Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 GeneticVariation disease UNIPROT BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. 29985992 2018
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 Biomarker disease GENOMICS_ENGLAND Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. 27959755 2016
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 GeneticVariation disease UNIPROT Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. 27959755 2016
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 CausalMutation disease CLINVAR
CUI: C4310656
Disease: IMMUNODEFICIENCY 49
IMMUNODEFICIENCY 49 		0.700 Biomarker disease CTD_human
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 GeneticVariation disease BEFREE This proposed diagnostic group is supported by (i) retained myeloid differentiation potential during early T cell lymphoid development, (ii) recognition that some cases of acute myeloid leukaemia (AML) harbour hallmarks of T cell development, such as T-cell receptor gene rearrangements and (iii) common gene mutations in subsets of AML and T cell acute lymphoblastic leukaemia (T-ALL), including WT1, PHF6, RUNX1 and BCL11B. 29441563 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. 29985992 2018
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.400 Biomarker disease GENOMICS_ENGLAND BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. 29985992 2018
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 Biomarker disease BEFREE Our studies show BCL11B is a key regulator of the initial stages of human T-cell differentiation and delineate the BCL11B transcriptional program, enabling the dissection of the underpinnings of normal T-cell differentiation and providing a resource for understanding dysregulations in T-ALL. 28232744 2017
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 Biomarker disease BEFREE B cell CLL/lymphoma 11B (Bcl11b), a C2H2 zinc finger transcription factor, not only serves as a critical regulator in development but also plays the controversial role in T cell acute lymphoblastic leukemia (T-ALL). 26096706 2016
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 GeneticVariation disease BEFREE Yet, none of these T-ALLs had a clonal chromosome t(12;14) translocation that deleted Bcl11b indicating that Tcrδ translocations that inactivate a copy of Bcl11b promote transformation of Atm-deficient thymocytes. 25486566 2014
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 AlteredExpression disease BEFREE Within the standard risk group of thymic T-ALL (n = 102), low BCL11b expression identified patients with an unexpected poor outcome compared to those with high expression (5-year OS: 20%, n = 18 versus 62%, n = 84, P < 0.01). 25023966 2014
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 GeneticVariation disease BEFREE On the other hand, Bcl11b is a haploinsufficient tumor suppressor and loss of a Bcl11b allele provides susceptibility to mouse thymic lymphoma and human T-cell acute lymphoblastic leukemia. 22450536 2012
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 Biomarker disease BEFREE Downregulation of the B-cell chronic lymphocytic leukemia (CLL)/lymphoma11B (BCL11B) gene by small interfering RNA (siRNA) leads to growth inhibition and apoptosis of the human T-cell acute lymphoblastic leukemia (T-ALL) cell line Molt-4. 21575156 2011
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 Biomarker disease BEFREE Our findings provide compelling evidence that BCL11B is a haploinsufficient tumor suppressor that collaborates with all major T-ALL oncogenic lesions in human thymocyte transformation. 21878675 2011
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 AlteredExpression disease BEFREE When highly efficient and specific BCL11B-935-siRNA was used to analyze the inhibition of BCL11B mRNA level in primary T-cell acute lymphoblastic leukemia (T-ALL) cells, similar result was obtained. 21756541 2011
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 Biomarker disease CTD_human Here we show that transgenic expression of human TLX1 in mice induces T-ALL with frequent deletions and mutations in Bcl11b (encoding B cell leukemia/lymphoma-11B) and identify the presence of recurrent mutations and deletions in BCL11B in 16% of human T-ALLs. 20972433 2010
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 GeneticVariation disease BEFREE The expression levels of the above mentioned genes and their correlation with the BCL11B gene were analyzed in patients with T-ALL using the TaqMan and SYBR Green I real-time polymerase chain reaction technique. 21080944 2010
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 GeneticVariation disease BEFREE In T-cell acute lymphoblastic leukemia (T-ALL) the cardiac homeobox gene NKX2-5 (at 5q35) is variously deregulated by regulatory elements coordinating with BCL11B (at 14q32.2), or the T-cell receptor gene TRD (at 14q11.2), respectively. 18079734 2008
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 GeneticVariation disease BEFREE Activation of TLX3 and NKX2-5 in t(5;14)(q35;q32) T-cell acute lymphoblastic leukemia by remote 3'-BCL11B enhancers and coregulation by PU.1 and HMGA1. 17308084 2007
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 AlteredExpression disease BEFREE Screening of 37 other T-ALLs revealed one additional case with expression of the BCL11B-TRDC fusion transcript. 15668700 2005
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 GeneticVariation disease BEFREE Cytogenetic analysis of a pediatric T-cell acute lymphoblastic leukemia (ALL) cell line (HPB-ALL) revealed the cryptic t(5;14)(q35;q32.2), recently found in 15-20% pediatric T-ALL patients, with 5q35 and 14q32.2 breakpoints at 5'-HOX11L2 and 3'-BCL11B, respectively. 12661009 2003
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.400 Biomarker disease BEFREE We describe a novel variant t(5;14) whereby NKX2-5, a related (NK-like family) homeobox gene located approximately 2 Mb telomeric of TLX3, juxtaposes BCL11B in a subset of T-cell ALL cell lines. 14500364 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C4748152
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 		0.400 CausalMutation disease CLINVAR