PRKCA, protein kinase C alpha, 5578

N. diseases: 368; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2985174
Disease: Papillary glioneuronal tumor
Papillary glioneuronal tumor
0.040 Biomarker disease BEFREE We did not retrieve the SLC44A1-PRKCA fusion gene specific for papillary glioneuronal tumor, but an EWSR1-PATZ1 fusion transcript. 29679497 2019
CUI: C2985174
Disease: Papillary glioneuronal tumor
Papillary glioneuronal tumor
0.040 Biomarker disease BEFREE RNA sequencing for the detection of SLC44A1-PRKCA fusions could be performed on 19 of the tumors, 10 of them belonging to the methylation class PGNT. 30759284 2019
CUI: C2985174
Disease: Papillary glioneuronal tumor
Papillary glioneuronal tumor
0.040 GeneticVariation disease BEFREE None of PGNT mimics showed the SLC44A1-PRKCA fusion signal pattern. 26671581 2015
CUI: C2985174
Disease: Papillary glioneuronal tumor
Papillary glioneuronal tumor
0.040 GeneticVariation disease BEFREE These results suggest that the t(9;17)(q31;q24) with the resultant novel fusion oncogene SLC44A1-PRKCA is the defining molecular feature of PGNT that may be responsible for its pathogenesis. 22725730 2013