Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
0.030 Biomarker phenotype BEFREE Cytogenetic abnormalities that have been described in childhood medulloblastoma include loss of 17p, amplification of MYCC (c-myc), amplification of MYCN (N-myc), and isochromosome 17q. 11958658 2002
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
0.030 GeneticVariation phenotype BEFREE In these primary tumours, cells gained small numbers of additional MYCN genes by two mechanisms: formation of an isochromosome 2p, or an unbalanced translocation involving the short arm of chromosome 2 (with MYCN) and various partner chromosomes. 12434419 2002
CUI: C0242621
Disease: Isochromosomes
Isochromosomes
0.030 AlteredExpression phenotype BEFREE Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines. 7513543 1994