ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265541
Disease: Cranioschisis
Cranioschisis
0.300 Biomarker disease CTD_human De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012