SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome
0.300 ChromosomalRearrangement disease ORPHANET Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. 21343628 2011
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome
0.300 ChromosomalRearrangement disease ORPHANET Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 19668335 2009