Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.320 GeneticVariation disease BEFREE The specific association of ZBTB7A mutations with t(8;21) rearranged AML points towards leukaemogenic cooperativity between mutant ZBTB7A and the RUNX1/RUNX1T1 fusion. 27252013 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.320 GeneticVariation disease BEFREE We identified ASXL2 (34.1%) and ZBTB7A (9.8%) mutations in only AML patients with t(8;21). 30251205 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Mining The Cancer Genome Atlas gastric adenocarcinoma dataset identified a frequent loss of the zinc finger and BTB domain containing 7A (ZBTB7A) gene locus and a significant correlation between low ZBTB7A expression and poor patient survival. 29207095 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Our study uncovers the loss-of-function mutation in ZBTB7A as a novel mechanism causing elevated glycolysis in human cancer, which carries important therapeutic implication. 26455326 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Our study uncovers the loss-of-function mutation in ZBTB7A as a novel mechanism causing elevated glycolysis in human cancer, which carries important therapeutic implication. 26455326 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Mining The Cancer Genome Atlas gastric adenocarcinoma dataset identified a frequent loss of the zinc finger and BTB domain containing 7A (ZBTB7A) gene locus and a significant correlation between low ZBTB7A expression and poor patient survival. 29207095 2018
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.030 GeneticVariation disease BEFREE ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial. 24584352 2014
CUI: C0023418
Disease: leukemia
leukemia
0.020 GeneticVariation disease BEFREE We analyzed 529 CLL samples from the LRF CLL4 (Leukaemia Research Foundation Chronic Lymphocytic Leukemia 4) trial (chlorambucil v fludarabine with or without cyclophosphamide) at the time of random assignment for mutations in the TP53 gene. 21483000 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 GeneticVariation phenotype BEFREE Somatic human ZBTB7A zinc finger mutations promote cancer progression. 26455326 2016
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.020 GeneticVariation disease BEFREE Conversely, this response is bypassed with deletion of either Trp53 or Zbtb7a together with Pten, leading to the development of castration-resistant prostate cancer (CRPC). 23727860 2013
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 GeneticVariation disease BEFREE In this study, we used an RNAi strategy to silence the Pokemon gene in a cervical cancer model. 20879980 2010
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease
0.010 GeneticVariation disease BEFREE First, transcription factors, BCL11A and LRF/ZBTB7A, that mediate silencing of the β-like fetal (γ-) globin gene after birth have been identified and demonstrated to act at the γ-globin promoters, precisely at recognition sequences disrupted in rare individuals with hereditary persistence of fetal hemoglobin. 30355263 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.010 GeneticVariation disease BEFREE We identified ASXL2 (34.1%) and ZBTB7A (9.8%) mutations in only AML patients with t(8;21). 30251205 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
0.010 GeneticVariation disease BEFREE We identified a de novo likely pathogenic heterozygous missense variant of ZBTB7A (NM_015898.3:c.1152C>G, p.(Cys384Trp)) in a Japanese boy with macrocephaly, intellectual disability, and sleep apnea. 31645653 2020
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.010 GeneticVariation disease BEFREE We identified a de novo likely pathogenic heterozygous missense variant of ZBTB7A (NM_015898.3:c.1152C>G, p.(Cys384Trp)) in a Japanese boy with macrocephaly, intellectual disability, and sleep apnea. 31645653 2020
Hereditary persistence of fetal hemoglobin thalassemia
0.010 GeneticVariation disease BEFREE These findings clarify how these HPFH-associated mutations operate and demonstrate that BCL11A and ZBTB7A are major direct repressors of the fetal globin gene. 29610478 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 GeneticVariation disease BEFREE In this study, we used an RNAi strategy to silence the Pokemon gene in a cervical cancer model. 20879980 2010
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 GeneticVariation disease BEFREE In this study, we used an RNAi strategy to silence the Pokemon gene in a cervical cancer model. 20879980 2010