Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 GeneticVariation disease BEFREE Mutations were detected in 3 (21%) of 14 analyzed tumors: (1) c.3200A>T substitution in PIK3CB encoding PI3K 110β subunit, (2) c.1040A>G substitution in tuberous sclerosis complex (TSC2) encoding tuberin, mTOR down-regulator (3) c.6625C>G substitution in mTOR. 28777148 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 GeneticVariation disease BEFREE Key negative regulators of the PI3K-AKT signaling pathway include PTEN and TSC1/TSC2 and germline loss-of function mutations of these genes are established to cause PTEN Hamartoma Tumor Syndrome and Tuberous Sclerosis Complex. 27860216 2016
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 Biomarker disease BEFREE In addition, the phosphoinositide-3-kinase (PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway was strongly inhibited by the combined treatment, showing de-repression of the tuberous sclerosis complex (TSC) and suppression of ras homolog enriched in the brain (Rheb) and mTOR and raptor in aggressive ovarian carcinoma cells and mouse xenograft models. 25153728 2014
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 AlteredExpression disease BEFREE Here, we found that the actin-crosslinking protein filamin A (FLNA) is overexpressed in tuberous sclerosis complex (TSC) mice, a PI3K-mTOR model of neurodevelopmental disease that is associated with abnormal dendritic complexity. 25277454 2014
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 GeneticVariation disease BEFREE Neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) are autosomal-dominant genetic disorders that result from dysregulation of the PI3K/AKT/mammalian target of rapamycin (mTOR) pathway. 22544507 2012
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 Biomarker disease BEFREE Tuberous sclerosis complex (TSC) is a genetic disorder associated with mTOR over-activation and disruption of MAPK, PI3K and AMPK signalling. 21191642 2011
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 Biomarker disease BEFREE Mutations in TSC1/TSC2, NF1, or PTEN activate the mTOR/PI3K pathway and lead to syndromic ASD with tuberous sclerosis, neurofibromatosis, or macrocephaly. 19545994 2009
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 GeneticVariation disease BEFREE In the past few years, three inherited hamartoma syndromes, Cowden syndrome (CS), tuberous sclerosis complex (TSC) syndrome, and Peutz-Jeghens syndrome (PJS), have all been linked to a common biochemical pathway: the hyperactivation of PI3K/mTORC1 intracellular signaling. 19177005 2009
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 Biomarker disease BEFREE It was proposed that abrogation of a newly identified mTOR-mediated negative feedback regulation on extracellular signal-regulated kinase/mitogen-activated protein kinase (ERK/MAPK) signaling pathway and on the well-documented RTK-PI3K-AKT signaling cascade could limit the efficacy of mTOR inhibitors in the treatment of TSC patients. 19539245 2009
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 AlteredExpression disease BEFREE Significantly, DHT stimulation of mTOR was not mediated through activation of the PI3K/Akt or mitogen-activated protein kinase/p90 ribosomal S6 kinase pathways and subsequent tuberous sclerosis complex 2/tuberin inactivation or by suppression of AMP-activated protein kinase. 16885382 2006
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 Biomarker disease BEFREE This finding, together with earlier work, strongly suggests that a major form of negative feedback inhibition of PI3K results from activated growth signalling via mammalian target of rapamycin (mTOR) and the p70 S6 kinase (S6K) - a pathway that could have consequences for the development of type 2 diabetes and tuberous sclerosis complex. 15653324 2005
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.100 Biomarker disease BEFREE The collective data discussed have laid the groundwork for important new insights into the many cancers caused by aberrant PI3K activation and the clinically challenging tuberous sclerosis complex disease and have suggested a possible means of treatment for both. 12773158 2003