PDS5B, PDS5 cohesin associated factor B, 23047

N. diseases: 26; N. variants: 8
Disease: Cornelia De Lange Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1344806616
rs1344806616
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C0270972
Disease:
Cornelia De Lange Syndrome 		0.010 GeneticVariation 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