Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 Biomarker disease BEFREE Pathological examinations revealed an ACC of cecum and small bowel (ileum) showing positive staining with CD117, CK7, and panCK. 29237982 2018
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 Biomarker disease BEFREE Over 90% of all ACCs were grade 1 or 2 and exhibited diffuse (>50%) positivity with CD117, SOX-10, and smooth muscle actin immunostains. 26076064 2015
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 Biomarker disease BEFREE We retrieved 27 cases of 1-4-cm-sized adenoid cystic carcinomas (ACCs) arising from the PG (n = 12) and SMG (n = 15). c-KIT, VEGF-R2, and CD31 staining were quantified by image-based analysis to define the positive expression or tumor-associated vessel areas in two representative sections per case. 24456477 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 GeneticVariation disease BEFREE We analyzed 33 cases of ACC.Gene mutations in KIT exons 9, 11, 13, and 17 were analyzed using paraffin-embedded tissue, and two different sets of primers with direct sequencing after polymerase chain reaction (PCR) for exon 9, 11, 13, and 17, and cloning of PCR products for exon 11. 22077630 2012
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 GeneticVariation disease BEFREE This analysis revealed that two ACC tumors without KIT mutations had missense mutations in either KRAS or BRAF, causing S17N K-Ras and V590I B-Raf mutants, respectively. 20824047 2010
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 AlteredExpression disease BEFREE Although KIT expression was found frequently in primary pulmonary ACC, a correlation with KIT-activating mutations was not observed. 17932891 2007
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 Biomarker disease BEFREE We studied the efficacy of imatinib mesylate, a potent inhibitor of KIT tyrosine kinase, in patients with KIT-positive metastatic ACC. 16265655 2005
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 Biomarker disease BEFREE Our results implicate that specific KIT tyrosine kinase inhibitors such as imatinib, might be used in future therapeutic approaches against subgroups of ACC. 16054424 2005
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.090 AlteredExpression disease BEFREE In conclusion, KIT protein expression is correlated with tumor grade of salivary ACC. 10530560 1999