AFF4, AF4/FMR2 family member 4, 27125

N. diseases: 62; N. variants: 12
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 These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. 25730767 2015