Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE Altogether, PDGFRA-mutated GISTs display the same chromosomal aberrations as KIT-mutated GISTs, although they have a lower degree of chromosomal instability in line with their generally favorable outcome. 24157063 2014
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE No difference in c-KIT mutation status was observed between cases with inv(16) or t(8;21) alone and cases with additional cytogenetic abnormalities. 23467883 2013
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE Malignant ovarian dysgerminomas represent ~3% of all ovarian cancers in Western countries, resembling testicular seminomas, regarding chromosomal aberrations and c-KIT mutations. 22937135 2012
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE Notably, most pediatric KIT-wild-type GISTs progress to malignancy without acquiring large-scale chromosomal aberrations, which is a phenomenon not reported previously in malignant solid tumors. 17909012 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE KIT mutations are associated with tumor development, and cytogenetic aberrations are associated with tumor progression. 15024716 2004
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE GIST with CD117 (c-kit) mutation and certain cytogenetic abnormalities is associated with malignancy, though a definite relationship between prognosis and molecular alterations remains to be elucidated. 12198577 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE Neither KIT mutation status nor chromosome aberrations correlated with tumor phenotype or clinical behavior in our series. 11786393 2002
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 GeneticVariation group BEFREE Chromosomal aberrations in malignant gastrointestinal stromal tumors: correlation with c-KIT gene mutation. 11454425 2001
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.090 AlteredExpression group BEFREE C-kit receptor expression occurred in 37 of 42 (88%) patients with favorable cytogenetic abnormalities such as t(8;21), t(15;17) or inv(16) which exceeded the expression rate in patients with intermediate risk, poor risk or other abnormalities. 10350335 1999