Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.150 Biomarker disease HPO
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
0.130 Biomarker disease HPO
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.210 AlteredExpression disease BEFREE Subependymal giant cell astrocytoma: a clinicopathological study of 23 cases with special emphasis on proliferative markers and expression of p53 and retinoblastoma gene proteins. 15203749 2004
Entrez Id: 983
Gene Symbol: CDK1
CDK1
0.010 AlteredExpression disease BEFREE p34cdc2, collapsin response mediator protein 4 (CRMP4), doublecortin (DCX), HuD, and NeuN expression was assessed in tuber (n = 16) and subependymal giant cell astrocytoma (SEGA; n = 6) specimens in tuberous sclerosis complex to define the developmental phenotype and lineage of giant cells (CGs) in these lesions. 12731003 2003
Entrez Id: 27165
Gene Symbol: GLS2
GLS2
0.010 AlteredExpression disease BEFREE LGA mRNA expression was relatively very low in cultured astrocytes, and very low to absent in astrocytoma pilocyticum, ependymoma and subependymal giant cell astrocytoma (SEGA), tumors of astrocytic origin. 17940881 2008
Entrez Id: 1
Gene Symbol: A1BG
A1BG
0.010 Biomarker 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: 7249
Gene Symbol: TSC2
TSC2
0.130 Biomarker disease BEFREE A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 16237225 2005
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.010 GeneticVariation disease BEFREE A subset of subependymal giant cell astrocytoma-like astrocytomas are alternative lenghtening of telomere-positive and occur in the absence of ATRX alterations, thereby suggesting mutations in other DNA repair/maintenance genes may also facilitate alternative lenghtening of telomeres. 29973652 2018
Entrez Id: 3082
Gene Symbol: HGF
HGF
0.310 Biomarker disease CTD_human Agonists of the retinoic acid- and retinoid X-receptors inhibit hepatocyte growth factor secretion and expression in U87 human astrocytoma cells. 11223164 2001
Entrez Id: 4233
Gene Symbol: MET
MET
0.300 Biomarker disease CTD_human Agonists of the retinoic acid- and retinoid X-receptors inhibit hepatocyte growth factor secretion and expression in U87 human astrocytoma cells. 11223164 2001
Entrez Id: 4763
Gene Symbol: NF1
NF1
0.300 Biomarker disease CTD_human Bioluminescent approaches for measuring tumor growth in a mouse model of neurofibromatosis. 20176786 2010
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.210 Biomarker disease CTD_mouse Bioluminescent approaches for measuring tumor growth in a mouse model of neurofibromatosis. 20176786 2010
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.090 Biomarker disease BEFREE Compared with the placebo, mTOR inhibitors significantly reduced tumor volume in both angiomyolipoma (AML) (RR = 24.69, 95% CI = 3.51,173.41, P = 0.001) and subependymal giant cell astrocytoma (SEGA) (RR = 27.85, 95% CI = 1.74,444.82, P = 0.02). 30760308 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.090 Biomarker disease BEFREE Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection. 28302901 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.150 Biomarker disease BEFREE Enhanced expression of these growth factors and growth factor receptors in human SEGAs and tubers and in the Tsc1(GFAP)CKO mouse may account for enhanced cellular growth and proliferation in tubers and SEGAs and provides potential target molecules for therapeutic development in TSC. 21224066 2011
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.090 Biomarker disease BEFREE Everolimus is an inhibitor of the mammalian target of rapamycin (mTOR) that has been approved by the US Food and Drug Administration for the treatment of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC). 29277498 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.090 Biomarker disease BEFREE Examples of regrowth following discontinuation of mTOR inhibitors suggest that everolimus needs to be given indefinitely to maintain suppression of subependymal giant cell astrocytoma and other tuberous sclerosis complex-associated disease manifestations. 26092412 2015
Entrez Id: 3082
Gene Symbol: HGF
HGF
0.310 Biomarker disease BEFREE Expression of EGF, EGFR, HGF, c-Met, and VEGF protein, as well as hypoxia inducible factor-1α, a transcription factor that regulates VEGF levels and is also modulated by mTOR cascade activity, was enhanced in SEGAs (n = 6) and tubers (n = 10) from 15 TSC patients. 21224066 2011
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.010 AlteredExpression disease BEFREE Expression of EGF, EGFR, HGF, c-Met, and VEGF protein, as well as hypoxia inducible factor-1α, a transcription factor that regulates VEGF levels and is also modulated by mTOR cascade activity, was enhanced in SEGAs (n = 6) and tubers (n = 10) from 15 TSC patients. 21224066 2011
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.310 AlteredExpression disease BEFREE Expression of EGF, EGFR, HGF, c-Met, and VEGF protein, as well as hypoxia inducible factor-1α, a transcription factor that regulates VEGF levels and is also modulated by mTOR cascade activity, was enhanced in SEGAs (n = 6) and tubers (n = 10) from 15 TSC patients. 21224066 2011
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.090 AlteredExpression disease BEFREE Expression of EGF, EGFR, HGF, c-Met, and VEGF protein, as well as hypoxia inducible factor-1α, a transcription factor that regulates VEGF levels and is also modulated by mTOR cascade activity, was enhanced in SEGAs (n = 6) and tubers (n = 10) from 15 TSC patients. 21224066 2011
Entrez Id: 8202
Gene Symbol: NCOA3
NCOA3
0.300 Biomarker disease CTD_human Expression of estrogen receptors, androgen receptor and steroid receptor coactivator-3 is negatively correlated to the differentiation of astrocytic tumors. 24680642 2014
Entrez Id: 367
Gene Symbol: AR
AR
0.300 Biomarker disease CTD_human Expression of estrogen receptors, androgen receptor and steroid receptor coactivator-3 is negatively correlated to the differentiation of astrocytic tumors. 24680642 2014
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.300 Biomarker disease CTD_human Expression of estrogen receptors, androgen receptor and steroid receptor coactivator-3 is negatively correlated to the differentiation of astrocytic tumors. 24680642 2014
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
0.300 Biomarker disease CTD_human Expression of estrogen receptors, androgen receptor and steroid receptor coactivator-3 is negatively correlated to the differentiation of astrocytic tumors. 24680642 2014