GTF2IRD1, GTF2I repeat domain containing 1, 9569

N. diseases: 222; N. variants: 8
Disease: Dysmorphic features ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.010 Biomarker disease BEFREE The dysmorphic features observed in WBS were specific and manifested in majority of cases. 30380201 2018