PLCG1, phospholipase C gamma 1, 5335

N. diseases: 116; N. variants: 7
Disease: Hemangiosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.550 GeneticVariation disease BEFREE In one case, we identified a mutation in PLCG1 identical to a mutation observed previously in this gene in human visceral AS. 29190660 2017
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.550 GeneticVariation disease BEFREE The genetic bases of these tumors have been partially revealed in recent studies reporting genetic alterations such as amplifications of MYC (primarily in radiation-associated angiosarcomas), inactivating mutations in PTPRB and R707Q hotspot mutations of PLCG1. 26440310 2015
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.550 GeneticVariation disease BEFREE A recurrent activating PLCG1 mutation in cardiac angiosarcomas increases apoptosis resistance and invasiveness of endothelial cells. 25252913 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.550 Biomarker disease CTD_human Recurrent PTPRB and PLCG1 mutations in angiosarcoma. 24633157 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.550 GeneticVariation disease BEFREE Recurrent PTPRB and PLCG1 mutations in angiosarcoma. 24633157 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.550 GeneticVariation disease BEFREE Recurrent mutations in PTPRB and PLCG1 were identified in angiosarcomas. 24795022 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		0.550 CausalMutation disease CGI