Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Only few recurrent cytogenetic aberrations have been identified in the T-cell NHL and the best known is the ALK gene translocation t(2;5)(p23;q35) in anaplastic large cell lymphoma. 27910030 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Beside the well-known mutations in NSCLC (EGFR, ALK) a number of chromosomal aberrations (KRAS, ROS1, MET) have become relevant. 26358176 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted. 22764207 2012
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE These three cases suggest that different types of cytogenetic aberrations may involve the ALK gene in ALK-positive diffuse large B-cell lymphoma leading to peculiar immunohistochemical staining patterns. 18220322 2008
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE We report a case showing a restricted cytoplasmic staining pattern of ALK and a novel chromosomal abnormality, t(2;22)(p23;q11.2), demonstrated by fluorescence in situ hybridization analysis. 12800156 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE These assays allow the simultaneous detection of the most frequent primary chromosomal aberrations in these neoplasms, such as t(8;14), t(11;14), t(14;18), and t(3;14), and the various rearrangements of the ALK gene, respectively. 12163366 2002
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Anaplastic large cell lymphomas are associated with chromosomal aberrations involving the anaplastic lymphoma kinase (ALK) gene at 2p23 that result in the expression of novel chimeric ALK proteins with transforming properties. 11943732 2002
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE Reports of extrapulmonary IP have identified clonal chromosomal aberrations involving 2p23 in the region of the ALK gene. 11331960 2001
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 Biomarker group BEFREE Immunocytochemical labeling with these antibodies can therefore confirm that an ALK-positive lymphoma expresses NPM-ALK (rather than a variant ALK-fusion protein) and may also provide evidence for chromosomal anomalies involving the NPM gene other than the classical (2;5) translocation. 9885226 1999
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE These in vitro studies have demonstrated that the proliferation is characterized by a unique chromosomal abnormality, the 5q35bp usually associated with a t(2;5) translocation generating a fusion gene NPM/ALK and the subsequent translation of p80 protein. 9561912 1998
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.100 GeneticVariation group BEFREE In summary, we demonstrate that the inv(2)(p23q35), a variant of the t(2;5)(p23;q35), is a recurrent chromosomal abnormality in ALK-positive ALCL, the further characterization of which should provide new insight into the pathogenesis of these lymphomas. 9763551 1998