RTL1, retrotransposon Gag like 1, 388015

N. diseases: 119; N. variants: 2
Disease: Isochromosomes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.020 Biomarker phenotype BEFREE The breakpoint producing mar1 is within the centromere and the one producing mar2 is within one of the short arms of the Y isochromosome. 8737651 1996
CUI: C0242621
Disease: Isochromosomes
Isochromosomes 		0.020 GeneticVariation phenotype BEFREE Cytogenetic analysis in a patient with erythroleukaemia revealed a hypodiploid cellular clone with several acquired karyotypic aberrations including an isochromosome for the long arm of chromosome 21 : 45,XY,-5,-7,-18,-19,-21, + 17, + i (21q)(qter leads to cen leads to qter), + mar1, + mar2. 6607706 1983