GTF2I, general transcription factor IIi, 2969

N. diseases: 249; N. variants: 14
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 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: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease CTD_human Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. 20007321 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 AlteredExpression disease BEFREE Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. 19282872 2009
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 AlteredExpression disease BEFREE Identification of pathways regulated by TFII-I family transcription factors may begin to shed light on the molecular determinants of WBS. 19880526 2009
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 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 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 BEFREE Genotype-phenotype comparisons of patients carrying variable deletions within this region have implicated GTF2IRD1 and a closely related homolog, GTF2I, as prime candidates for the causation of the principal symptoms of Williams syndrome. 17239664 2007
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. 17823943 2007
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE These observations are consistent with the involvement of GTF2IRD1 or GTF2I in some of the WBS facial features. 15994861 2006
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE TFII-I immunoreactivity is distinct from that of the related protein, TFII-IRD1, which is also localized to the region of human chromosome 7 deleted in WS. 14751286 2004
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. 15388857 2004
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS. 14556246 2003
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Both GTF3 and GTF2I map within the WS deleted region, with GTF2I being positioned distal to GTF3. 10573005 2000
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 GeneticVariation disease BEFREE Here we describe the identification and characterization of a novel gene named GTF2IRD1, for GTF2I-repeat domain 1, within the WBS deletion region. 10575229 1999
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE GTF2I is deleted in WBS, while a truncated centromeric pseudogene (GTF2IP1) is not deleted. 9521869 1998
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.600 Biomarker disease BEFREE Hemizygosity for GTF2I may also contribute to the WBS phenotype. 9466987 1998
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.400 GeneticVariation disease GWASCAT Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study. 27503288 2016
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.400 GeneticVariation disease GWASDB A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. 24097066 2013
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.400 Biomarker disease CTD_human A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. 24097066 2013
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.400 GeneticVariation disease GWASCAT A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. 24097066 2013