ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Adams Oliver syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.010 Biomarker disease BEFREE Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011