Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aortic Aneurysm, Familial Thoracic 6
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation CLINVAR Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 27567161 2017
Aortic Aneurysm, Familial Thoracic 6
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation CLINVAR Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 27481187 2016
Aortic Aneurysm, Familial Thoracic 6
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
Aortic Aneurysm, Familial Thoracic 6
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation CLINVAR Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 24621862 2014
Arteriopathic disease
CUI: C0852949
Disease: Arteriopathic disease
0.010 GeneticVariation BEFREE Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 27567161 2017
Idiopathic pulmonary hypertension
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
0.010 GeneticVariation BEFREE We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid substitution in ACTA2 in a toddler girl with primary pulmonary hypertension, persistent ductus arteriosus, extensive cerebral white matter lesions, fixed dilated pupils, intestinal malrotation, and hypotonic bladder. 23613326 2013
Hypotonic bladder disorder
CUI: C0403647
Disease: Hypotonic bladder disorder
0.010 GeneticVariation BEFREE We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid substitution in ACTA2 in a toddler girl with primary pulmonary hypertension, persistent ductus arteriosus, extensive cerebral white matter lesions, fixed dilated pupils, intestinal malrotation, and hypotonic bladder. 23613326 2013
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation BEFREE We report on a novel de novo c.535C>T in exon 6 leading to p.R179C aminoacid substitution in ACTA2 in a toddler girl with primary pulmonary hypertension, persistent ductus arteriosus, extensive cerebral white matter lesions, fixed dilated pupils, intestinal malrotation, and hypotonic bladder. 23613326 2013