SGSM3, small G protein signaling modulator 3, 27352

N. diseases: 259; N. variants: 17
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 		0.020 GeneticVariation disease BEFREE Together, this study highlights that ganglioglioma is characterized by genetic alterations that activate the MAP kinase pathway, with only a small subset of cases that harbor additional pathogenic alterations such as CDKN2A deletion. 29880043 2018
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		0.020 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