| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.030 | GeneticVariation | disease | BEFREE | Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia. | 15339695 | 2004 | ||||
|
0.030 | GeneticVariation | disease | BEFREE | Fluorescence in situ hybridization analysis using a probe specific for the AML1 gene showed four distinct signals in 82.4% and three signals in 10.8% of interphase nuclei, although conventional G-banding revealed tetrasomy 21 alone in mosaicism with normal karyotype. | 11996798 | 2002 | ||||
|
0.030 | Biomarker | disease | BEFREE | Thirty-seven of the patients (33%) had 1-to-2 extra copies of AML1, most probably reflecting the incidence of trisomy 21 and tetrasomy 21. | 10756360 | 2000 | ||||
|
0.010 | AlteredExpression | disease | BEFREE | STYK1/NOK mRNA was highly expressed in the patients with trisomy/tetrasomy 21. mRNA expression began to decrease after chemotherapy with various drugs; this resulted in a decrease in the number of leukemic blasts in the patients' peripheral blood samples. | 19409952 | 2009 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Tetrasomy 21 as a sole acquired abnormality without GATA1 gene mutation in pediatric acute megakaryoblastic leukemia: a case report and review of the literature. | 18372039 | 2008 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Other abnormalities included TEL deletion, trisomy and tetrasomy 21 as well as double TEL-AML1 fusion. | 15877731 | 2005 | ||||
|
0.010 | Biomarker | disease | BEFREE | One case had relapse with gradual increase in percentage of cells positive for t(12;21) and development of an isochromosome 21 carrying the fusion signals. | 11129441 | 2000 | ||||
|
0.010 | Biomarker | disease | BEFREE | We report an unusual hyperdiploid karyotype characterized by the simultaneous occurrence of tetrasomy 21 and trisomy 8 detected during early blastic evolution of a BCR-ABL-negative chronic myeloproliferative disorder. | 7668224 | 1995 |