ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE Mutations of the ACTA2 gene, which encodes the smooth muscle cell-specific isoform of α-actin protein, have recently been found to be among the most common genetic abnormalities observed in patients with familial thoracic aortic aneurysms/dissection (TAAD). 22946110 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE Mutations in exons 5 and 6 of the cardiac actin gene that have been reported in humans with familial DCM do not appear to be the cause of familial DCM in Doberman Pinschers. 11197556 2001
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 Biomarker disease BEFREE Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy. 10494087 1999