GTF2IRD1, GTF2I repeat domain containing 1, 9569

N. diseases: 222; N. variants: 8
Disease: Williams Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models. 31418010 2019
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Among 110 SNPs within the 7q11.23 WS chromosomal region, we found one associated locus (p = 5e-5) located at GTF2IRD1, which has been implicated in animal models of WS. 29884845 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE The social phenotype of WBS has been linked to <i>GTF2I</i> or general transcription factor IIi (<i>TFII-I</i>). 29568691 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE The GTF2I and GTF2IRD1 genes encoding the TFII-I family of transcription factors are prime candidates for the Williams-Beuren syndrome, a complex multisystem disorder characterized by craniofacial, skeletal, and neurocognitive deficiencies. 28085512 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE All patients received 3.7- to 5.5-GBq radioactive iodine (RAI) ablation, post-therapy whole-body scans (TxWBSs), and diagnostic WBS (DxWBSs) during follow-up. 27572060 2017
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE An In Vivo Gain-of-Function Screen Identifies the Williams-Beuren Syndrome Gene GTF2IRD1 as a Mammary Tumor Promoter. 27239038 2016
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Objectives :  GTF2I and GTF2IRD1 genes located in Williams-Beuren syndrome (WBS) critical region encode TFII-I family transcription factors. 23145914 2013
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE The GTF gene family of transcription factors (GTF2I, GTF2IRD1 and GTF2IRD2) are all highly expressed in the brain, and GTF2I and GTF2IRD1 are involved in the pathogenesis of the cognitive and behavioural phenotypes associated with WBS. 23118870 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease MGD Our study strongly supports a role for GTF2IRD1 in the motoric and anxiety-related abnormalities seen in Williams-Beuren syndrome, and suggests basal ganglia and potentially cerebellar abnormalities in Gtf2ird1 mice. 22652393 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease MGD These data provide new mechanistic insight into the clinical genetic findings in WBS patients and indicate that insufficiency of GTF2IRD1 protein contributes to abnormalities of facial development, motor function and specific behavioural disorders that accompany this disease. 22198572 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Detailed analyses of homozygous null Gtf2ird1 mice have revealed a series of phenotypes that share some intriguing parallels with WBS. 22198572 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease 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
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE GTF2IRD2 belongs to a family of transcriptional regulators (including TFII-I and GTF2IRD1) that are responsible for many of the key features of Williams-Beuren syndrome (WBS). 22899722 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment. 22608712 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease CTD_human This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. 20007321 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Along with previously reported cases, clinical-molecular correlations in these two families further confirm that the functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of WBS. 19897463 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE The existing mouse models certainly seem to implicate hemizygosity for ELN, BAZ1B, CLIP2, and GTF2IRD1 in WS, and new mice with large deletions of the WS region are helping us to understand both the additive and potential combinatorial effects of hemizygosity for specific genes. 20425782 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 AlteredExpression disease BEFREE This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. 20007321 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE These results combine with previous data from small deletions to suggest the gene GTF2IRD1 is associated with WS facies and VSC, and that GTF2I may contribute to WS social behaviors including increased gaze and attention to strangers. 19205026 2009
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Analysis of atypical small and rare chromosomal deletions at 7q11.23 points to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for craniofacial and cognitive abnormalities in the Williams-Beuren syndrome. 19111598 2009
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease MGD A subset of Gtf2ird1 and Gtf2i heterozygotes displayed microcephaly, retarded growth, and skeletal and craniofacial defects, therefore showing that haploinsufficiency of TFII-I proteins causes various developmental anomalies that are often associated with WBS. 19109438 2009
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 AlteredExpression disease BEFREE Expression of Gtf2ird1 in these tissues correlates with the manifestation of some of the clinical features of Williams syndrome. 17239664 2007
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease MGD In humans, a rare WBS individual with an atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. 16293761 2005
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1. 16293761 2005
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. 12865760 2004