GENOMICS_ENGLAND Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation. 29788902 2018
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 GermlineCausalMutation disease ORPHANET A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 CausalMutation disease CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 GeneticVariation disease UNIPROT A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 CausalMutation disease CLINVAR Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 12325076 2002
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 Biomarker disease CTD_human
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1846331
Disease: Juvenile-onset dystonia
Juvenile-onset dystonia 		0.700 GeneticVariation disease CLINVAR