ACTA1, actin alpha 1, skeletal muscle, 58

N. diseases: 217; N. variants: 59
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		0.700 Biomarker disease GENOMICS_ENGLAND Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 25938801 2015
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		0.700 GeneticVariation disease UNIPROT Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 25938801 2015
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		0.700 GermlineCausalMutation disease ORPHANET Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 25938801 2015
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		0.700 Biomarker disease CTD_human
CUI: C4225181
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL
MYOPATHY, SCAPULOHUMEROPERONEAL 		0.700 CausalMutation disease CLINVAR