Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Structure of the F-actin-tropomyosin complex. 25470062

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689

2009
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes. 17227580

2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 15226407

2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.110 CausalMutation CLINVAR Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 12921789

2003