KIAA1549, KIAA1549, 57670

N. diseases: 64; N. variants: 0
Disease: Childhood Ganglioglioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.030 GeneticVariation disease BEFREE Hemorrhage was significantly present in cases of GG with KIAA1549-BRAF fusion, but no relevance was shown in cases with BRAF mutations. 31147232 2019
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.030 GeneticVariation disease BEFREE In the third case, where the interval spanned multiple decades, the GG was found to be positive for both BRAF p.V600E immunohistochemistry (IHC) and for the KIAA1549-BRAF fusion. 31147230 2019
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.030 GeneticVariation disease BEFREE Activation of the MAP Kinase (MAPK) pathway caused by the BRAFV600E mutation or the KIAA1549-BRAF fusion has been reported in pediatric GG and PA, respectively. 25524464 2014