GTF2I, general transcription factor IIi, 2969

N. diseases: 249; N. variants: 14
Disease: Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 GeneticVariation phenotype BEFREE De novo CNVs of known pathogenic significance in other genomic disorders were also observed, including deletion at the TAR (thrombocytopenia absent radius) region on 1q21.1 and duplication at the WBS (Williams-Beuren syndrome) region at 7q11.23. 22083728 2012