TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
0.400 GeneticVariation disease UNIPROT Functional characterization of TBR1 variants in neurodevelopmental disorder. 30250039 2018
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
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
0.400 GeneticVariation disease UNIPROT Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760 2014
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
0.400 GeneticVariation disease UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
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
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
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
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: 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