TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 GeneticVariation disease BEFREE In humans, de novo mutations in TBR1 are important causes of sporadic autism and intellectual disability. 28057268 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 GeneticVariation disease BEFREE Because TBR1 is critical for glutamate receptor, ionotropic, <i>N</i>-methyl-D-aspartate receptor subunit 2B (<i>Grin2b</i>) expression and is a causative gene for autism and intellectual disability, we then generated CASK T740A (corresponding to rat CASK T724A) mutant mice using a gene-targeting approach. 28234597 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 Biomarker disease BEFREE TBR1 regulates autism risk genes in the developing neocortex. 27325115 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 GeneticVariation disease BEFREE Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. 25232744 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 Biomarker disease BEFREE In humans, PAX6, EOMES, and TBR1 have been linked to intellectual disability and autism. 23431145 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 Biomarker disease CTD_human
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.650 Biomarker disease HPO