Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9402
Gene Symbol: GRAP2
GRAP2
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: 25897
Gene Symbol: RNF19A
RNF19A
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: 3447
Gene Symbol: IFNA13
IFNA13
0.010 Biomarker disease BEFREE Baseline median [interquartile range (IQR)] HBsAg levels in all patients were 3286 (1602-7458) IU/ml, not different between IFN- and LAM-treated (P = 0.139). 17503750 2007
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: 3439
Gene Symbol: IFNA1
IFNA1
0.010 Biomarker disease BEFREE Baseline median [interquartile range (IQR)] HBsAg levels in all patients were 3286 (1602-7458) IU/ml, not different between IFN- and LAM-treated (P = 0.139). 17503750 2007
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
0.010 Biomarker disease BEFREE These results suggest that HMGA2 plays a central role in the pathogenesis of LAM and is a potential candidate as a therapeutic target. 17332316 2007
Entrez Id: 10630
Gene Symbol: PDPN
PDPN
0.010 AlteredExpression disease LHGDN D2-40 labeling in lymphangiomyoma/lymphangiomyomatosis of the soft tissue: further evidence of lymphangiogenic tumor histogenesis. 17377811 2007
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
0.010 Biomarker disease BEFREE Plasma from LAM patients contained higher concentrations of osteopontin than plasma of healthy, age-, and sex-matched volunteers (P = 0.00003) and may be a biomarker for LAM. 17975002 2007
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
0.010 Biomarker disease LHGDN These results suggest that HMGA2 plays a central role in the pathogenesis of LAM and is a potential candidate as a therapeutic target. 17332316 2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.010 Biomarker disease BEFREE The resemblance of Drosophila lam phenotypes to human laminopathies suggests that some lamin functions may be performed by differently expressed genes in flies and mammals. 17565385 2007
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: 2697
Gene Symbol: GJA1
GJA1
0.010 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: 5340
Gene Symbol: PLG
PLG
0.010 AlteredExpression disease BEFREE Microdissection-based reverse transcriptase/polymerase chain reaction further confirmed upregulation of uPA and Plg and downregulation of PAI-1 message in LAM. 15514113 2005
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
0.010 AlteredExpression disease BEFREE Microdissection-based reverse transcriptase/polymerase chain reaction further confirmed upregulation of uPA and Plg and downregulation of PAI-1 message in LAM. 15514113 2005
Entrez Id: 4921
Gene Symbol: DDR2
DDR2
0.010 AlteredExpression disease BEFREE To test the hypothesis that DDR may be involved in ECM remodeling by SMCs in vivo, we analyzed DDR expression by reverse transcriptase-polymerase chain reaction and immunohistochemistry and demonstrate that both DDR1 and DDR2 are up-regulated in nodules of LAM as compared to normal controls, and are expressed in lesions of atherosclerosis. 15111304 2004
Entrez Id: 780
Gene Symbol: DDR1
DDR1
0.010 AlteredExpression disease BEFREE To test the hypothesis that DDR may be involved in ECM remodeling by SMCs in vivo, we analyzed DDR expression by reverse transcriptase-polymerase chain reaction and immunohistochemistry and demonstrate that both DDR1 and DDR2 are up-regulated in nodules of LAM as compared to normal controls, and are expressed in lesions of atherosclerosis. 15111304 2004
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
0.010 AlteredExpression disease BEFREE Using laser microdissection, we extend our studies to the analysis of SMCs from LAM nodules where we observe higher MMP1 expression and MMP2 activation. 15111304 2004
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
0.010 Biomarker disease BEFREE High SRF level upregulated the expression of matrix metalloproteinase (MMP)-2 and MMP-14, two MMPs previously shown to be increased in LAM. 12654640 2003
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3
0.010 Biomarker disease BEFREE Because timp-3-null mice develop spontaneous emphysema, our findings suggest that SRF-mediated TIMP-3 inhibition might contribute to the tissue damage seen in LAM. 12654640 2003
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3
0.010 AlteredExpression disease LHGDN In eight of them, TIMP-3 was ubiquitously present in normal lung parenchyma, but it was absent in LAM lesions. 12654640 2003
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: 6194
Gene Symbol: RPS6
RPS6
0.010 AlteredExpression disease BEFREE These data demonstrate that tuberin negatively regulates the activity of S6 and p70S6K specifically, and suggest a potential mechanism for abnormal cell growth in LAM. 12045200 2002
Entrez Id: 84959
Gene Symbol: UBASH3B
UBASH3B
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: 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: 5972
Gene Symbol: REN
REN
0.020 Biomarker disease BEFREE A local renin-angiotensin system exists in the pulmonary nodules of lymphangioleiomyomatosis patients. 30843885 2019