ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Prune Belly Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.020 GeneticVariation disease BEFREE Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 24998021 2014
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.020 GeneticVariation disease BEFREE R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747 2012