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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.310 Biomarker disease CTD_human Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. 22048961 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.310 Biomarker disease BEFREE Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. 22048961 2012
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C1266101
Disease: Thymic epithelial tumor
Thymic epithelial tumor 		0.300 Biomarker disease CTD_human A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors. 24974848 2014
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		0.300 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.300 Biomarker disease CTD_human Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias. 18206229 2008
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		0.300 Biomarker disease CTD_human Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias. 18206229 2008
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.300 Biomarker disease CTD_human Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias. 18206229 2008
CUI: C0003467
Disease: Anxiety
Anxiety 		0.130 AlteredExpression disease BEFREE Intracisternal Gtf2i-gene therapy in CD mice using adeno-associated virus resulted in increased mGtf2i expression and normalization of Bdnf levels, along with beneficial effects in motor coordination, sociability, and anxiety, despite no significant changes in neuronal architecture. 26216516 2015
CUI: C0003467
Disease: Anxiety
Anxiety 		0.130 GeneticVariation disease BEFREE These results demonstrate that sequence variation in the GTF2I gene influences the relationship between trait anxiety and brain response to aversive social cues in healthy individuals, supporting a role for this neurogenetic mechanism in anxiety. 26285132 2015
CUI: C0003467
Disease: Anxiety
Anxiety 		0.130 Biomarker disease BEFREE Relative to mouse pups with one or two Gtf2i copies, pups with additional Gtf2i copies showed significantly increased maternal separation-induced anxiety as measured by ultrasonic vocalizations. 22578324 2012
CUI: C0003467
Disease: Anxiety
Anxiety 		0.130 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 GeneticVariation disease BEFREE We genotyped a large set of healthy individuals for two single-nucleotide polymorphisms in the GTF2I gene that have recently been significantly associated with autism, and thus apparently exhibit functional effects on autism-related social phenotypes. 25429715 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 GeneticVariation disease BEFREE Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. 22048961 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.120 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.110 GeneticVariation disease BEFREE The interrelations among well-being, neuroticism, and depression can be captured in a so-called well-being spectrum (3-phenotype well-being spectrum, 3-WBS). 30810878 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.110 Biomarker group BEFREE Feasibility trial for primary stroke prevention in children with sickle cell anemia in Nigeria (SPIN trial). 28439953 2017
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 Biomarker disease BEFREE Furthermore, gene signal transduction networks analysis indicated that mitogen-activated protein kinase kinase 1 (MAP2K1), SMAD family member 3 (SMAD3), homeobox C6 (HOXC6), heat shock 70kDa protein 6 (HSPA6), general transcription factor IIi (GTF2I), CREB binding protein (CREBBP), phosphoinositide-3-kinase, regulatory subunit 2 (PIK3R2), and dual specificity phosphatase 2 (DUSP2) may play essential roles in AIS pathogenesis and accompanied osteopenia. 26679893 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group LHGDN 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group 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