TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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