Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 AlteredExpression disease BEFREE Increased expression of BCL11B and its recruited chromatin remodeling factors during highly active antiretroviral therapy synergistically represses the transcription of human immunodeficiency virus type 1 and is associated with residual immune activation. 31828511 2020
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 GeneticVariation disease BEFREE This finding provides strong evidence that the BCL11B p.R3S substitution is causally associated with craniosynostosis and confirms an important role for BCL11B in the maintenance of cranial suture patency. 31067316 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 Biomarker group BEFREE HIV brain latency as measured by CSF BcL11b relates to disrupted brain cellular energy in virally suppressed HIV infection. 30475266 2019
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.010 GeneticVariation disease BEFREE Using whole-genome sequencing, we identified a novel, de novo variant in BCL11B, c.7C>A, encoding an R3S substitution (p.R3S), in a male patient with coronal suture synostosis. 31067316 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.010 GeneticVariation group BEFREE However, the precise role of BCL11B in humans is largely unexplored, except for a single patient with a BCL11B missense mutation, affected by multisystem anomalies and profound immune deficiency. 29985992 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 AlteredExpression disease BEFREE Downregulated miR-17, miR-29c, miR-92a and miR-214 may be related to BCL11B overexpression in T cell acute lymphoblastic leukemia. 29749698 2018
CUI: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn 		0.010 Biomarker disease BEFREE TSPO, ZAP70, CEBPB targeting MAPK14, has-miR-150 targeting BCL11B might affect the pathogenesis of neonatal sepsis. 30497506 2018
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 AlteredExpression disease BEFREE Downregulated miR-17, miR-29c, miR-92a and miR-214 may be related to BCL11B overexpression in T cell acute lymphoblastic leukemia. 29749698 2018
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		0.010 GeneticVariation phenotype BEFREE Our data confirm the significance of the 14q32.2 region as a risk locus for aortic stiffness and an upstream regulator of BCL11B. 30089823 2018
CUI: C3665339
Disease: Bacterial sepsis of newborn
Bacterial sepsis of newborn 		0.010 Biomarker disease BEFREE TSPO, ZAP70, CEBPB targeting MAPK14, has-miR-150 targeting BCL11B might affect the pathogenesis of neonatal sepsis. 30497506 2018
CUI: C0023860
Disease: Listeriosis
Listeriosis 		0.010 Biomarker disease BEFREE Bcl11b-independent CD5<sup>-</sup>NK1.1<sup>+</sup> γδ T cells appeared and contributed to early protection before Bcl11b-dependent CD5<sup>+</sup>NK1.1<sup>-</sup> γδ T cells following Listeria monocytogenes infection, resembling their sequential appearance during development in the thymus. 29091759 2017
CUI: C0024793
Disease: Marek Disease
Marek Disease 		0.010 AlteredExpression disease BEFREE As expected, the effects triggered by BCL11B downregulation were in accordance with that triggered by gga-miR-219b overexpression, suggesting that BCL11B was a stimulative regulator of MD transformation. 28652615 2017
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		0.010 AlteredExpression group BEFREE Previously, we discovered that BCL11B, a key T-cell development regulator, was aberrantly overexpressed in mycosis fungoides, the most common CTCL, as compared with benign inflammatory skin. 28288848 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 GeneticVariation disease BEFREE Decreased transcript and increased promoter methylation levels of BCL11B gene were identified in AS patients compared with healthy controls. 28794504 2017
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		0.010 Biomarker disease BEFREE Next, we identified the physical interaction and shared downstream genes between BCL11B and HDAC1/2 in CTCL lines. 28288848 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE This review explores the rationale for the involvement of a novel protein, B-cell lymphoma/leukaemia 11b (Bcl11b) in ALS. 26563995 2016
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE These results suggest that the ablation of Bcl11b gene expression induced glioma cell senescence. 26096706 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE The 1-LOD confidence interval for this region contains one gene, C14orf177, and the microRNA Mir_320, whereas IBD analyses implicates an additional gene BCL11B, a regulator of brain-derived neurotrophic signaling, a pathway associated with pathogenesis of several neurodegenerative diseases. 26365416 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 GeneticVariation disease BEFREE Of importance, mutations or allelic loss of BCL11B was detected in one-third of human colon cancers. 25827435 2015
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 AlteredExpression disease BEFREE Persistence of latent HIV-1 infection in the CNS was associated with increased levels of chromatin modifiers, including BCL11B. 23486877 2013
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 Biomarker disease BEFREE We demonstrated that keratinocytic ablation of Ctip2 leads to atopic dermatitis (AD)-like skin inflammation, characterized by alopecia, pruritus and scaling, as well as extensive infiltration of immune cells including T lymphocytes, mast cells, and eosinophils. 23284675 2012
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 GeneticVariation group BEFREE Common genetic variation in a locus in the BCL11B gene desert that is thought to harbor 1 or more gene enhancers is associated with higher CFPWV and increased risk for cardiovascular disease. 22068335 2012
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 Biomarker disease BEFREE We demonstrated that keratinocytic ablation of Ctip2 leads to atopic dermatitis (AD)-like skin inflammation, characterized by alopecia, pruritus and scaling, as well as extensive infiltration of immune cells including T lymphocytes, mast cells, and eosinophils. 23284675 2012
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.010 Biomarker disease BEFREE We demonstrated that keratinocytic ablation of Ctip2 leads to atopic dermatitis (AD)-like skin inflammation, characterized by alopecia, pruritus and scaling, as well as extensive infiltration of immune cells including T lymphocytes, mast cells, and eosinophils. 23284675 2012
CUI: C0013595
Disease: Eczema
Eczema 		0.010 Biomarker disease BEFREE We demonstrated that keratinocytic ablation of Ctip2 leads to atopic dermatitis (AD)-like skin inflammation, characterized by alopecia, pruritus and scaling, as well as extensive infiltration of immune cells including T lymphocytes, mast cells, and eosinophils. 23284675 2012