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: C0026499
Disease: Monosomy
Monosomy
0.050 GeneticVariation group BEFREE The der(1;7) is associated with profound thrombocytopenia most probably causing the reduced OS which is in striking contrast to the low risk for AML transformation (HR 3.89 for del(7q) vs der(1;7) and 5.88 for monosomy 7 vs der(1;7)). 30994215 2019
CUI: C0026499
Disease: Monosomy
Monosomy
0.050 GeneticVariation group BEFREE In primary MDS, patients with der(1;7)(q10;p10) (n = 13), compared to those with monosomy 7 (n = 30) or 7q- (n = 15), were less likely (P = 0.04) to display excess blasts or multilineage dysplasia but overall and leukemia-free survival adjusted for these variables revealed no significant difference between the three groups (P = 0.57 and 0.81, respectively). 22565657 2012
CUI: C0026499
Disease: Monosomy
Monosomy
0.050 GeneticVariation group BEFREE Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1). 15384094 2004
CUI: C0026499
Disease: Monosomy
Monosomy
0.050 GeneticVariation group BEFREE We report on a case of refractory anemia with trilineage dysplasia and an unbalanced der(1)t(1;10) that resulted in trisomy of the long arm of chromosome 1 (1q) and monosomy of the short arm of chromosome 10 (10p). 11890996 2002
CUI: C0026499
Disease: Monosomy
Monosomy
0.050 GeneticVariation group BEFREE In addition to confirming the FISH results, SKY allowed for a more precise characterization of the karyotype of THP-1 and allowed us to identify other abnormalities in this cell line, including der(1)t(1;12), der(20)t(1;20), deletions 6p, 12p, and 17p, trisomy 8, and monosomy 10. 11066077 2000