Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR BCL11B regulates sutural patency in the mouse craniofacial skeleton. 26453795

2016
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development. 25511173

2015
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion. 24458984

2014
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR De novo TBR1 mutations in sporadic autism disrupt protein functions. 25232744

2014
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions. 23112752

2012
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR A network of genetic repression and derepression specifies projection fates in the developing neocortex. 23144223

2012
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor. 22629441

2012
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Role of the transcription factor Bcl11b in development and lymphomagenesis. 22450536

2012
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia. 21878675

2011
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling. 21912641

2011
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis. 19251658

2009
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes. 18831712

2009
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation. 19092943

2009
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood. 17631058

2007
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter. 16091750

2005
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo. 15664173

2005
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis. 15465497

2004
dbSNP: rs1314314373
rs1314314373
BCL11B
A 0.700 GeneticVariation CLINVAR Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas. 12565905

2003