ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Blood Platelet Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		0.310 Biomarker group BEFREE Consequently, defects in proteins controlling actin dynamics have been associated with platelet disorders in humans and mice. 28743718 2017
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		0.310 Biomarker group GENOMICS_ENGLAND De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012