ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Juvenile-onset dystonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		0.800 GeneticVariation UNIPROT A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		A 0.800 CausalMutation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		A 0.800 CausalMutation CLINVAR Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 12325076 2002
dbSNP: rs1166509821
rs1166509821
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		C 0.700 GeneticVariation CLINVAR