Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1
Gene Symbol: A1BG
A1BG
0.010 GeneticVariation disease BEFREE GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite current recommendations proposing both treatment options. mTOR inhibitors are also becoming common treatments in rAML and LAM patients. 31708865 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.020 Biomarker disease BEFREE Angiotensin-converting enzyme inhibitors may slow decline of pulmonary function in patients with lymphangioleiomyomatosis not treated with sirolimus. 30843885 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.020 Biomarker disease BEFREE Angiotensin I-converting enzyme and chymase-producing mast cells were present within the LAM nodules. 16474096 2006
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.040 AlteredExpression disease BEFREE CA-125 and α-smooth muscle actin were co-expressed in LAM lung nodules. 28576630 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.040 Biomarker disease BEFREE Lymphangioleiomyomatosis cells coexpress smooth muscle markers (such as smooth muscle actin and desmin) and melanocytic markers (such as HMB-45, Melan-A/MART-1, and microphthalmia transcription factor). 21128782 2010
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.040 Biomarker disease BEFREE Lymphangioleiomyomatosis (LAM) is a diffuse proliferation of α-smooth muscle actin-positive cells associated with cystic destruction of the lung. 30054282 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.040 AlteredExpression disease BEFREE LAM has immunohistochemical expression of both smooth-muscle actin and a monoclonal antibody specific for human melanoma, HMB-45. 11564212 2001
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 Biomarker disease BEFREE Angiotensin II type 1 and type II receptors were identified in LAM cells by immunohistochemistry and immunoblotting of microdissected LAM nodules. 16474096 2006
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
0.010 AlteredExpression disease BEFREE Our study demonstrates that IFNbeta-dependent activation of STATs and p38 MAPK is not sufficient to fully inhibit proliferation of cells with TSC2 dysfunction and that TSC2-dependent inhibition of mTOR/S6K1 cooperates with IFNbeta in inhibiting human LAM and TSC2-null ELT3 cell proliferation. 18094073 2008
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
0.010 AlteredExpression disease BEFREE Our study demonstrates that IFNbeta-dependent activation of STATs and p38 MAPK is not sufficient to fully inhibit proliferation of cells with TSC2 dysfunction and that TSC2-dependent inhibition of mTOR/S6K1 cooperates with IFNbeta in inhibiting human LAM and TSC2-null ELT3 cell proliferation. 18094073 2008
Entrez Id: 216
Gene Symbol: ALDH1A1
ALDH1A1
0.010 Biomarker disease BEFREE Moreover, assessment of breast cancer stem or luminal progenitor cell biomarkers showed positivity in most LAM tissue for the aldehyde dehydrogenase 1 (ALDH1), integrin-ß3 (ITGB3/CD61), and/or the sex-determining region Y-box 9 (SOX9) proteins. 26167915 2015
Entrez Id: 309
Gene Symbol: ANXA6
ANXA6
0.010 PosttranslationalModification disease BEFREE Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). 12045200 2002
Entrez Id: 682
Gene Symbol: BSG
BSG
0.010 AlteredExpression disease BEFREE Increased levels of extracellular matrix metalloproteinase inducer colocalized with increased matrix metalloproteinases in lymphangioleiomyomatosis cells indicate that it potentially functions in pulmonary lymphangioleiomyomatosis. 20236683 2010
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
0.010 Biomarker disease BEFREE These observations are consistent with the notion that chemokines such as CCL2 may serve to determine mobility and specify the site of metastasis of the LAM cell. 19155472 2009
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.010 AlteredExpression disease BEFREE Using immunohistochemistry and single-cell flow cytometry, we found increased PD-L1 expression both in human lung tissue from patients with LAM and in Tsc2-null lesions in a murine model of LAM. 30095976 2018
Entrez Id: 960
Gene Symbol: CD44
CD44
0.010 GeneticVariation disease LHGDN TSC2 loss in lymphangioleiomyomatosis cells correlated with expression of CD44v6, a molecular determinant of metastasis. 17975002 2007
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
0.010 AlteredExpression disease BEFREE Endostatin levels were associated with DLCO and were higher in subjects with TSC-associated LAM compared to sporadic LAM. 30922357 2019
Entrez Id: 260431
Gene Symbol: COPD
COPD
0.010 Biomarker disease BEFREE Number was significantly correlated with extent in COPD (P < 0.001), but was not so in LAM and BHDS when extent exceeded 11.5% and 20.8%, respectively. 29220357 2017
Entrez Id: 1374
Gene Symbol: CPT1A
CPT1A
0.010 Biomarker disease BEFREE Immunohistochemical analysis of p-S6 (mTORC1 downstream protein), Rictor (mTORC2 scaffold protein) as well as GLUT1, GAPDH, ATPB, GLS, MCT1, ACSS2 and CPT1A (metabolic pathway markers) were performed on lung tissue from 11 patients with sporadic LAM. 29885404 2018
Entrez Id: 1398
Gene Symbol: CRK
CRK
0.010 AlteredExpression disease BEFREE Our study demonstrates that IFNbeta-dependent activation of STATs and p38 MAPK is not sufficient to fully inhibit proliferation of cells with TSC2 dysfunction and that TSC2-dependent inhibition of mTOR/S6K1 cooperates with IFNbeta in inhibiting human LAM and TSC2-null ELT3 cell proliferation. 18094073 2008
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
0.010 Biomarker disease BEFREE Treatment of animal models of TSC and LAM with anti-PD-1 antibodies or with the combination of anti-PD-1 and anti-CTLA4 antibodies has led to remarkable results, suppressing TSC2-null tumor growth and inducing tumor rejection. 31437431 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.020 Biomarker disease BEFREE Examination of LAM tissues shows the expression of cleaved β-catenin products and MMP7 consistent with a model that tuberin-deficient cells acquire invasive properties through a β-catenin-dependent mechanism, which may underlie the development of LAM. 20042714 2010
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.020 AlteredExpression disease BEFREE Here, we show that beta-catenin and its effectors, cyclin D1 and connexin 43, were up-regulated in TSC-related angiomyolipomas and lymphangioleiomyomatosis. 15972957 2005
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
0.010 AlteredExpression disease BEFREE Our findings suggest that cathepsin K activity is dependent on LAM cell-fibroblast interactions, and inhibitors of extracellular acidification may be potential therapies for LAM. 28623674 2017
Entrez Id: 6374
Gene Symbol: CXCL5
CXCL5
0.010 AlteredExpression disease BEFREE Quantification of 25 chemokines in bronchoalveolar lavage fluid from LAM patients and healthy volunteers revealed that concentrations of CCL2, CXCL1, and CXCL5 were significantly higher in samples from LAM patients than those from healthy volunteers. 19155472 2009