STAG2, stromal antigen 2, 10735

N. diseases: 132; N. variants: 8
Disease: Xq25 TRIPLICATION SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310830
Disease: Xq25 TRIPLICATION SYNDROME
Xq25 TRIPLICATION SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. 25677961 2016
CUI: C4310830
Disease: Xq25 TRIPLICATION SYNDROME
Xq25 TRIPLICATION SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. 26443594 2015