ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Adenosine Deaminase 2 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4289994
Disease: Adenosine Deaminase 2 Deficiency
Adenosine Deaminase 2 Deficiency 		0.010 Biomarker disease BEFREE Recognition of clinical and radiological phenotypic patterns has facilitated the discovery of multisystem disorders associated with arterial ischemic stroke including ACTA2 arteriopathy and adenosine deaminase 2 deficiency. 30079825 2019