PDS5B, PDS5 cohesin associated factor B, 23047

N. diseases: 26; N. variants: 8
Disease: Cornelia De Lange Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.010 GeneticVariation disease BEFREE We further identified a functional missense mutation (R1292Q) in the PDS5B DNA-binding domain in a familial case of CdLS, in which affected individuals also develop megacolon. 19412548 2009