Source: MGD

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		disease 0.930 None 1.000 1 0 1988 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1834339
Disease: Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 		disease 0.600 strong 1.000 1 0 2009 2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C2750537
Disease: Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Cores 		disease 0.600 strong 1.000 1 0 2009 2011
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C2750536
Disease: Nemaline Myopathy 3, With Intranuclear Rods
Nemaline Myopathy 3, With Intranuclear Rods 		disease 0.200 None 1.000 1 0 2011 2011