DERL1, derlin 1, 79139

N. diseases: 85; N. variants: 0
Disease: Thrombocythemia, Essential ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.030 GeneticVariation disease BEFREE A t(1;9)(p10;q10) in addition to two extra der(1;9)(q10;p10) chromosomes was observed in two patients of essential thrombocythemia that transformed to acute myelogenous leukemia or to myelofibrosis. 21376394 2011
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.030 GeneticVariation disease BEFREE We herein report the first case in the literature, to our knowledge, of a 44-year-old female with essential thrombocythemia and severe myelofibrosis who developed acute myeloid leukemia (AML-M4) with der(1;15)(q10;q10) after 13 years of treatment. 20513531 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.030 GeneticVariation disease BEFREE De novo appearance of der(1;7)(q10;p10) is associated with leukemic transformation and unfavorable prognosis in essential thrombocythemia. 16164981 2005