SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Cleft uvula ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266122
Disease: Cleft uvula
Cleft uvula 		0.200 Biomarker disease MGD Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 16960803 2006