Gene: BCL11A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. 28589569

2018
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. 28960836

2018
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. 27453576

2016
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. 25979662

2016
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c. 26182416

2015
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. 25938782

2015
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR De novo microdeletion of BCL11A is associated with severe speech sound disorder. 24810580

2014
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development. 22491945

2012
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Bcl11a is essential for lymphoid development and negatively regulates p53. 23230003

2012
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth. 20623620

2010
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth. 19616629

2009
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Area patterning of the mammalian cortex. 17964244

2007
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells. 16704730

2006
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth. 17021036

2006
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain. 15548577

2004
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis. 15465497

2004
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Bcl11a is essential for normal lymphoid development. 12717432

2003
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein. 12196208

2002
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. 11347906

2001
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells. 11161790

2000
dbSNP: rs1553352926
rs1553352926
BCL11A
G 0.700 CausalMutation CLINVAR Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors. 10744719

2000