DERL1, derlin 1, 79139

N. diseases: 85; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.040 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.040 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.040 GeneticVariation disease BEFREE An adolescent with chronic myeloid leukemia initially presented with extreme thrombocytosis, increased megakaryopoiesis with dysmorphic features, and focal myelofibrosis in bone marrow examinations and then developed isolated myelosarcoma 1 year after onset, with t(9;22)(q34;q11.2), +8, +14, +21, and der(1)(p36). 18328950 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.040 GeneticVariation disease BEFREE A 47-year-old female with idiopathic myelofibrosis developed isolated granulocytic sarcoma with der (1; 7)(q10; p10) after splenectomy, followed by acute myelogenous leukemia. 11342325 2000