TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Lymphangioleiomyomatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE Our results illuminate the basis for lymphangioleiomyomatosis growth and demonstrate the therapeutic potential of targeting Syk in this and other settings driven by TSC genetic mutation.<i></i>. 28202529 2017
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease BEFREE Loss of Tsc1 in fibroblasts in mice does not lead to a model of angiomyolipoma or lymphangioleiomyomatosis. 27907099 2016
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE We hypothesized that these cellular mechanisms of OPG may be involved in the growth and proliferation of lymphangioleiomyomatosis (LAM) cells, abnormal smooth muscle-like cells with mutations in one of the tuberous sclerosis complex tumor-suppressor genes (TSC1/TSC2) that cause LAM, a multisystem disease characterized by cystic lung destruction, lymphatic infiltration, and abdominal tumors. 23867796 2013
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE Progressive lung tissue destruction in lymphangioleiomyomatosis (LAM) occurs as a result of excessive proliferation of LAM cells caused by a mutation in one of the tuberous sclerosis complex suppressor genes, TSC1 or TSC2. 23690211 2013
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE LAM is caused by mutations in the tuberous sclerosis complex (TSC) genes. 25780943 2015
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease BEFREE We also found TSC2 LOH in four lymph nodes from a woman with retroperitoneal LAM.No TSC1 LOH was found. 9529362 1998
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 SomaticCausalMutation disease ORPHANET Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges. 17541983 2008
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes TSC1 and TSC2. 11564212 2001
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE We examined all 41 exons of the TSC2 gene and 21 coding exons of the TSC1 gene for mutations in a group of 14 women with both TSC and LAM using single-strand conformation polymorphism analysis. 11208653 2001
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease BEFREE The TSC1/TSC2 protein-related signaling pathways are involved in the pathogenesis and may provide novel therapeutic targets for lymphangioleiomyomatosis and diseases associated with TSC1 / TSC2 dysfunction. 21128782 2010
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease BEFREE Collectively, the results of this study reveal novel LAM biomarkers linked to breast cancer metastasis to lung and to cell stemness, which in turn might guide the assessment of additional or complementary therapeutic opportunities for LAM. 26167915 2015
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE Lymphangioleiomyomatosis (LAM), a destructive lung disease that affects primarily women, is caused by loss-of-function mutations in TSC1 or TSC2, leading to hyperactivation of mechanistic/mammalian target of rapamycin complex 1 (mTORC1). 31299246 2019
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease BEFREE It is suggested that MMPH, in addition to LAM, could be another pulmonary lesion in TSC patients and that the detection of TSC2 and/or TSC1 gene could essentially be useful for the pathogenesis of MMPH and LAM in TSC patients. 11406664 2001
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE Angiomyolipoma and LAM are caused by loss of function of either the tuberous sclerosis-1 or -2 genes resulting in activation of p70S6kinase (S6K1) and uncontrolled cellular proliferation. 18988705 2009
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE Pulmonary lymphangioleiomyomatosis (LAM) is a slow-progressing metastatic disease that is driven by mutations in the tumor suppressor tuberous sclerosis complex 1/2 (TSC1/2). 30095976 2018
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 GeneticVariation disease BEFREE However, our study indicates that a fraction of sporadic LAM can be a TSC1 disease; therefore, both TSC genes should be examined, even for patients with sporadic LAM. 11829138 2002
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease BEFREE In this review, we will summarize the progress made in our understanding of TSC1/TSC2 cellular signaling and the molecular mechanisms of LAM; we will also highlight some of the lesser explored directions and challenges in LAM research. 17541983 2008
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease BEFREE Endostatin levels were associated with DLCO and were higher in subjects with TSC-associated LAM compared to sporadic LAM. 30922357 2019
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 Biomarker disease CTD_human