×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
28960836
2018
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
28589569
2018
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
27453576
2016
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.
25979662
2016
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Large-scale discovery of novel genetic causes of developmental disorders.
25533962
2015
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
25938782
2015
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.
26182416
2015
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
De novo microdeletion of BCL11A is associated with severe speech sound disorder.
24810580
2014
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Synaptic, transcriptional and chromatin genes disrupted in autism.
25363760
2014
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Bcl11a is essential for lymphoid development and negatively regulates p53.
23230003
2012
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
De novo gene disruptions in children on the autistic spectrum.
22542183
2012
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development.
22491945
2012
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.
20623620
2010
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth.
19616629
2009
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Area patterning of the mammalian cortex.
17964244
2007
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
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
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.
17021036
2006
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.
15465497
2004
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain.
15548577
2004
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Bcl11a is essential for normal lymphoid development.
12717432
2003
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
CausalMutation
CLINVAR
COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein.
12196208
2002
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
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
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
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
×
Entrez Id:
53335
Gene Symbol:
BCL11A
BCL11A
Muscle hypotonia
0.100
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