ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: Congenital Fiber Type Disproportion ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909530
rs121909530
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		0.800 GeneticVariation UNIPROT The pathogenesis of ACTA1-related congenital fiber type disproportion. 17387733 2007
dbSNP: rs121909530
rs121909530
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		0.800 GeneticVariation UNIPROT Actin mutations are one cause of congenital fibre type disproportion. 15468086 2004
dbSNP: rs121909530
rs121909530
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0546264
Disease:
Congenital Fiber Type Disproportion 		G 0.800 CausalMutation CLINVAR