TBR1, T-box brain transcription factor 1, 10716

N. diseases: 5; N. variants: 23
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116175783
rs116175783
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0021704
Disease:
Intelligence 		C 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs1173646549
rs1173646549
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT
dbSNP: rs147026901
rs147026901
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT
dbSNP: rs1553510171
rs1553510171
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510171
rs1553510171
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510217
rs1553510217
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510217
rs1553510217
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510280
rs1553510280
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510280
rs1553510280
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT Functional characterization of TBR1 variants in neurodevelopmental disorder. 30250039 2018
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537 2014
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1837397
Disease:
Severe global developmental delay 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760 2014
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. 14593429 2003
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT De novo TBR1 mutations in sporadic autism disrupt protein functions. 25232744 2014
dbSNP: rs1553510301
rs1553510301
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C1853755
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
dbSNP: rs1553510303
rs1553510303
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510313
rs1553510313
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510313
rs1553510313
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510385
rs1553510385
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0856975
Disease:
Autistic behavior 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510385
rs1553510385
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C2237142
Disease:
Moderate global developmental delay 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553510492
rs1553510492
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0233514
Disease:
Abnormal behavior 		G 0.700 CausalMutation CLINVAR