Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	53335
Gene name Gene Name - the full gene name approved by the HGNC.	BCL11 transcription factor A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BCL11A
Synonyms (NCBI Gene) Gene synonyms aliases	CTIP1, DILOS, EVI9, HBFQTL5, SMARCM1, ZNF856
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p16.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, throug

Show/Hide all(25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11886868	C>T	Likely-pathogenic, benign	Intron variant
rs761909641	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs768799046	->G,GGGG,GGGTTTTGAAGGGGGGGGGGGGGGGG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886037864	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs886037865	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant
rs886037866	G>T	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs886037867	->ACC	Pathogenic	Coding sequence variant, inframe insertion, intron variant
rs886037868	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs1057524042	G>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant, stop gained
rs1303665345	C>A,G	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1553352926	A>G	Pathogenic	Splice donor variant
rs1553353022	C>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1553353092	C>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1553354668	->TTGCTTGC	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1553403049	CTCGGCC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553403363	->TGTG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553403551	T>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553403688	AGGGATACCAA>-	Pathogenic	Splice donor variant, intron variant, frameshift variant, coding sequence variant
rs1553403736	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553403745	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558519119	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1558519731	C>G	Likely-pathogenic	Upstream transcript variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs1558612412	GGCAGGGCGCGGCTCTCGTCGCCCACGCCCA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1572967548	GGAGG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1573096202	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant

Show/Hide all(113)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019481	hsa-miR-148b-3p	Microarray	17612493
MIRT019603	hsa-miR-340-5p	Sequencing	20371350
MIRT020396	hsa-miR-29c-3p	Sequencing	20371350
MIRT026052	hsa-miR-196a-5p	Sequencing	20371350
MIRT028335	hsa-miR-32-5p	Sequencing	20371350
MIRT053329	hsa-miR-486-3p	Luciferase reporter assay, qRT-PCR, Western blot	23593217
MIRT054585	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	23758992
MIRT054585	hsa-miR-30a-5p	Luciferase reporter assay, Western blot	23758992
MIRT529157	hsa-miR-3936	PAR-CLIP	22012620
MIRT529156	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT529155	hsa-miR-92a-1-5p	PAR-CLIP	22012620
MIRT089000	hsa-miR-2110	PAR-CLIP	22012620
MIRT529154	hsa-miR-6810-5p	PAR-CLIP	22012620
MIRT529153	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT529152	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT529151	hsa-miR-6857-5p	PAR-CLIP	22012620
MIRT088998	hsa-miR-450a-2-3p	PAR-CLIP	22012620
MIRT731890	hsa-miR-138-5p	Luciferase reporter assay, Next Generation Sequencing (NGS), qRT-PCR, RNA-binding protein immunoprecipitation, Western blot	28303002
MIRT731890	hsa-miR-138-5p	Luciferase reporter assay, Next Generation Sequencing (NGS), qRT-PCR, RNA-binding protein immunoprecipitation, Western blot	28303002
MIRT735688	hsa-miR-92a-3p	Microarray	32006661
MIRT529157	hsa-miR-3936	PAR-CLIP	22012620
MIRT529156	hsa-miR-376c-3p	PAR-CLIP	22012620
MIRT529155	hsa-miR-92a-1-5p	PAR-CLIP	22012620
MIRT089000	hsa-miR-2110	PAR-CLIP	22012620
MIRT529154	hsa-miR-6810-5p	PAR-CLIP	22012620
MIRT529153	hsa-miR-3150a-3p	PAR-CLIP	22012620
MIRT529152	hsa-miR-6763-5p	PAR-CLIP	22012620
MIRT529151	hsa-miR-6857-5p	PAR-CLIP	22012620
MIRT088998	hsa-miR-450a-2-3p	PAR-CLIP	22012620
MIRT818160	hsa-miR-148a	CLIP-seq
MIRT818161	hsa-miR-148b	CLIP-seq
MIRT818162	hsa-miR-152	CLIP-seq
MIRT818163	hsa-miR-155	CLIP-seq
MIRT818164	hsa-miR-183	CLIP-seq
MIRT818165	hsa-miR-214	CLIP-seq
MIRT818166	hsa-miR-302a	CLIP-seq
MIRT818167	hsa-miR-302b	CLIP-seq
MIRT818168	hsa-miR-302c	CLIP-seq
MIRT818169	hsa-miR-302d	CLIP-seq
MIRT818170	hsa-miR-302e	CLIP-seq
MIRT818171	hsa-miR-3119	CLIP-seq
MIRT818172	hsa-miR-3128	CLIP-seq
MIRT818173	hsa-miR-3140-3p	CLIP-seq
MIRT818174	hsa-miR-3148	CLIP-seq
MIRT818175	hsa-miR-3158-3p	CLIP-seq
MIRT818176	hsa-miR-3166	CLIP-seq
MIRT818177	hsa-miR-323-3p	CLIP-seq
MIRT818178	hsa-miR-3613-3p	CLIP-seq
MIRT818179	hsa-miR-3619-5p	CLIP-seq
MIRT818180	hsa-miR-3652	CLIP-seq
MIRT818181	hsa-miR-372	CLIP-seq
MIRT818182	hsa-miR-373	CLIP-seq
MIRT818183	hsa-miR-3941	CLIP-seq
MIRT818184	hsa-miR-3976	CLIP-seq
MIRT818185	hsa-miR-4276	CLIP-seq
MIRT818186	hsa-miR-4430	CLIP-seq
MIRT818187	hsa-miR-4470	CLIP-seq
MIRT818188	hsa-miR-4505	CLIP-seq
MIRT818189	hsa-miR-450b-5p	CLIP-seq
MIRT818190	hsa-miR-4643	CLIP-seq
MIRT818191	hsa-miR-466	CLIP-seq
MIRT818192	hsa-miR-4672	CLIP-seq
MIRT818193	hsa-miR-4685-5p	CLIP-seq
MIRT818194	hsa-miR-4771	CLIP-seq
MIRT818195	hsa-miR-4789-3p	CLIP-seq
MIRT818196	hsa-miR-507	CLIP-seq
MIRT818197	hsa-miR-520a-3p	CLIP-seq
MIRT818198	hsa-miR-520b	CLIP-seq
MIRT818199	hsa-miR-520c-3p	CLIP-seq
MIRT818200	hsa-miR-520d-3p	CLIP-seq
MIRT818201	hsa-miR-520e	CLIP-seq
MIRT818202	hsa-miR-548a-3p	CLIP-seq
MIRT818203	hsa-miR-548ae	CLIP-seq
MIRT818204	hsa-miR-548aj	CLIP-seq
MIRT818205	hsa-miR-548am	CLIP-seq
MIRT818206	hsa-miR-548e	CLIP-seq
MIRT818207	hsa-miR-548f	CLIP-seq
MIRT818208	hsa-miR-548x	CLIP-seq
MIRT818209	hsa-miR-549	CLIP-seq
MIRT818210	hsa-miR-557	CLIP-seq
MIRT818211	hsa-miR-561	CLIP-seq
MIRT818212	hsa-miR-569	CLIP-seq
MIRT818213	hsa-miR-761	CLIP-seq
MIRT818214	hsa-miR-885-3p	CLIP-seq
MIRT1920282	hsa-miR-4289	CLIP-seq
MIRT1920282	hsa-miR-4289	CLIP-seq
MIRT1922590	hsa-miR-4282	CLIP-seq
MIRT1941841	hsa-miR-3925-5p	CLIP-seq
MIRT818163	hsa-miR-155	CLIP-seq
MIRT818174	hsa-miR-3148	CLIP-seq
MIRT818176	hsa-miR-3166	CLIP-seq
MIRT818178	hsa-miR-3613-3p	CLIP-seq
MIRT818194	hsa-miR-4771	CLIP-seq
MIRT818209	hsa-miR-549	CLIP-seq
MIRT818212	hsa-miR-569	CLIP-seq
MIRT818163	hsa-miR-155	CLIP-seq
MIRT818212	hsa-miR-569	CLIP-seq
MIRT2484189	hsa-miR-142-5p	CLIP-seq
MIRT2484190	hsa-miR-2355-5p	CLIP-seq
MIRT2484191	hsa-miR-297	CLIP-seq
MIRT2484192	hsa-miR-29a	CLIP-seq
MIRT2484193	hsa-miR-29b	CLIP-seq
MIRT2484194	hsa-miR-29c	CLIP-seq
MIRT2484195	hsa-miR-340	CLIP-seq
MIRT2484196	hsa-miR-4307	CLIP-seq
MIRT2484197	hsa-miR-4422	CLIP-seq
MIRT2484198	hsa-miR-4799-5p	CLIP-seq
MIRT2484199	hsa-miR-567	CLIP-seq
MIRT2484200	hsa-miR-767-5p	CLIP-seq
MIRT2484190	hsa-miR-2355-5p	CLIP-seq
MIRT2484191	hsa-miR-297	CLIP-seq
MIRT2484196	hsa-miR-4307	CLIP-seq
MIRT2484199	hsa-miR-567	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
FOXQ1	Activation	20145154
SIRT1	Repression	15639232

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16704730, 19153051, 29606353
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	19153051
GO:0001067	Function	Transcription regulatory region nucleic acid binding	IDA	29606353
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	16704730, 19153051
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003712	Function	Transcription coregulator activity	IDA	29606353
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19616629
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	19616629
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IDA	19616629
GO:0010977	Process	Negative regulation of neuron projection development	IDA	19616629
GO:0016363	Component	Nuclear matrix	IEA
GO:0016514	Component	SWI/SNF complex	IDA	23644491
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016925	Process	Protein sumoylation	ISS
GO:0019901	Function	Protein kinase binding	IEA
GO:0030517	Process	Negative regulation of axon extension	ISS	19616629
GO:0032463	Process	Negative regulation of protein homooligomerization	IC	19616629
GO:0042382	Component	Paraspeckles	IDA	16704730
GO:0042803	Function	Protein homodimerization activity	IPI	16704730
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	19616629
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	19616629
GO:0048671	Process	Negative regulation of collateral sprouting	IMP	19616629
GO:0048672	Process	Positive regulation of collateral sprouting	IMP	19616629
GO:0050773	Process	Regulation of dendrite development	IMP	19616629
GO:0098794	Component	Postsynapse	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	16704730
GO:1903860	Process	Negative regulation of dendrite extension	IEA
GO:1904800	Process	Negative regulation of neuron remodeling	IEA
GO:1905232	Process	Cellular response to L-glutamate	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000171	Process	Negative regulation of dendrite development	IBA
GO:2000171	Process	Negative regulation of dendrite development	IEA
GO:2000171	Process	Negative regulation of dendrite development	IMP	19616629
GO:2000173	Process	Negative regulation of branching morphogenesis of a nerve	IEA

MIM	HGNC	e!Ensembl
606557	13221	ENSG00000119866

Protein

UniProt ID

Q9H165

Protein name

BCL11 transcription factor A (B-cell CLL/lymphoma 11A) (B-cell lymphoma/leukemia 11A) (BCL-11A) (COUP-TF-interacting protein 1) (Ecotropic viral integration site 9 protein homolog) (EVI-9) (Zinc finger protein 856)

Protein function

Transcription factor (PubMed:16704730, PubMed:29606353). Associated with the BAF SWI/SNF chromatin remodeling complex (PubMed:23644491, PubMed:39607926). Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a

PDB

5VTB , 6KI6 , 6U9Q , 8DTN , 8DTU , 8THO , 8TLO , 9B4P , 9BV0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	378 → 399	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	405 → 427	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	742 → 764	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	770 → 792	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	800 → 823	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development. {ECO:000026

Sequence

MSRRKQGKPQHLSKREFSPEPLEAILTDDEPDHGPLGAPEGDHDLLTCGQCQMNFPLGDI
LIFIEHKRKQCNGSLCLEKAVDKPPSPSPIEMKKASNPVEVGIQVTPEDDDCLSTSSRGI
CPKQEHIADKLLHWRGLSSPRSAHGALIPTPGMSAEYAPQGICKDEPSSYTCTTCKQPFT
SAWFLLQHAQNTHGLRIYLESEHGSPLTPRVGIPSGLGAECPSQPPLHGIHIADNNPFNL
LRIPGSVSREASGLAEGRFPPTPPLFSPPPRHHLDPHRIERLGAEEMALATHHPSAFDRV
LRLNPMAMEPPAMDFSRRLRELAGNTSSPPLSPGRPSPMQRLLQPFQPGSKPPFLATPPL
PPLQSAPPPSQPPVKSKSCEFCGKTFKFQSNLVVHRRSHTGEKPYKCNLCDHACTQASKL
KRHMKTHMHKSSPMTVKSDDGLSTASSPEPGTSDLVGSASSALKSVVAKFKSENDPNLIP
ENGDEEEEEDDEEEEEEEEEEEEELTESERVDYGFGLSLEAARHHENSSRGAVVGVGDES
RALPDVMQGMVLSSMQHFSEAFHQVLGEKHKRGHLAEAEGHRDTCDEDSVAGESDRIDDG
TVNGRGCSPGESASGGLSKKLLLGSPSSLSPFSKRIKLEKEFDLPPAAMPNTENVYSQWL
AGYAASRQLKDPFLSFGDSRQSPFASSSEHSSENGSLRFSTPPGELDGGISGRSGTGSGG
STPHISGPGPGRPSSKEGRRSDTCEYCGKVFKNCSNLTVHRRSHTGERPYKCELCNYACA
QSSKLTRHMKTHGQVGKDVYKCEICKMPFSVYSTLEKHMKKWHSDRVLNNDIKTE

Sequence length

835

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Attention Deficit Hyperactivity Disorder	Attention deficit hyperactivity disorder	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Ovarian cancer	Epithelial ovarian cancer	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	37372998
Alcoholism	Associate	28981154
alpha Thalassemia	Associate	19696200
Alzheimer Disease	Associate	30180184
Anemia Hemolytic	Associate	29879141
Anemia Sickle Cell	Associate	18245381, 18667698, 21068433, 22139998, 22801970, 24667352, 25084696, 25703683, 26393293, 26849705, 26888013, 27077760, 27377501, 27838552, 28280727 View all (16 more)
Apraxias	Associate	27120335, 28960836
Arthritis Rheumatoid	Associate	24213554
Autism Spectrum Disorder	Associate	25938782
Autistic Disorder	Associate	30755392, 36807877
beta Thalassemia	Associate	18245381, 21068433, 21385855, 21791466, 22271886, 22801970, 25842369, 27009595, 27377501, 29186860, 29606353, 30768627, 31115947, 34091621, 34398996 View all (5 more)
Brain Damage Chronic	Associate	36807877
Breast Neoplasms	Associate	29263092, 29975921, 32576660, 35617355, 37684436
Burkitt Lymphoma	Associate	15241441
Calcinosis Cutis	Associate	32576660
Carcinogenesis	Associate	29975921, 37548553
Carcinoma Medullary	Associate	36030436
Carcinoma Non Small Cell Lung	Associate	30779076, 37372998
Carcinoma Squamous Cell	Associate	37372998
Central Nervous System Vascular Malformations	Associate	36807877
Death	Associate	28445112
Developmental Disabilities	Associate	25938782, 30250039, 30755392, 34634037
Diabetes Mellitus	Associate	19833888, 21296741
Diabetes Mellitus Type 2	Associate	18714373, 19833888, 21296741, 21445555, 22113416, 22825589, 25273842, 26290879, 26599349
Disease	Associate	33990643, 40665149
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	25585695
Episodic Ataxia	Associate	39209956
Fetal Alcohol Spectrum Disorders	Associate	26019277
Fetal Diseases	Associate	38339995
GATA2 Deficiency	Associate	35504960
Genetic Diseases Inborn	Associate	30122582
Glaucoma Open Angle	Associate	35872944
Glycogen Storage Disease 0 Muscle	Associate	26771086
Growth Disorders	Associate	27377501
Hematologic Neoplasms	Associate	34714913
Hemoglobin C Disease	Associate	18245381, 29437638, 33091040
Hemoglobinopathies	Associate	26603726, 26840243, 32576837, 33938942
Hemolysis	Associate	32563256
Hodgkin Disease	Associate	11830502, 19096012
Immune System Diseases	Associate	30755392
Insulin Resistance	Associate	18714373
Intellectual Disability	Associate	30122582, 30250039, 30362171
Language Disorders	Associate	30250039
Leukemia Lymphocytic Chronic B Cell	Associate	17053054, 18752589, 23432949
Leukemia Myeloid	Associate	34714913
Leukemia Myeloid Acute	Associate	34714913
Lupus Erythematosus Systemic	Associate	24213554
Lymphatic Metastasis	Associate	28225775
Lymphoma B Cell	Associate	18367492, 24961604
Lymphoma Large B Cell Diffuse	Associate	12406872, 16734728, 24832791
Mental Retardation Autosomal Recessive 7	Associate	33938942
Mollica Pavone Antener syndrome	Associate	25938782
Muscle Hypotonia	Associate	28960836
Neoplasm Metastasis	Associate	28474731, 32576660, 35909289
Neoplasms	Associate	22675500, 28474731, 30755392, 32152520, 32576660, 34714913, 35504960, 37372998, 39272221, 40328966
Nervous System Diseases	Associate	26019277
Neuroblastoma	Associate	35909289
Obesity Abdominal	Inhibit	26599349
Obesity Metabolically Benign	Associate	28303002
Pain	Associate	18667698, 34283174
Pancreatic Neoplasms	Associate	21445555, 35571561
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20578197
Prostatic Neoplasms	Associate	33279858
Pyruvate Carboxylase Deficiency Disease	Associate	35872944
Schizophrenia	Associate	25938782
Speech Disorders	Associate	30362171
Spinocerebellar Ataxia 11	Associate	24667352
Squamous Cell Carcinoma of Head and Neck	Associate	28225775
Stroke	Associate	26888013
Thalassemia	Associate	33990643, 40665149
Thalassemia	Inhibit	40448206
Transfusion Reaction	Associate	35267028
Triple Negative Breast Neoplasms	Associate	28474731, 29263092, 29975921, 31649243, 32576660, 36030436, 37548553, 40328966
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	32563256
Williams Syndrome	Associate	30362171

BCL11A (BCL11 transcription factor A)