RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
Disease: Abnormality of the skeletal system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 GeneticVariation disease BEFREE Missense mutations and whole gene deletions in RAD21 have been identified in children with growth retardation, minor skeletal anomalies and facial features that overlap findings in individuals with CdLS. 24378232 2014