SATB2, SATB homeobox 2, 23314

N. diseases: 233; N. variants: 38
Disease: Hypodontia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.110 Biomarker disease BEFREE We here report on a girl with intellectual disability, nearly absent speech and suspected hypodontia who was shown to carry an intragenic SATB2 tandem duplication hypothesized to lead to haploinsufficiency of SATB2. 25118029 2015
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.110 Biomarker disease HPO