ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Aarskog syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.010 GeneticVariation disease BEFREE Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane. 11181572 2001