TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
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
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.410 GeneticVariation group BEFREE Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD. 30250039 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.410 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.410 GeneticVariation group CLINVAR
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT Functional characterization of TBR1 variants in neurodevelopmental disorder. 30250039 2018
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT De novo TBR1 mutations in sporadic autism disrupt protein functions. 25232744 2014
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760 2014
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537 2014
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 GeneticVariation disease UNIPROT Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. 14593429 2003
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.400 CausalMutation disease CLINVAR
CUI: C3279875
Disease: CORTICAL MALFORMATIONS, OCCIPITAL
CORTICAL MALFORMATIONS, OCCIPITAL 		0.300 GermlineCausalMutation disease ORPHANET Mutations in TBR1 gene leads to cortical malformations and intellectual disability. 30268909 2018
CUI: C2931816
Disease: Chromosome 2, monosomy 2q24
Chromosome 2, monosomy 2q24 		0.300 GeneticVariation phenotype ORPHANET TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion. 24458984 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.280 GeneticVariation disease BEFREE Mutations in <i>Tbr1</i>, a high-confidence ASD (autism spectrum disorder)-risk gene encoding the transcriptional regulator TBR1, have been shown to induce diverse ASD-related molecular, synaptic, neuronal, and behavioral dysfunctions in mice. 31680851 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.280 Biomarker disease BEFREE Our previous study demonstrated that TBR1, a causative gene of ASD, controls axonal projection and neuronal activation of amygdala and regulates social interaction and vocal communication in a mouse model. 30792833 2019