ACTG2, actin gamma 2, smooth muscle, 72

N. diseases: 205; N. variants: 17
Disease: Visceral Myopathy, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266833
Disease: Visceral Myopathy, Familial
Visceral Myopathy, Familial 		0.520 GeneticVariation disease BEFREE Variants in ACTG2 were recently identified in FVM with intestinal pseudo-obstruction as well as with the congenital megacystics-microcolon-intestinal hypoperistalsis syndrome. 25782675 2015
CUI: C0266833
Disease: Visceral Myopathy, Familial
Visceral Myopathy, Familial 		0.520 GeneticVariation disease BEFREE We identified the R148S variant in ACTG2 as a cause of FVM in one family. 22960657 2012
CUI: C0266833
Disease: Visceral Myopathy, Familial
Visceral Myopathy, Familial 		0.520 Biomarker disease CTD_human We identified the R148S variant in ACTG2 as a cause of FVM in one family. 22960657 2012
CUI: C0266833
Disease: Visceral Myopathy, Familial
Visceral Myopathy, Familial 		0.520 GermlineCausalMutation disease ORPHANET We identified the R148S variant in ACTG2 as a cause of FVM in one family. 22960657 2012