PLCG1, phospholipase C gamma 1, 5335

N. diseases: 116; N. variants: 7
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 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 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 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: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.350 GeneticVariation disease BEFREE This study functionally interrogated nine PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H, and the in-frame indel p.VYEEDM1161V) identified in Sézary Syndrome, the leukemic variant of CTCL. 31376383 2020
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.350 GeneticVariation disease BEFREE This new study finds that only 3-5% of the CTCL tumor genomes (mycosis fungoides and Sézary syndrome) harbor PLCG1 mutations. 26269406 2015
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.350 Biomarker disease BEFREE Subsequently, 13 hub genes including CFLAR, GCNT2, IFNG, IL17A, IL22, MIP, PLCG1, PTH, PTPN6, REG1A, SNAP25, SUPT7L, and TP63 were shown to be related to cutaneous T-cell lymphoma (CTCL) and adult T-cell lymphoma/leukemia (ATLL).In summary, in addition to the reported genes (IL17F, PLCG1, IFNG, and PTH) in CTCL/ATLL, the other high instable genes may serve as novel biomarkers for the regulation of the biological processes and molecular mechanisms of CTLT (MF/SS). 29794791 2018
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.350 AlteredExpression disease BEFREE Recent evidence suggests that disturbances in specific intracellular signalling pathways, such as RAS-mitogen-activated protein kinase, T-cell receptor (TCR)-phospholipase C gamma 1 (PLCG1)-nuclear factor of activated T cells (NFAT) and Janus kinase (JAK)-signal transducer and activator of transcription (STAT), may play an essential role in the pathogenesis of CTCL. 31049933 2020
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.350 GeneticVariation disease BEFREE Thus, increased proliferative and survival mechanisms in CTCL may partially depend on the acquisition of somatic mutations in PLCG1 and other genes that are essential for normal T-cell differentiation. 24497536 2014
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome
0.320 GeneticVariation disease BEFREE This study functionally interrogated nine PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H, and the in-frame indel p.VYEEDM1161V) identified in Sézary Syndrome, the leukemic variant of CTCL. 31376383 2020
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome
0.320 GeneticVariation disease BEFREE Mutations in PLCG1 were detected in 11% of tumors including novel variants not previously described in SS. 27121473 2016
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.310 Biomarker disease BEFREE The phospholipase C-gamma1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism. 11409699 2001
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia
0.310 Biomarker disease BEFREE Subsequently, 13 hub genes including CFLAR, GCNT2, IFNG, IL17A, IL22, MIP, PLCG1, PTH, PTPN6, REG1A, SNAP25, SUPT7L, and TP63 were shown to be related to cutaneous T-cell lymphoma (CTCL) and adult T-cell lymphoma/leukemia (ATLL).In summary, in addition to the reported genes (IL17F, PLCG1, IFNG, and PTH) in CTCL/ATLL, the other high instable genes may serve as novel biomarkers for the regulation of the biological processes and molecular mechanisms of CTLT (MF/SS). 29794791 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.160 Biomarker group BEFREE Phospholipase Cγ1 links inflammation and tumorigenesis in colitis-associated cancer. 29464031 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.160 Biomarker group BEFREE The enzyme phospholipase C gamma 1 (PLCγ1) has been identified as a potential drug target of interest for various pathological conditions such as immune disorders, systemic lupus erythematosus, and cancers. 31548507 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.160 Biomarker group BEFREE Taken together, our data suggest that (i) UCP2 is an important regulator of mitochondrial redox status and lipid signaling; (ii) hydrogen peroxide might mediate UCP2's tumor promoting activity; and (iii) pharmacological disruption of PLCγ-1 and/or hydrogen peroxide may have clinical utility for UCP2 overexpressed cancers. 28574619 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.160 Biomarker group BEFREE We further show that this novel PDK1-PLCγ1 pathway is important for cancer cell invasion. 22454520 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.160 Biomarker group BEFREE PLCγ1 activities play an important role in the metastasis of gastric adenocarcinoma, and may serve as a potential therapeutic target in this type of cancer. 25308733 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.160 GeneticVariation group BEFREE Furthermore, in tandem SH2 and γSA constructs, molecular dynamics and NMR results show that the Arg687Trp mutant in PLCγ1 (equivalent to the cancer mutation Arg665Trp in PLCγ2) perturbs the dynamic allosteric pathway. 29972810 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Increased PLCG1 expression in tumor tissues was remarkably correlated with poor clinical features of HCC. 30623526 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE In addition, analysis of 60 breast cancer patients' tissues revealed an increase of PLCgamma1 expression in metastasis compared with the primary tumor in 50% of tissues analyzed. 19074886 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Furthermore, the Akt/Bad, Akt/S6, and ERK/Bad signal axes were involved in PLCγ1-mediated tumor growth and metastasis of human gastric adenocarcinoma. 26811493 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Taken together, our study provides a mechanistic basis for the role for the PLCγ1-PKCγ pathway in regulating Hsp90α plasma membrane translocation, which facilitates tumor cell motility and promotes tumor metastasis. 24899266 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE We also propose a novel mechanism by which the tumor microenvironment could contribute to T cell dysfunction and shorter survival, i.e., diminished expression levels of essential signaling proteins, including STAT5B, PLCγ1 and NFATc2. 29721385 2018