ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Moyamoya disease 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766734961
rs766734961
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2931384
Disease:
Moyamoya disease 1 		0.010 GeneticVariation BEFREE The mutation R256H is of particular interest because it also causes patent ductus arteriosus and moyamoya disease. 22753406 2012
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2931384
Disease:
Moyamoya disease 1 		0.010 GeneticVariation BEFREE One new mutation (R179H, heterozygous) in exon 6 of ACTA2 was found in one patient with MMD. 20970362 2011