GTF2I, general transcription factor IIi, 2969

N. diseases: 249; N. variants: 14
Disease: Impaired cognition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.030 Biomarker disease BEFREE Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome. 22608712 2012
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.030 Biomarker disease BEFREE Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients. 19568270 2010
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.030 GeneticVariation disease BEFREE These observations are consistent with the hypothesis that deletion of the gene for TFII-I contributes to the cognitive impairments observed in WS. 14751286 2004