ACTG2, actin gamma 2, smooth muscle, 72

N. diseases: 6; N. variants: 17
Disease: Visceral Myopathy ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 Biomarker disease GENOMICS_ENGLAND New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 25998219 2015
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 GeneticVariation disease UNIPROT Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24676022 2014
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 GeneticVariation disease UNIPROT De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24337657 2014
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 Biomarker disease GENOMICS_ENGLAND De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24337657 2014
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 GeneticVariation disease UNIPROT Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. 24777424 2014
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 GeneticVariation disease UNIPROT Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. 22960657 2012
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 Biomarker disease CTD_human
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 Biomarker disease GENOMICS_ENGLAND