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: 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