GTF2IRD1, GTF2I repeat domain containing 1, 9569

N. diseases: 222; N. variants: 8
Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 Biomarker group BEFREE Definition of this site will assist in identification of other downstream targets of GTF2IRD1 and elucidation of its role in the human developmental disorder Williams-Beuren syndrome. 17346708 2007