SEGA
MCID: SBP001
MIFTS: 50

Subependymal Giant Cell Astrocytoma (SEGA)

Categories: Cancer diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Subependymal Giant Cell Astrocytoma

MalaCards integrated aliases for Subependymal Giant Cell Astrocytoma:

Name: Subependymal Giant Cell Astrocytoma 11 19 58 14 71 75
Sega 11 19 58
Astrocytoma Subependymal Giant Cell 53
Subependymal Giant-Cell Astrocytoma 5

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:5077
MeSH 43 D001254
NCIt 49 C3696
SNOMED-CT 68 449799008
ICD10 via Orphanet 32 D43.2
UMLS via Orphanet 72 C0205768
Orphanet 58 ORPHA251618
UMLS 71 C0205768

Summaries for Subependymal Giant Cell Astrocytoma

GARD: 19 A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.

MalaCards based summary: Subependymal Giant Cell Astrocytoma, also known as sega, is related to tuberous sclerosis 1 and hydrocephalus, and has symptoms including headache and seizures. An important gene associated with Subependymal Giant Cell Astrocytoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. The drugs Rocuronium and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and retina, and related phenotypes are Decreased viability and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation

Orphanet: 58 A rare low-grade astrocytoma characterized by a benign, slowly growing lesion typically arising in the wall of the lateral ventricles, composed of large ganglioid astrocytes. The tumor corresponds to WHO grade I and typically occurs during the first two decades of life in patients with tuberous sclerosis complex. Most patients present with worsening of epilepsy or symptoms of increased intracranial pressure.

Wikipedia: 75 Subependymal giant cell astrocytoma (SEGA, SGCA, or SGCT) is a low-grade astrocytic brain tumor... more...

Related Diseases for Subependymal Giant Cell Astrocytoma

Diseases related to Subependymal Giant Cell Astrocytoma via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 309, show less)
# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 1 32.3 TSC2 TSC1
2 hydrocephalus 31.5 SYP S100B NPY MTOR GFAP ENO2
3 angiomyolipoma 31.5 TSC2 TSC1 MTOR
4 intracranial hypertension 31.2 S100B GFAP ENO2
5 gemistocytic astrocytoma 31.1 S100B GFAP
6 cellular ependymoma 31.1 SYP S100B GFAP
7 brain cancer 31.0 TSC1 SYP NF1 GFAP ENO2
8 diffuse astrocytoma 31.0 NF1 KIAA1549 GFAP
9 obstructive hydrocephalus 30.8 TSC2 TSC1 SYP NF1 KIAA1549 GFAP
10 giant cell glioblastoma 30.8 SYP NF1 MTOR GFAP
11 west syndrome 30.7 TSC2 TSC1 NPY MTOR
12 focal cortical dysplasia, type ii 30.6 TSC2 TSC1 MTOR
13 lymphangioleiomyomatosis 30.6 TSC2 TSC1 RPS6KB1 MTOR
14 focal epilepsy 30.6 TSC1 NPY GFAP
15 central neurocytoma 30.5 SYP KIAA1549 GFAP ENO2
16 status epilepticus 30.5 SST S100B NPY MTOR GFAP ENO2
17 cystic kidney disease 30.5 TSC2 TSC1 SST MTOR
18 pleomorphic xanthoastrocytoma 30.4 SYP NF1 KIAA1549
19 hemangioma 30.4 TSC2 TSC1 SYP MTOR ENO2
20 epilepsy 30.3 TSC2 TSC1 SST S100B NPY MTOR
21 ganglioglioma 30.0 TSC2 TSC1 SYP S100B NF1 GFAP
22 neuroblastoma 29.9 SYP SST RPS6KB1 NPY NF1 MTOR
23 tuberous sclerosis 29.7 TSC2 TSC1 TBC1D7 SYP SST S100B
24 neurofibromatosis, type i 29.7 TSC2 TSC1 SST S100B NF1 MTOR
25 low grade glioma 29.4 TSC2 TSC1 SYP NF1 MTOR KIAA1549
26 kidney angiomyolipoma 29.2 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
27 glioma susceptibility 1 11.3
28 tuberous sclerosis 2 11.2
29 developmental and epileptic encephalopathy 72 11.0
30 stomatitis 10.6
31 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
32 hydrocephalus, congenital, 1 10.4
33 malignant melanocytic neoplasm of the peripheral nerve sheath 10.4 SYP ENO2
34 parietal lobe neoplasm 10.4 GFAP ENO2
35 neuronal intestinal dysplasia, type b 10.4 SYP ENO2
36 thymus small cell carcinoma 10.4 SYP ENO2
37 gastric small cell carcinoma 10.4 SYP ENO2
38 breast neuroendocrine neoplasm 10.4 SYP ENO2
39 cloacogenic carcinoma 10.4 SYP ENO2
40 pineal region teratoma 10.4 SYP ENO2
41 middle ear adenoma 10.4 SYP ENO2
42 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.4 SYP ENO2
43 cauda equina neoplasm 10.4 SYP ENO2
44 bile duct mucinous adenocarcinoma 10.4 SYP ENO2
45 auditory system benign neoplasm 10.4 SYP ENO2
46 carotid body cancer 10.4 SYP ENO2
47 pineal region choriocarcinoma 10.4 SYP ENO2
48 neurohypophysis granular cell tumor 10.4 SYP ENO2
49 intracranial primitive neuroectodermal tumor 10.4 SYP ENO2
50 auditory system cancer 10.4 SYP ENO2
51 cerebellar liponeurocytoma 10.4 SYP ENO2
52 nodular ganglioneuroblastoma 10.4 SYP ENO2
53 frontal lobe neoplasm 10.4 SYP ENO2
54 lipoma of spermatic cord 10.4 SYP ENO2
55 appendix carcinoid tumor 10.4 SYP ENO2
56 urinary bladder small cell neuroendocrine carcinoma 10.4 SYP ENO2
57 duodenal benign neoplasm 10.4 SYP SST
58 jejunal neoplasm 10.4 SYP ENO2
59 melanotic neuroectodermal tumor 10.4 SYP ENO2
60 paratesticular lipoma 10.4 SYP ENO2
61 endobronchial leiomyoma 10.4 GFAP ENO2
62 rectum neuroendocrine neoplasm 10.4 SYP SST
63 bladder small cell carcinoma 10.4 SYP ENO2
64 binswanger's disease 10.4 SYP GFAP
65 ataxia with vitamin e deficiency 10.4
66 papilledema 10.4
67 central nervous system cancer 10.4
68 rare tumor 10.4
69 gastric gastrinoma 10.4 SYP SST
70 prostate small cell carcinoma 10.4 SYP ENO2
71 ureter small cell carcinoma 10.4 SYP ENO2
72 central nervous system mesenchymal non-meningothelial tumor 10.4 SYP ENO2
73 multilocular clear cell renal cell carcinoma 10.4 TSC2 TSC1
74 ectomesenchymoma 10.4 SYP ENO2
75 sensory organ benign neoplasm 10.4 SYP ENO2
76 hepatic angiomyolipoma 10.4 TSC2 TSC1
77 mature teratoma of the ovary 10.4 SYP ENO2
78 laryngeal neuroendocrine tumor 10.4 SYP ENO2
79 ectopic cushing syndrome 10.4 SYP SST
80 liver lipoma 10.4 TSC2 TSC1
81 myoblastoma 10.4 SYP ENO2
82 gastrointestinal neuroendocrine benign tumor 10.4 SYP SST
83 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4 TSC2 TSC1
84 lung combined large cell neuroendocrine carcinoma 10.4 SYP ENO2
85 duodenal gastrinoma 10.4 SYP SST
86 cervix small cell carcinoma 10.4 SYP ENO2
87 pulmonary large cell neuroendocrine carcinoma 10.4 SYP ENO2
88 clear cell ependymoma 10.4 SYP GFAP
89 adrenal neuroblastoma 10.4 SYP ENO2
90 gliofibroma 10.3 KIAA1549 GFAP
91 epithelioid type angiomyolipoma 10.3 TSC2 TSC1
92 cerebral neuroblastoma 10.3 SYP GFAP ENO2
93 sinonasal undifferentiated carcinoma 10.3 SYP ENO2
94 chiari malformation 10.3 SYP GFAP
95 partial cryptophthalmia 10.3 SYP GFAP ENO2
96 cerebellopontine angle primitive neuroectodermal tumor 10.3 SYP GFAP ENO2
97 papillary ependymoma 10.3 SYP S100B GFAP
98 pancreatic gastrinoma 10.3 SYP SST
99 akinetic mutism 10.3 S100B ENO2
100 medulloepithelioma 10.3 SYP GFAP ENO2
101 cerebrovascular benign neoplasm 10.3 SYP GFAP ENO2
102 pineal gland cancer 10.3 SYP GFAP ENO2
103 malignant olfactory nerve neoplasm 10.3 SYP GFAP ENO2
104 embryonal tumor with multilayered rosettes, c19mc-altered 10.3 SYP GFAP ENO2
105 ovarian large-cell neuroendocrine carcinoma 10.3 SYP ENO2
106 supratentorial primitive neuroectodermal tumor 10.3 SYP GFAP ENO2
107 post-cardiac arrest syndrome 10.3 S100B ENO2
108 central nervous system primitive neuroectodermal neoplasm 10.3 SYP GFAP ENO2
109 malignant teratoma 10.3 SYP GFAP ENO2
110 blastoma 10.3 SYP S100B ENO2
111 lymphocele 10.3 SST MTOR
112 pineoblastoma 10.3 SYP GFAP ENO2
113 benign ileal neoplasm 10.3 SYP SST
114 cerebellar medulloblastoma 10.3 SYP ENO2
115 anal neuroendocrine tumor 10.3 SYP SST ENO2
116 askin's tumor 10.3 SYP ENO2
117 anaplastic ependymoma 10.3 SYP S100B GFAP
118 colon neuroendocrine neoplasm 10.3 SYP SST ENO2
119 ampulla of vater benign neoplasm 10.3 SYP SST ENO2
120 carcinoid tumors, intestinal 10.3 SYP SST ENO2
121 chondrosarcoma, extraskeletal myxoid 10.3 SYP GFAP ENO2
122 endometrial small cell carcinoma 10.3 SYP SST ENO2
123 small intestine benign neoplasm 10.3 SYP SST ENO2
124 amelanotic melanoma 10.3 SYP S100B ENO2
125 pulmonary neuroendocrine tumor 10.3 SYP SST ENO2
126 choroid plexus cancer 10.3 SYP S100B GFAP
127 olfactory neuroblastoma 10.3 SYP S100B ENO2
128 large cell neuroendocrine carcinoma 10.3 SYP SST ENO2
129 lung large cell carcinoma 10.3 SYP SST ENO2
130 pleomorphic adenoma 10.3 S100B GFAP ENO2
131 exudative vitreoretinopathy 6 10.3 MTOR FKBP1A
132 islet cell tumor 10.3 SYP SST ENO2
133 lung oat cell carcinoma 10.3 SYP ENO2
134 prostate neuroendocrine neoplasm 10.3 SYP ENO2
135 scalp-ear-nipple syndrome 10.3
136 glioblastoma 10.3
137 bronchitis 10.3
138 vagus nerve neoplasm 10.3 SYP NF1
139 pacinian tumor 10.3 NF1 ENO2
140 perivascular epithelioid cell tumor 10.3 TSC2 TSC1 MTOR
141 nasal cavity olfactory neuroblastoma 10.3 SYP ENO2
142 hemimegalencephaly 10.3 RHEB MTOR
143 merkel cell carcinoma 10.3 SYP SST ENO2
144 chordoid glioma 10.3 SYP KIAA1549 GFAP
145 angiolipoma 10.3 TSC2 TSC1
146 lumbosacral plexus lesion 10.3 SYP NF1
147 intestinal pseudo-obstruction 10.3 SYP SST S100B
148 birt-hogg-dube syndrome 10.3 TSC2 TSC1 MTOR
149 plexiform schwannoma 10.3 NF1 ENO2
150 small cell cancer of the lung 10.3 SYP SST ENO2
151 pancreatic somatostatinoma 10.3 SST NF1
152 gallbladder small cell carcinoma 10.3 SYP ENO2
153 optic nerve sheath meningioma 10.3 SST NF1
154 polycystic liver disease 10.3 TSC2 SST MTOR
155 pineocytoma 10.3 SYP S100B GFAP ENO2
156 papilloma of choroid plexus 10.2 SYP S100B GFAP ENO2
157 polycystic kidney disease 1 with or without polycystic liver disease 10.2 TSC2 TSC1 MTOR
158 subungual glomus tumor 10.2 SYP NF1
159 granular cell tumor 10.2 SYP S100B GFAP ENO2
160 ovarian small cell carcinoma 10.2 SYP ENO2
161 hemangioblastoma 10.2 SYP S100B GFAP ENO2
162 extra-adrenal pheochromocytoma 10.2 SYP NF1
163 skin granular cell tumor 10.2 NF1 ENO2
164 microcystic adenoma 10.2 SYP ENO2
165 duodenal somatostatinoma 10.2 SST NF1
166 teratoma 10.2 SYP SST GFAP ENO2
167 epithelioid malignant peripheral nerve sheath tumor 10.2 NF1 ENO2
168 malignant triton tumor 10.2 NF1 ENO2
169 perivascular tumor 10.2 TSC2 TSC1 SYP ENO2
170 rhabdoid meningioma 10.2 SYP GFAP
171 ganglioneuroblastoma 10.2 SYP S100B NPY ENO2
172 carcinoid syndrome 10.2 SYP SST NPY ENO2
173 neurofibroma 10.2 SYP S100B NF1
174 neuroendocrine carcinoma 10.2 SYP SST S100B ENO2
175 uterus perivascular epithelioid cell tumor 10.2 TSC2 TSC1 RPS6KB1
176 orbital cancer 10.2 SYP NF1 ENO2
177 horner's syndrome 10.2 SYP NF1 ENO2
178 gastrointestinal neuroendocrine tumor 10.2 SYP SST MTOR ENO2
179 corneal dystrophy, fleck 10.2 TSC2 TSC1 MTOR GFAP
180 achalasia 10.2 S100B NPY ENO2
181 somatostatinoma 10.2 SST NF1 ENO2
182 cerebral ventricle cancer 10.2 SYP KIAA1549 GFAP ENO2
183 spinal cord astrocytoma 10.2 NF1 KIAA1549
184 esophageal atresia 10.2 SYP SST S100B NPY
185 cerebrum cancer 10.2 SYP KIAA1549 GFAP ENO2
186 supratentorial cancer 10.2 SYP KIAA1549 GFAP ENO2
187 epidural spinal canal neoplasm 10.2 NF1 KIAA1549
188 myxopapillary ependymoma 10.2 SYP S100B KIAA1549 GFAP
189 perianal hematoma 10.2 SST NPY NF1
190 skeletal muscle cancer 10.2 SYP NF1 ENO2
191 muscle cancer 10.2 SYP NF1 ENO2
192 cardiovascular organ benign neoplasm 10.2 SYP NF1 ENO2
193 polycystic kidney disease 4 with or without polycystic liver disease 10.2 TSC2 SST MTOR
194 alexander disease 10.2 S100B MTOR GFAP CRYAB
195 pilocytic astrocytoma of cerebellum 10.2 NF1 KIAA1549
196 gastric neuroendocrine neoplasm 10.2 SYP SST
197 hypomelanosis of ito 10.2 TSC2 NF1
198 fibrillary astrocytoma 10.2 NF1 KIAA1549 GFAP
199 autosomal dominant polycystic kidney disease 10.2 TSC2 TSC1 SST MTOR
200 infratentorial cancer 10.2 SYP NF1 GFAP
201 klippel-trenaunay-weber syndrome 10.2 SST NF1 MTOR
202 cystic basal cell carcinoma 10.2 SYP ENO2
203 anaplastic oligodendroglioma 10.2 NF1 KIAA1549 GFAP
204 neuroma 10.1 S100B NF1 GFAP ENO2
205 pilomyxoid astrocytoma 10.1 SYP NF1 KIAA1549
206 hypercholesterolemia, familial, 1 10.1
207 otitis media 10.1
208 retinoblastoma 10.1
209 down syndrome 10.1
210 factor vii deficiency 10.1
211 fanconi anemia, complementation group d2 10.1
212 fanconi anemia, complementation group a 10.1
213 alpha-thalassemia/mental retardation syndrome, x-linked 10.1
214 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
215 neurofibromatosis-noonan syndrome 10.1
216 fanconi anemia, complementation group f 10.1
217 fanconi anemia, complementation group g 10.1
218 exanthem 10.1
219 fibroma 10.1
220 cardiac arrest 10.1
221 amnestic disorder 10.1
222 neutropenia 10.1
223 communicating hydrocephalus 10.1
224 melanoma 10.1
225 anterograde amnesia 10.1
226 eating disorder 10.1
227 neurofibromatosis 10.1
228 aphthous stomatitis 10.1
229 48,xyyy 10.1
230 49, xxxxy syndrome 10.1
231 children's interstitial lung disease 10.1
232 subependymoma 10.1
233 glial tumor 10.1
234 spinal cord oligodendroglioma 10.1 SYP NF1 GFAP ENO2
235 juvenile pilocytic astrocytoma 10.1 NF1 KIAA1549
236 optic nerve astrocytoma 10.1 TSC2 SYP NF1 ENO2
237 extraosseous ewing sarcoma 10.1 SYP ENO2
238 hirschsprung disease 1 10.1 SYP S100B NPY GFAP ENO2
239 glomus tumor 10.1 SYP S100B NF1 ENO2
240 muscle hypertrophy 10.1 RPS6KB1 MTOR EIF4EBP1
241 adrenal medulla cancer 10.1 SYP SST NF1 ENO2
242 cerebral degeneration 10.1 SYP S100B NF1 GFAP
243 malignant pheochromocytoma 10.1 SYP SST NF1 ENO2
244 autonomic nervous system benign neoplasm 10.1 SYP SST NF1 ENO2
245 peripheral nervous system benign neoplasm 10.1 SYP SST NF1 ENO2
246 creutzfeldt-jakob disease 10.1 SYP S100B GFAP ENO2 CRYAB
247 leiomyosarcoma 10.1 S100B NF1 ENO2
248 connective tissue benign neoplasm 10.1 TSC2 TSC1 NF1 ENO2
249 specific developmental disorder 10.1 TSC2 NPY NF1 GFAP
250 rhabdomyosarcoma 2 10.1 SYP NF1 ENO2
251 endocrine organ benign neoplasm 10.1 SYP SST NF1 ENO2
252 adrenal carcinoma 10.1 SYP SST NF1 ENO2
253 multiple endocrine neoplasia 10.1 SYP SST NF1
254 cell type benign neoplasm 10.1 TSC2 SYP SST NF1
255 spinal cancer 10.1 NF1 KIAA1549 GFAP ENO2
256 childhood pilocytic astrocytoma 10.1 NF1 KIAA1549
257 dysembryoplastic neuroepithelial tumor 10.1 SYP NF1 KIAA1549 GFAP
258 small cell osteogenic sarcoma 10.1 SYP ENO2
259 adrenal cortical carcinoma 10.1 SYP NF1 MTOR ENO2
260 atypical teratoid rhabdoid tumor 10.1 SYP NF1 KIAA1549 GFAP
261 thyroid gland cancer 10.1 SYP SST NF1 ENO2
262 optic nerve glioma 10.1 NF1 MTOR KIAA1549 ENO2
263 multiple endocrine neoplasia, type i 10.0 SYP SST NF1
264 optic nerve neoplasm 10.0 SST NF1 MTOR KIAA1549
265 oligodendroglioma 10.0 SYP S100B NF1 GFAP ENO2
266 neurilemmoma 10.0 SYP S100B NF1 GFAP ENO2
267 kidney benign neoplasm 10.0 TSC2 TSC1 TBC1D7 RHEB MTOR
268 ganglioneuroma 10.0 TSC1 SYP SST S100B GFAP ENO2
269 cerebellar astrocytoma 10.0 NF1 KIAA1549
270 cranial nerve malignant neoplasm 10.0 SYP SST NF1 GFAP ENO2
271 gangliocytoma 10.0 TSC2 SYP SST KIAA1549 GFAP ENO2
272 ewing sarcoma 10.0 SYP S100B NPY NF1 ENO2
273 cerebellum cancer 10.0 SYP NF1 KIAA1549 GFAP ENO2
274 neural tube defects 10.0 SYP S100B NF1 GFAP ENO2
275 proteus syndrome 10.0 TSC2 TSC1 RHEB NF1 MTOR
276 paraganglioma 9.9 SYP SST S100B NF1 GFAP ENO2
277 gliosarcoma 9.9 SYP S100B NF1 MTOR GFAP ENO2
278 von hippel-lindau syndrome 9.9 TSC2 SYP SST NPY NF1 ENO2
279 rasopathy 9.9 TSC2 RHEB NF1 MTOR KIAA1549
280 pheochromocytoma 9.9 SYP SST S100B NPY NF1 ENO2
281 gastrointestinal stromal tumor 9.9 SYP SST S100B NF1 MTOR ENO2
282 dravet syndrome 9.9 TSC2 RICTOR MTOR MLST8
283 pilocytic astrocytoma 9.9 TSC1 SYP S100B NF1 KIAA1549 GFAP
284 multiple sclerosis 9.9
285 oculodentodigital dysplasia 9.9
286 myopathy, distal, with anterior tibial onset 9.9
287 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 9.9
288 helix syndrome 9.9
289 distal muscular dystrophy with anterior tibial onset 9.9
290 high grade glioma 9.9
291 lymphoid interstitial pneumonia 9.8 TSC2 TSC1 MTOR
292 medulloblastoma 9.8 TSC2 SYP S100B NF1 MTOR GFAP
293 neuroendocrine tumor 9.8 SYP SST RPS6KB1 NF1 MTOR ENO2
294 neurodegeneration with brain iron accumulation 9.8 TSC2 TSC1 RPTOR RHEB MTOR MLST8
295 spinal cord disease 9.8 TSC2 TSC1 SYP NF1 MTOR KIAA1549
296 peripheral nervous system disease 9.7 SYP SST S100B NPY NF1 MTOR
297 alzheimer disease, familial, 1 9.7 TSC2 SYP S100B RPS6KB1 NPY MTOR
298 meningioma, familial 9.7 TSC1 SYP SST S100B NF1 KIAA1549
299 central nervous system benign neoplasm 9.7 TSC2 TSC1 SYP NF1 MTOR KIAA1549
300 type 2 diabetes mellitus 9.6 TSC2 TSC1 SST RPS6KB1 RHEB NPY
301 rhabdomyosarcoma 9.6 SYP S100B RPS6KB1 NF1 MTOR GFAP
302 nervous system disease 9.4 TSC2 SYP SST S100B RPS6KB1 NPY
303 fragile x syndrome 9.4 TSC2 TSC1 RPTOR RPS6KB1 RHEB NF1
304 autism 9.4 TSC2 TSC1 RPTOR RPS6KB1 RHEB NF1
305 autism spectrum disorder 9.4 TSC2 TSC1 RPTOR RPS6KB1 RHEB NF1
306 cowden syndrome 8.9 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
307 cowden syndrome 1 8.9 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
308 subependymal glioma 8.4 TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
309 benign ependymoma 8.2 TSC2 TSC1 TBC1D7 SYP RPTOR RPS6KB1

Graphical network of the top 20 diseases related to Subependymal Giant Cell Astrocytoma:



Diseases related to Subependymal Giant Cell Astrocytoma

Symptoms & Phenotypes for Subependymal Giant Cell Astrocytoma

UMLS symptoms related to Subependymal Giant Cell Astrocytoma:


headache; seizures

GenomeRNAi Phenotypes related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

25 (showing 16, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.93 MTOR
2 Decreased viability GR00055-A-2 9.93 MTOR
3 Decreased viability GR00221-A-1 9.93 MLST8 MTOR NF1 RHEB RPS6KB1
4 Decreased viability GR00221-A-2 9.93 NF1
5 Decreased viability GR00221-A-4 9.93 MLST8 MTOR NF1
6 Decreased viability GR00249-S 9.93 NF1
7 Decreased viability GR00301-A 9.93 RPS6KB1
8 Decreased viability GR00342-S-1 9.93 MTOR
9 Decreased viability GR00342-S-2 9.93 MTOR
10 Decreased viability GR00381-A-1 9.93 RPS6KB1
11 Decreased viability GR00386-A-1 9.93 NF1 RHEB
12 Decreased viability GR00402-S-2 9.93 RPS6KB1
13 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.55 EIF4EBP1 ENO2 RPS6KB1 TSC1 TSC2
14 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
15 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
16 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

45 (showing 10, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 CRYAB EIF4EBP1 FKBP1A GFAP KIAA1549 MTOR
2 nervous system MP:0003631 10.27 ENO2 FKBP1A GFAP MLST8 MTOR NF1
3 growth/size/body region MP:0005378 10.22 EIF4EBP1 ENO2 FKBP1A GFAP MLST8 MTOR
4 muscle MP:0005369 10.21 CRYAB EIF4EBP1 FKBP1A GFAP MTOR NF1
5 normal MP:0002873 10.18 FKBP1A GFAP MTOR NF1 NPY RHEB
6 adipose tissue MP:0005375 10.01 EIF4EBP1 KIAA1549 MTOR NPY RICTOR RPS6KB1
7 cellular MP:0005384 9.97 CRYAB EIF4EBP1 ENO2 FKBP1A GFAP MTOR
8 embryo MP:0005380 9.96 FKBP1A MLST8 MTOR NF1 RHEB RICTOR
9 cardiovascular system MP:0005385 9.73 EIF4EBP1 FKBP1A GFAP MLST8 MTOR NF1
10 behavior/neurological MP:0005386 9.5 CRYAB ENO2 FKBP1A GFAP KIAA1549 MTOR

Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

Drugs for Subependymal Giant Cell Astrocytoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 58, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
4
Etomidate Approved Phase 4 33125-97-2 667484
5
Vecuronium Approved, Investigational Phase 4 50700-72-6, 86029-43-8 39765 39764
6
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Desflurane Approved Phase 4 57041-67-5 42113
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Succinylcholine Approved Phase 4 306-40-1, 71-27-2 5314
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12 Fibrinolytic Agents Phase 4
13 Anticoagulants Phase 4
14 Anesthetics Phase 4
15
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
16
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
17 Immunosuppressive Agents Phase 3
18 Immunologic Factors Phase 3
19
Erlotinib Approved, Investigational Phase 1, Phase 2 183319-69-9, 183321-74-6 176870
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
22
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Anti-Infective Agents Phase 1, Phase 2
25 Antifungal Agents Phase 1, Phase 2
26 Antibiotics, Antitubercular Phase 1, Phase 2
27 Protein Kinase Inhibitors Phase 1, Phase 2
28 Angiogenesis Inhibitors Phase 2
29
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
30
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
31
Lenograstim Approved, Investigational Phase 1 135968-09-1
32
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
33
Lenalidomide Approved Phase 1 191732-72-6 216326
34
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3 3680
35
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 3003 5743
36
Cediranib Investigational Phase 1 288383-20-0 9933475
37
Maleic acid Experimental, Investigational Phase 1 110-16-7, 110-17-8 444266 444972
38
Veliparib Investigational Phase 1 912444-00-9 11960529
39 Histone Deacetylase Inhibitors Phase 1
40 Alkylating Agents Phase 1
41 Antineoplastic Agents, Alkylating Phase 1
42 O(6)-benzylguanine Phase 1
43 Poly(ADP-ribose) Polymerase Inhibitors Phase 1
44 Antineoplastic Agents, Hormonal Phase 1
45 Gastrointestinal Agents Phase 1
46 R04929097 Phase 1
47 Hormones Phase 1
48 Hormone Antagonists Phase 1
49 Antiemetics Phase 1
50 glucocorticoids Phase 1
51 BB 1101 Phase 1
52 Anti-Inflammatory Agents Phase 1
53
Dopamine Approved 62-31-7, 51-61-6 681
54 Protective Agents Early Phase 1
55 Dihydroxyphenylalanine
56 Neurotransmitter Agents
57 Dopamine Agents
58 Fluorides

Interventional clinical trials:

(showing 20, show less)
# Name Status NCT ID Phase Drugs
1 SEGA - SEdation Versus General Anesthesia for Endovascular Therapy in Acute Ischemic Stroke - a Randomized Comparative Effectiveness Trial. Recruiting NCT03263117 Phase 4 Sedation;General Anesthesia (GA)
2 A Randomized, Double-blind, Placebo-controlled Study of Everolimus in the Treatment of Patients With Subependymal Giant Cell Astrocytomas (SEGA) Associated With Tuberous Sclerosis Complex (TSC) Completed NCT00789828 Phase 3 Everolimus;Placebo
3 Everolimus (RAD001)Therapy of Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex Completed NCT00411619 Phase 1, Phase 2 Everolimus
4 Phase II Trial of RAD001 in Patients With Recurrent Low Grade Glioma Completed NCT00823459 Phase 2 Everolimus
5 Phase I/II Study of OSI-774 (Erlotinib) and CCI-779 (Temsirolimus) in Patients With Recurrent Malignant Glioma Completed NCT00112736 Phase 1, Phase 2 erlotinib;temsirolimus
6 A Phase II Study of Sunitinib (NSC# 736511) in Recurrent, Refractory or Progressive High Grade Glioma and Ependymoma Tumors in Pediatric and Young Adult Patients Completed NCT01462695 Phase 2 Sunitinib Malate
7 A Phase I Study of Vorinostat and Bortezomib in Children With Refractory or Recurrent Solid Tumors, Including CNS Tumors and Lymphomas Completed NCT00994500 Phase 1 vorinostat;bortezomib
8 Phase I Trial of Temozolomide and O6-Benzylguanine in Pediatric Patients With Recurrent Brain Tumors Completed NCT00052780 Phase 1 O6-benzylguanine;temozolomide
9 A Phase I Trial of CC-5013 (Lenalidomide) in Pediatric Patients With Recurrent or Refractory Primary CNS Tumors Completed NCT00100880 Phase 1 lenalidomide
10 Phase I Study of Cilengitide (EMD 121974) in Children With Refractory Brain Tumors Completed NCT00063973 Phase 1 cilengitide
11 A Phase I Study of SAHA and Temozolomide in Children With Relapsed or Refractory Primary Brain or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
12 A Phase I Clinical Trial of AZD2171 in Children With Recurrent or Progressive Central Nervous System (CNS) Tumors Completed NCT00326664 Phase 1 Cediranib Maleate
13 A Phase I Study of ABT-888, an Oral Inhibitor of Poly (ADP-Ribose) Polymerase and Temozolomide in Children With Recurrent/Refractory CNS Tumors Completed NCT00946335 Phase 1 veliparib;temozolomide
14 Phase 1 Trial of RO4929097 in Combination With Standard Radiotherapy and Temozolomide for Newly Diagnosed Malignant Glioma: A Pharmacokinetic and Pharmacodynamic Study Completed NCT01119599 Phase 1 Gamma-Secretase Inhibitor RO4929097;Temozolomide
15 Phase I Study of Alisertib With Concurrent Fractionated Stereotactic Radiation Treatment for Recurrent High Grade Gliomas Completed NCT02186509 Phase 1 Alisertib
16 A PHASE 1/2 STUDY OF RO4929097, AN ORAL SMALL MOLECULE INHIBITOR OF GAMMA-SECRETASE, IN CHILDREN WITH RELAPSED/REFRACTORY SOLID OR CNS TUMORS, LYMPHOMA, OR T-CELL LEUKEMIA Terminated NCT01088763 Phase 1 gamma-secretase/Notch signalling pathway inhibitor RO4929097;dexamethasone
17 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Active, not recruiting NCT02654340
18 A Pilot Study of Utility of 18F-FDOPA-PET for Neurosurgical Planning and Radiotherapy Target Delineation in Glioma Patients: Biopsy Validation of 18F-FDOPA-PET Uptake and Biodistribution in Brain Tumors Active, not recruiting NCT01165632 Early Phase 1 fluorine F 18 fluorodopa
19 18F-FDOPA PET/CT or PET/MRI in Patients With Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine
20 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Subependymal Giant Cell Astrocytoma

Genetic Tests for Subependymal Giant Cell Astrocytoma

Anatomical Context for Subependymal Giant Cell Astrocytoma

Organs/tissues related to Subependymal Giant Cell Astrocytoma:

MalaCards : Brain, Spinal Cord, Retina, Fetal Brain, Thyroid, Breast, Skin

Publications for Subependymal Giant Cell Astrocytoma

Articles related to Subependymal Giant Cell Astrocytoma:

(showing 523, show less)
# Title Authors PMID Year
1
Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications. 53 62
20133820 2010
2
Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. 53 62
19856393 2010
3
Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complex. 53 62
18673443 2009
4
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 53 62
16237225 2005
5
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. 53 62
15851742 2005
6
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. 53 62
15624760 2004
7
Expression profiling in tuberous sclerosis complex (TSC) knockout mouse astrocytes to characterize human TSC brain pathology. 53 62
14999811 2004
8
Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. 53 62
15747752 2004
9
Subependymal giant cell astrocytoma--a clinicopathological study of 23 cases with special emphasis on histogenesis. 53 62
15619643 2004
10
Subependymal giant cell astrocytoma with positive tuberin expression--case report. 53 62
14723270 2003
11
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. 53 62
9403714 1997
12
HMB-45 and tuberin in hamartomas associated with tuberous sclerosis. 53 62
9310961 1997
13
Immunohistochemical characterization of subependymal giant cell astrocytomas. 53 62
8928613 1996
14
Subependymal giant-cell astrocytoma: A surgical review in the modern era of mTOR inhibitors. 62
35907444 2022
15
Erratum to "Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures". 62
36097800 2022
16
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex. 62
34709498 2022
17
First principles prediction of electronic, mechanical, transport and optical properties of the silicane/Ga2SSe heterostructure. 62
36380915 2022
18
Physical Activity in the Elderly and Frailty Syndrome: A Retrospective Study in Primary Care. 62
36286584 2022
19
Resection of brain lesions with a neuroendoscopic ultrasonic aspirator - a systematic literature review. 62
35896917 2022
20
Effect of enhanced home support: a retrospective study of the « [email protected] » project 62
36322806 2022
21
A Segment-Based Drift Adaptation Method for Data Streams. 62
33835922 2022
22
Association of Frailty Status with Risk of Fall among Hospitalized Elderly Patients: A Cross-Sectional Study in an Acute Geriatric Unit. 62
36286581 2022
23
Therapeutic effect of everolimus on small renal angiomyolipoma in cases of tuberous sclerosis complex-related epilepsy and subependymal giant cell astrocytoma. 62
36031512 2022
24
Late Manifestation of Subependymal Giant Cell Astrocytoma With Hydrocephalus in an Adult Patient With Tuberous Sclerosis Complex. 62
36176856 2022
25
Tunable Schottky barrier in Janus-XGa2Y/Graphene (X/Y = S, Se, Te;X≠Y) van der Waals heterostructures. 62
35817003 2022
26
Electronic structure and interface contact of two-dimensional van der Waals boron phosphide/Ga2SSe heterostructures. 62
35865616 2022
27
Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification. 62
35562132 2022
28
Prevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review. 62
34718782 2022
29
Tuber Brain Proportion Determines Epilepsy Onset in Children With Tuberous Sclerosis Complex. 62
35217276 2022
30
Managing Headache Disorders Associated with Tuberous Sclerosis and Neurofibromatosis. 62
35179724 2022
31
The clinical and paraclinical manifestations of tuberous sclerosis complex in children. 62
33738777 2022
32
TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA. 62
34871801 2022
33
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. 62
35101906 2022
34
Initial experience with magnetic resonance-guided focused ultrasound stereotactic surgery for central brain lesions in young adults. 62
35171812 2022
35
Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities. 62
36238691 2022
36
Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review. 62
36074682 2022
37
Mechanistic Target of Rapamycin (mTOR) Inhibitors. 62
35091825 2022
38
[Subependymal Giant Cell Astrocytoma with Tuberous Sclerosis Complex(TSC-SEGA)]. 62
35169091 2022
39
Cytopathological and histopathological features of cerebral granular cell astrocytoma: A case report. 62
34608699 2022
40
Story of the solitary subependymal giant cell astrocytoma: A case report and literature review. 62
34542400 2022
41
TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma. 62
34741623 2022
42
Chromosome segregation in Archaea: SegA- and SegB-DNA complex structures provide insights into segrosome assembly. 62
34850144 2021
43
An Israeli tuberous sclerosis cohort: the efficacy of different anti-epileptic strategies. 62
34491422 2021
44
Clinical trial challenges, design considerations, and outcome measures in rare CNS tumors. 62
34725696 2021
45
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. 62
34403804 2021
46
Exception from informed consent in the era of social media: The SEGA stroke trial experience. 62
35071841 2021
47
Concordance in mSEGA Tool to Frailty Diagnosis between Medical Doctors and Nurses. 62
34822360 2021
48
A standardized genome architecture for bacterial synthetic biology (SEGA). 62
34620865 2021
49
TSC1 Mosaicism Leading to Subependymal Giant Cell Astrocytoma but Not Tuberous Sclerosis Complex. 62
34391197 2021
50
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives. 62
34275102 2021
51
Validation of the Zulfiqar Frailty Scale (ZFS): A New Tool for General Practitioners. 62
34564094 2021
52
Innumerable Meningiomas Arising in a Patient With Tuberous Sclerosis Complex Decades After Radiation Therapy. 62
33826429 2021
53
Diabetes in Individuals With Tuberous Sclerosis Complex Treated With mTOR Inhibitors. 62
33962348 2021
54
A Rare Case of Isolated Intraventricular Primary Central Nervous System Lymphoma in an 85-Year-Old Man. 62
34660383 2021
55
Hemorrhage Into a Subependymal Giant Cell Astrocytoma in an Adult With Tuberous Sclerosis: Case Report. 62
34190204 2021
56
Role of the community pharmacist in detecting frailty and spatio-temporal disorientation among community-dwelling older people in France. 62
32754888 2021
57
Large lateral intraventricular tumors - Outcome of radical surgery. 62
33992185 2021
58
Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome. 62
32516799 2021
59
A case of subependymal giant cell astrocytoma without tuberous sclerosis complex and review of the literature. 62
32808065 2021
60
The Characterization of a Subependymal Giant Astrocytoma-Like Cell Line from Murine Astrocyte with mTORC1 Hyperactivation. 62
33923449 2021
61
A case of solitary subependymal giant cell astrocytoma with histopathological anaplasia and TSC2 gene alteration. 62
32725466 2021
62
Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility. 62
33784976 2021
63
Trends in survival and treatment of SEGA: National Cancer Database Analysis. 62
33664974 2021
64
The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial. 62
33681737 2021
65
Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome. 62
33181865 2021
66
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. 62
33051600 2021
67
The Efficacy of Everolimus for Facial Angiofibromas in Tuberous Sclerosis Complex Patients Treated for Renal Angiomyolipoma/Subependymal Giant Cell Astrocytoma. 62
33032292 2021
68
The Effect of Everolimus on Subependymal Giant Cell Astrocytoma (SEGA) in Children with Tuberous Sclerosis Complex. 62
34782838 2021
69
Maintenance Therapy With Everolimus for Subependymal Giant Cell Astrocytoma in Patients With Tuberous Sclerosis - Final Results From the EMINENTS Study. 62
33897576 2021
70
A solitary extraventricular subependymal giant cell astrocytoma in the absence of tuberous sclerosis. 62
33250950 2021
71
Subependymal Giant Cell Astrocytoma in a 79-Year-Old Woman without Clinical Features of Tuberous Sclerosis: A Case Report. 62
33068006 2021
72
Long Term Outcome and Histologic Findings of a Retinal Astrocytic Hamartoma Treated with Intravitreal Injection of Anti-VEGF: A Case Report. 62
34603809 2021
73
Solitary subependymal giant cell astrocytoma: Case report and review of the literature. 62
33317733 2020
74
Familial Nervous System Tumor Syndromes. 62
33273171 2020
75
Bilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: a Case Report and Review of The Literature. 62
33816078 2020
76
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. 62
32461669 2020
77
Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement? 62
32671416 2020
78
[Frailty of the elderly and physical activity in general practice: A prospective study]. 62
32855006 2020
79
Pharmacological treatment strategies for subependymal giant cell astrocytoma (SEGA). 62
32338549 2020
80
Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro. 62
32472129 2020
81
Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex. 62
32532290 2020
82
Neurosurgical treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex: a series of 44 surgical procedures in 31 patients. 62
31853898 2020
83
The effect of mTOR inhibition on obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA). 62
32285309 2020
84
Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology. 62
32103336 2020
85
Prevalence and factors associated with frailty in hospitalized older patients. 62
32306905 2020
86
An update on the central nervous system manifestations of neurofibromatosis type 1. 62
30963251 2020
87
Predictive capacity of the modified SEGA frailty scale upon discharge from geriatric hospitalisation: a six-month prospective study. 62
32398217 2020
88
[Predictive capacities at the end of hospitalisation in geriatrics of the modified SEGA frailty score: a 6-month prospective study]. 62
32160982 2020
89
Endoscopic Transforaminal Transchoroidal Approach to the Third Ventricle for Cystic and Solid Tumors. 62
31669244 2020
90
Subependymal Giant-cell Astrocytoma Masquerading as Restrictive Eating Disorder and Depression in an Adolescent. 62
32547840 2020
91
Infantile atypical subependymal giant cell astrocytoma. 62
31982898 2020
92
Fetal subependymal giant cell astrocytoma: A case report and review of the literature. 62
32123614 2020
93
Ability of Emergency Department Physicians Using a Functional Autonomy-Assessing Version of the Triage Risk Screening Tool to Detect Frail Older Patients Who Require Mobile Geriatric Team Consultation. 62
32510117 2020
94
The coding and non-coding transcriptional landscape of subependymal giant cell astrocytomas. 62
31834371 2020
95
Child Victim Services in the Time of COVID-19: New Challenges and Innovative Solutions. 62
32837160 2020
96
Effect of everolimus on multifocal micronodular pneumocyte hyperplasia in tuberous sclerosis complex. 62
33312857 2020
97
Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex. 62
31819914 2019
98
Subependymal giant cell astrocytoma harboring a PRRC2B-ALK fusion: A case report. 62
31502411 2019
99
Subependymal Giant Cell Astrocytoma Size Measurement in Tuberous Sclerosis Complex: Noncontrast vs Contrast-Enhanced 3-Dimensional T1-Weighted Magnetic Resonance Imaging (MRI). 62
31424303 2019
100
Neurological malignancies in neurofibromatosis type 1. 62
31436563 2019
101
Prevalence of mild hyponatremia and its association with falls in older adults admitted to an emergency geriatric medicine unit (the MUPA unit). 62
31615437 2019
102
[Prognostic value at one year of frailty as evaluated by the SEGA instrument for octogenarians presenting an acute coronary syndrome: PROSECO study]. 62
31339491 2019
103
Subependymal giant cell astrocytoma: an unexpected finding during a forensic autopsy. 62
31250321 2019
104
Cryo-EM structures of four polymorphic TDP-43 amyloid cores. 62
31235914 2019
105
Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. 62
30550347 2019
106
Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2. 62
30053159 2019
107
Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications. 62
31258848 2019
108
[The Efficacy of Everolimus for Refractory Seizures in Childhood Onset Epilepsy with Tuberous Sclerosis Complex]. 62
31171758 2019
109
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study. 62
31053163 2019
110
[Feasibility of assessing frailty in general medicine patients aged over 65]. 62
30853146 2019
111
CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex. 62
30756282 2019
112
[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)]. 62
30763959 2019
113
Factors affecting epilepsy prognosis in patients with tuberous sclerosis. 62
30673834 2019
114
Glioblastoma in a patient with tuberous sclerosis. 62
30528355 2019
115
Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. 62
30760308 2019
116
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. 62
31708865 2019
117
Novel small molecule protein kinase CK2 inhibitors exert potent antitumor effects on T98G and SEGA cells in vitro. 62
31588710 2019
118
Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. 62
30424962 2019
119
Reliability of Imaging-Based Diagnosis of Lateral Ventricular Masses in Children. 62
30660880 2019
120
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. 62
31333563 2019
121
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. 62
31428037 2019
122
Dense array EEG estimated the epileptic focus in a patient with epilepsy secondary to tuberous sclerosis complex. 62
30077508 2019
123
Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association. 62
29973652 2018
124
Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomized EXIST-1 and EXIST-2 studies. 62
29569806 2018
125
Subependymal Giant Cell Astrocytoma: A Surveillance, Epidemiology, and End Results Program-Based Analysis from 2004 to 2013. 62
29966782 2018
126
[Screening of frailty in family practice by the modified SEGA grid]. 62
30335257 2018
127
Surgery for subependymal giant cell astrocytomas in children with tuberous sclerosis complex. 62
29766265 2018
128
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2. 62
29432982 2018
129
Efficacy and safety of everolimus in patients younger than 12 months with congenital subependymal giant cell astrocytoma. 62
29395661 2018
130
Trapped ventricle after laser ablation of a subependymal giant cell astrocytoma complicated by intraventricular gadolinium extravasation: case report. 62
29451453 2018
131
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. 62
29500070 2018
132
Potent Antitumour Effects of Novel Pentabromobenzylisothioureas Studied on Human Glial-derived Tumour Cell Lines. 62
29715089 2018
133
Tuberous sclerosis complex-associated CNS abnormalities depend on hyperactivation of mTORC1 and Akt. 62
29389670 2018
134
Progressive cystic lesion in a middle-aged patient with tuberous sclerosis complex: A case report. 62
29642206 2018
135
Different MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations. 62
29258718 2018
136
The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review. 62
29211682 2018
137
Atypical subependymal giant cell astrocytoma and neonatal tuberous sclerosis. 62
29555882 2018
138
Retinal astrocytoma regression in tuberous sclerosis patients treated with everolimus. 62
29277498 2018
139
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. 62
28993887 2018
140
[Hemangioma arising in subependymal giant cell astrocytoma: report of a case]. 62
29325254 2018
141
The level of microRNA 21 is upregulated by rapamycin in serum of tuberous sclerosis complex patients and subependymal giant cell astrocytoma (SEGA)-derived cell cultures. 62
30509037 2018
142
A Comparative Immunohistochemical Study of Epithelial Membrane Antigen and NHERF1/EBP50 in the Diagnosis of Ependymomas. 62
27753657 2018
143
Everolimus. 62
30069763 2018
144
Multiple Critical Periods for Rapamycin Treatment to Correct Structural Defects in Tsc-1-Suppressed Brain. 62
30467464 2018
145
Screening for frailty in community-dwelling elderly subjects: Predictive validity of the modified SEGA instrument. 62
28822918 2017
146
Presurgical Administration of mTOR Inhibitors in Patients with Large Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex. 62
28866062 2017
147
Subependymal Giant Cell Astrocytoma: Associated Hyperproteinorrhachia Causing Shunt Failures and Nonobstructive Hydrocephalus - Report of Successful Treatment with Long-term Follow-up. 62
29114301 2017
148
Response to: S. Sega-Jazbec et al.: "Management of infusion related reactions associated with alemtuzumab in patients with multiple sclerosis" Multiple Sclerosis and Related Disorders 2017. 62
29055453 2017
149
Algorithm-driven optimization of cryopreservation protocols for transfusion model cell types including Jurkat cells and mesenchymal stem cells. 62
27229375 2017
150
A general method for determining molecular interfaces and layers. 62
28668730 2017
151
What are the true volumes of SEGA tumors? Reliability of planimetric and popular semi-automated image segmentation methods. 62
28321524 2017
152
Characterization of gliomas: from morphology to molecules. 62
28674742 2017
153
Treatment of Renal Angiomyolipoma and Other Hamartomas in Patients with Tuberous Sclerosis Complex. 62
28302901 2017
154
Acute Management of Symptomatic Subependymal Giant Cell Astrocytoma With Everolimus. 62
28511812 2017
155
Maintenance therapy with everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis (the EMINENTS study). 62
27860334 2017
156
Causes of mortality in individuals with tuberous sclerosis complex. 62
27935023 2017
157
[Hemorrhagic Onset of Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis:A Case Report and Review of Literature]. 62
28490681 2017
158
[Hereditary tumor syndromes in neuropathology]. 62
28474160 2017
159
Astrocytic tumor with large cells and worrisome features in two patients with tuberous sclerosis: drastically different diagnoses and prognoses. 62
28291513 2017
160
Unique findings of subependymal giant cell astrocytoma within cortical tubers in patients with tuberous sclerosis complex: a histopathological evaluation. 62
28074282 2017
161
Subependymal Giant Cell Astrocytoma Presenting with Tumoral Bleeding: A Case Report. 62
28516078 2017
162
Thyroid transcription factor-1 distinguishes subependymal giant cell astrocytoma from its mimics and supports its cell origin from the progenitor cells in the medial ganglionic eminence. 62
27910945 2017
163
Clinicopathological features and microsurgical outcomes for giant pediatric intracranial tumor in 60 consecutive cases. 62
28180935 2017
164
Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review. 62
28270230 2017
165
Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas. 62
28162859 2017
166
MicroRNA profiling of low-grade glial and glioneuronal tumors shows an independent role for cluster 14q32.31 member miR-487b. 62
27739438 2017
167
Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide. 62
28202028 2017
168
Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study. 62
28792952 2017
169
Implementing a Multidisciplinary Approach to Treating Tuberous Sclerosis Complex: A Case Report. 62
28856172 2017
170
Pilocytic astrocytoma: A rare presentation as intraventricular tumor. 62
28680735 2017
171
CD99: A potential Diagnostic Marker for Differentiating Sub-ependymal Giant Cell Astrocytoma From Other Mimickers: A Report of Five Cases. 62
29531556 2017
172
Some characteristics of gliomas managed at a Neurosurgery centre in Nigeria. 62
28492209 2017
173
Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex. 62
29023494 2017
174
Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study. 62
27809914 2016
175
Subependymal giant cell astrocytoma in a genetically negative tuberous sclerosis complex adult: Case report. 62
27690251 2016
176
Perinatal (fetal and neonatal) astrocytoma: a review. 62
27568373 2016
177
Tuberous sclerosis with infantile spasm and subependymal giant cell astrocytoma. 62
30010299 2016
178
The Role of Molecular Diagnostics in the Management of Patients with Gliomas. 62
27501915 2016
179
Laser interstitial thermal therapy for subependymal giant cell astrocytoma: technical case report. 62
27690646 2016
180
Stereotactic laser ablation for hypothalamic and deep intraventricular lesions. 62
27690656 2016
181
Everolimus treatment among patients with tuberous sclerosis affects serum lipid profile. 62
27423526 2016
182
A New, More Stable Polymorphic Form of Otilonium Bromide: Solubility, Crystal Structure, and Phase Transformation. 62
27444388 2016
183
Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications. 62
27680012 2016
184
Subependymal giant cell astrocytoma: a lesion with activated mTOR pathway and constant expression of glutamine synthetase. 62
27390104 2016
185
Role of mTOR signaling pathway in the pathogenesis of subependymal giant cell astrocytoma - A study of 28 cases. 62
27625244 2016
186
Variability of Dose and Level of Sirolimus in a Patient With Tuberous Sclerosis Complex and Subependymal Giant Cell Astrocytoma. 62
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187
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex. 62
27502586 2016
188
Comprehensive geriatric assessment and comorbidities predict survival in geriatric oncology. 62
27169550 2016
189
Mammalian Target of Rapamycin Inhibitor Induced Complete Remission of a Recurrent Subependymal Giant Cell Astrocytoma in a Patient Without Features of Tuberous Sclerosis Complex. 62
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190
Rapamycin and rapalogs for tuberous sclerosis complex. 62
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191
Magnetic resonance-guided laser interstitial thermal therapy: report of a series of pediatric brain tumors. 62
26849811 2016
192
Management of side effects of mTOR inhibitors in tuberous sclerosis patients. 62
26891243 2016
193
Expression of microRNAs miR21, miR146a, and miR155 in tuberous sclerosis complex cortical tubers and their regulation in human astrocytes and SEGA-derived cell cultures. 62
27014996 2016
194
Safety of Everolimus in Patients Younger than 3 Years of Age: Results from EXIST-1, a Randomized, Controlled Clinical Trial. 62
26858193 2016
195
Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation. 62
27216612 2016
196
The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions. 62
26927950 2016
197
Retraction Note to: Subependymal giant cell astrocytoma: current concepts, management, and future directions. 62
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[External validation of the short emergency geriatric assessment (SEGA) instrument on the SAFES cohort]. 62
27005336 2016
199
Tuberous sclerosis complex coexistent with hippocampal sclerosis. 62
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200
Subependymal giant cell astrocytoma (SEGA): a case report and review of the literature. 62
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201
Association between the growth rate of subependymal giant cell astrocytoma and age in patients with tuberous sclerosis complex. 62
26552385 2016
202
Intraoperative Squash Cytologic Features of Subependymal Giant Cell Astrocytoma. 62
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203
Imaging Manifestations of a Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis. 62
26942030 2016
204
Rare glial tumors. 62
26948368 2016
205
Isolated third ventricle glioblastoma. 62
26885468 2016
206
Combined targeted treatment in early onset epilepsy associated with tuberous sclerosis. 62
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207
Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study. 62
27351628 2016
208
Is mTOR Inhibitor Good Enough for Treatment All Tumors in TSC Patients? 62
27698899 2016
209
Natural History and Current Treatment Options for Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. 62
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210
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. 62
25782670 2015
211
Everolimus for subependymal giant cell astrocytoma: 5-year final analysis. 62
26381530 2015
212
Dose-level response rates of mTor inhibition in tuberous sclerosis complex (TSC) related subependymal giant cell astrocytoma (SEGA). 62
25929843 2015
213
Tuberous sclerosis complex: the past and the future. 62
25533384 2015
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Pathological Findings of a Subependymal Giant Cell Astrocytoma Following Treatment With Rapamycin. 62
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215
Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex. 62
25143481 2015
216
Subependymal giant cell astrocytoma in the absence of tuberous sclerosis complex: case report. 62
25978531 2015
217
Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis. 62
26259610 2015
218
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase. 62
26220190 2015
219
Long-Term Everolimus Treatment in Individuals With Tuberous Sclerosis Complex: A Review of the Current Literature. 62
26092412 2015
220
Thyroid transcription factor-1 and epithelial membrane antigen expression in four cases of subependymal giant cell astrocytoma. 62
25195621 2015
221
Cardiac rhabdomyomas associated with tuberous sclerosis complex in children. From presentation to outcome. 62
24609800 2015
222
Consistent nuclear expression of thyroid transcription factor 1 in subependymal giant cell astrocytomas suggests lineage-restricted histogenesis. 62
25669749 2015
223
Direct medical costs for patients with tuberous sclerosis complex and surgical resection of subependymal giant cell astrocytoma: a US national cohort study. 62
25525770 2015
224
The clinical characteristics of subependymal giant cell astrocytoma: five cases. 62
25977907 2015
225
Use of mTOR inhibitor everolimus in three neonates for treatment of tumors associated with tuberous sclerosis complex. 62
25682485 2015
226
Complications of mammalian target of rapamycin inhibitor anticancer treatment among patients with tuberous sclerosis complex are common and occasionally life-threatening. 62
25719621 2015
227
The burden of subependymal giant cell astrocytomas associated with tuberous sclerosis complex: results of a patient and caregiver survey. 62
24667738 2015
228
Factors affecting response to everolimus therapy for subependymal giant cell astrocytomas associated with tuberous sclerosis. 62
25557360 2015
229
BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. 62
25346165 2015
230
Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy. 62
25591831 2015
231
Erk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma. 62
25909870 2015
232
A note on 'A generalized two-sex logistic model'. 62
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233
[Diagnosis of tuberous sclerosis complex]. 62
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234
Analysis of twenty pediatric cases of tuberous sclerosis complex: are we doing enough? 62
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235
Clinical management of tuberous sclerosis complex over the lifetime of a patient. 62
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[Response to everolimus in patients with giant cell astrocytoma associated to tuberous sclerosis complex]. 62
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237
Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex. 62
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Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. 62
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239
Subependymal giant cell astrocytomas in patients with tuberous sclerosis complex: considerations for surgical or pharmacotherapeutic intervention. 62
24105488 2014
240
Response of subependymal giant cell astrocytoma with spinal cord metastasis to everolimus. 62
24276039 2014
241
Intraocular astrocytoma and its differential diagnosis. 62
25171711 2014
242
An unusually aggressive clinical behavior in a case of atypical subependymal giant cell astrocytoma. 62
25387628 2014
243
Congenital segmental lymphedema in tuberous sclerosis complex with associated subependymal giant cell astrocytomas treated with Mammalian target of rapamycin inhibitors. 62
24056156 2014
244
The Interplay between Different Stability Systems Contributes to Faithful Segregation: Streptococcus pyogenes pSM19035 as a Model. 62
26104212 2014
245
Pleomorphic xanthoastrocytoma in a case of tuberous sclerosis. 62
25002765 2014
246
Genotype/phenotype in tuberous sclerosis complex: associations with clinical and radiologic manifestations. 62
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247
Mitotic activity in subependymal giant cell astrocytoma. 62
23239637 2014
248
Rash to the mTOR inhibitor everolimus: systematic review and meta-analysis. 62
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249
The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1. 62
24729041 2014
250
Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex. 62
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Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients. 62
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252
Adverse event management in patients with advanced cancer receiving oral everolimus: focus on breast cancer. 62
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253
Subependymal giant cell astrocytoma: current concepts, management, and future directions. 62
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254
Everolimus for the treatment of subependymal giant cell astrocytoma probably causing seizure aggravation in a child with tuberous sclerosis complex: a case report. 62
24293099 2014
255
Tuberous sclerosis presenting with hemorrhagic stroke. 62
24825275 2014
256
The ominous sequence in patients with tuberous sclerosis complex. 62
23647917 2014
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Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. 62
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Everolimus. 62
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[Subependymal giant cell astrocytoma associated with tuberous sclerosis complex -  pharmacological treatment using mTOR inhibitors]. 62
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Atypical Bourneville sclerosis without epilepsy and mental retardation: case report and literature review. 62
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261
A management strategy for intraventricular subependymal giant cell astrocytomas in tuberous sclerosis complex. 62
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262
Successful everolimus therapy for SEGA in pediatric patients with tuberous sclerosis complex. 62
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263
Assisting a child with tuberous sclerosis complex (TSC): a qualitative deep analysis of parents' experience and caring needs. 62
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264
Nonsteroidal anti-inflammatory drug induces proinflammatory damage in gastric mucosa through NF-κB activation and neutrophil infiltration: anti-inflammatory role of heme oxygenase-1 against nonsteroidal anti-inflammatory drug. 62
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Subependymal giant cell astrocytoma: diagnosis, screening, and treatment. Recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. 62
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Management of CNS-related Disease Manifestations in Patients With Tuberous Sclerosis Complex. 62
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Imaging findings of intraventricular and ependymal lesions. 62
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Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. 62
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Management of adverse events in patients with hormone receptor-positive breast cancer treated with everolimus: observations from a phase III clinical trial. 62
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Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. 62
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Resection of subependymal giant cell astrocytoma guided by intraoperative magnetic resonance imaging and neuronavigation. 62
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Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. 62
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[A case of tuberous sclerosis complicated by unusually located subependymal giant-cell astrocytoma]. 62
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Subependymal giant cell astrocytoma with atypical clinical and pathological features: a diagnostic pitfall. 62
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Subependymal giant cell astrocytoma with intratumoral hemorrhage. 62
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Subependymal giant cell astrocytoma associated with tuberous sclerosis presenting with intratumoral bleeding. Case report and review of literature. 62
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Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. 62
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Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients. 62
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The outcome of surgical management of subependymal giant cell astrocytoma in tuberous sclerosis complex. 62
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Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. 62
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Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. 62
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Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. 62
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Tuberous sclerosis complex diagnosed from oral lesions. 62
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Practical management of everolimus-related toxicities in patients with advanced solid tumors. 62
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Everolimus and intensive behavioral therapy in an adolescent with tuberous sclerosis complex and severe behavior. 62
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Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. 62
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The molecular biology of WHO grade I astrocytomas. 62
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Subependymal giant cell astrocytoma: Cytological findings. 62
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Neurology: Letter to the editor. Re: Sun P, Kohrman M, Liu J et al. Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. Curr Med Res Opin 2012;28:657-63. 62
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[Pleomorphic xanthoastrocytoma with intraventricular extension and anaplastic transformation in an adult patient: Case report]. 62
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Tuberous sclerosis and epilepsy: role of astrocytes. 62
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Cardiac rhabdomyomas in tuberous sclerosis patients: a case report and review of the literature. 62
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Clinicopathoradiological findings in SEGA: A rare astroglial tumor. 62
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Advances in the management of subependymal giant cell astrocytoma. 62
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mTOR signaling pathway and mTOR inhibitors in cancer therapy. 62
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Molecular therapies for tuberous sclerosis and neurofibromatosis. 62
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Surgical resection of subependymal giant cell astrocytomas (SEGAs) and changes in SEGA-related conditions: a US national claims database study. 62
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Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. 62
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Squash cytology of subependymal giant cell astrocytoma: report of four cases with brief review of literature. 62
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Stereotactic endoscopic resection and surgical management of a subependymal giant cell astrocytoma: case report. 62
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Chromosome segregation in Archaea mediated by a hybrid DNA partition machine. 62
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Everolimus alters white matter diffusion in tuberous sclerosis complex. 62
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Everolimus: in patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex. 62
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Evidence of ambiguous differentiation and mTOR pathway dysregulation in subependymal giant cell astrocytoma. 62
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Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complex. 62
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Tryptamine-gallic acid hybrid prevents non-steroidal anti-inflammatory drug-induced gastropathy: correction of mitochondrial dysfunction and inhibition of apoptosis in gastric mucosal cells. 62
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Hemorrhagic subependymal giant cell astrocytoma in a patient with tuberous sclerosis: case report and review of the literature. 62
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Everolimus tablets for patients with subependymal giant cell astrocytoma. 62
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SEGA: semiglobal graph alignment for structure-based protein comparison. 62
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[Tumors of the lateral ventricle in child: characteristics and specificities]. 62
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[Imaging of lateral ventricle tumors]. 62
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[Pathological aspects of the tumors of the lateral ventricles]. 62
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Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle. 62
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Subependymal Giant Cell Astrocytoma (SEGA) Treatment Update. 62
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Neuroendoscopic management of intraventricular germinoma at the foramen of Monro: case report and review of the literature. 62
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Recurrent meningitis associated with frontal sinus tuber encephalocele in a patient with tuberous sclerosis. 62
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Clinical activity of mammalian target of rapamycin inhibitors in solid tumors. 62
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Gamma Knife surgery for subependymal giant cell astrocytomas. Clinical article. 62
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Subependymal giant cell astrocytoma with oncocytic change. 62
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Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomas. 62
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Enhanced epidermal growth factor, hepatocyte growth factor, and vascular endothelial growth factor expression in tuberous sclerosis complex. 62
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The diagnosis and treatment of subependymal giant cell astrocytoma combined with tuberous sclerosis. 62
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Surgical timing of the subependymal giant cell astrocytoma (SEGA) with the patients of tuberous sclerosis complex. 62
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Nervous system tumors associated with familial tumor syndromes. 62
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Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. 62
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Bulky subependymal giant cell astrocytoma with profuse blood supply without tuberous sclerosis. 62
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Plasmid pSM19035, a model to study stable maintenance in Firmicutes. 62
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Combined intra- and extra-endoscopic techniques for aggressive resection of subependymal giant cell astrocytomas. 62
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[Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients]. 62
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Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. 62
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Basal ganglia location of subependymal giant cell astrocytomas in two infants. 62
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[Intraventricular fibrous tumor: a case report]. 62
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A 2-week efficacy and safety study of gaboxadol and zolpidem using electronic diaries in primary insomnia outpatients. 62
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Fornix damage from solitary subependymal giant cell astrocytoma causing postoperative amnesic syndrome. 62
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Prevalence of subependymal giant cell tumors in patients with tuberous sclerosis and a review of the literature. 62
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Pulsed arterial spin-labeled MR imaging evaluation of tuberous sclerosis. 62
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Retinal ependymoma: an immunohistologic and ultrastructural study. 62
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Subependymal giant cell astrocytoma (SEGA): Is it an astrocytoma? Morphological, immunohistochemical and ultrastructural study. 62
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[Subependymal nodules-sudependymal giant cell astrocytoma complex in children with tuberous sclerosis]. 62
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Lateral ventricle gliomas and central neurocytomas in adults diagnosis and perspectives. 62
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Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells. 62
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Recurrent retroperitoneal hemorrhage in a patient with tuberous sclerosis complex: a case report. 62
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Galectin-3: a useful biomarker for differential diagnosis of brain tumors. 62
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Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. 62
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Outcome analysis of childhood low-grade astrocytomas. 62
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Cytologic features of subependymal giant cell astrocytom: a review of 7 cases. 62
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Subependymal giant cell astrocytoma with intratumoral hemorrhage in the absence of tuberous sclerosis. 62
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Relative expression of mRNAS coding for glutaminase isoforms in CNS tissues and CNS tumors. 62
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Efficacy of the selective extrasynaptic GABA A agonist, gaboxadol, in a model of transient insomnia: a randomized, controlled clinical trial. 62
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Giant cell ependymoma: a case report. 62
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Possible mechanisms of disease development in tuberous sclerosis. 62
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[Case of jugular foramen schwannoma associated with tuberous sclerosis]. 62
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[New hypnotics: perspectives from sleep physiology]. 62
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[Subependymal giant cell astrocytoma in patients with tuberous sclerosis: magnetic resonance imaging findings in ten cases]. 62
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Cytologic characteristics of subependymal giant cell astrocytoma in squash smears: morphometric comparisons with gemistocytic astrocytoma and giant cell glioblastoma. 62
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The selective extrasynaptic GABAA agonist, gaboxadol, improves traditional hypnotic efficacy measures and enhances slow wave activity in a model of transient insomnia. 62
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Secretagogin expression in tumours of the human brain and its coverings. 62
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Distinctive pattern of cannabinoid receptor type II (CB2) expression in adult and pediatric brain tumors. 62
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Gaboxadol, a selective extrasynaptic GABA(A) agonist, does not generalise to other sleep-enhancing drugs: a rat drug discrimination study. 62
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Neonatal subependymal giant cell astrocytoma: new case and review of literature. 62
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Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? 62
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Treating insomnia: Current and investigational pharmacological approaches. 62
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[Clinicopathologic study of subependymal giant cell astrocytoma]. 62
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Subependymal giant cell astrocytoma. 62
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Gradual formation of an operative corridor by balloon dilation for resection of subependymal giant cell astrocytomas in children with tuberous sclerosis: specialized minimal access technique of balloon dilation. 62
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Subependymal giant cell astrocytoma with high choline/creatine ratio on proton MR spectroscopy. 62
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Congenital subependymal giant cell astrocytoma diagnosed on fetal MRI. 62
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Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. 53
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[Neuro-imaging of tuberous sclerosis]. 62
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Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis. 62
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The efficacy of radiation therapy in the management of grade I astrocytomas. 62
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Subependymal giant cell astrocytoma and concordant expression in a disease of variable penetrance. 62
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Immunohistochemical and microscopic studies on giant cells in tuberous sclerosis. 62
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Supratentorial low-grade gliomas. Neuroradiology. 62
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Letter regarding article by Sega et al, "Prognostic value of ambulatory and home blood pressures compared with office blood pressure in the general population". 62
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Letter regarding article by Sega et al, "Prognostic value of ambulatory and home blood pressures compared with office blood pressure in the general population". 62
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Letter regarding article by Sega et al, "Prognostic value of ambulatory and home blood pressures compared with office blood pressure in the general population". 62
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Immunohistochemical study of central neurocytoma, subependymoma, and subependymal giant cell astrocytoma. 62
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Tuberous sclerosis and subependymal giant cell astrocytoma. 62
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Subependymal giant cell astrocytoma: a report of five cases. 62
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[Breast cancer incidence among women of Branicevo region in the period 1991-2000]. 62
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Subependymal giant cell astrocytoma with cranial and spinal metastases in a patient with tuberous sclerosis. Case report. 62
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Subependymal giant cell astrocytoma: a clinicopathological study of 23 cases with special emphasis on proliferative markers and expression of p53 and retinoblastoma gene proteins. 62
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Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis. 53
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[A case of subependymal giant cell astrocytoma not associated with tuberous sclerosis]. 62
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Markers of cellular proliferation are expressed in cortical tubers. 62
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Subependymal giant cell astrocytoma in children with tuberous sclerosis. 62
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Aberrant G protein signaling in nervous system tumors. 53
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No chromosomal imbalances detected by comparative genomic hybridisation in subependymal giant cell astrocytomas. 62
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Neonatal subependymal giant cell astrocytoma. 62
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Rapid regrowth of solitary subependymal giant cell astrocytoma--case report. 62
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Secondary parathyroid hyperplasia in tuberous sclerosis: report of a case with large eosinophilic ganglion-like cells similar to those of subependymal giant cell astrocytoma, tubers, and atypical angiomyolipoma. 62
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Biological behavior and tumorigenesis of subependymal giant cell astrocytomas. 62
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Subependymal giant-cell astrocytoma in tuberous sclerosis: endoscopic images and the implications for therapy. 62
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Supratentorial giant cell ependymoma. 62
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[Tests for loss of heterozygosity in tuberous sclerosis]. 62
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Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases. 62
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Desmoplastic neuroepithelial tumor of infancy in the nevus sebaceus syndrome: report of a unique constellation and review of the literature. 62
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Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. 53
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A subependymal giant cell astrocytoma in a cat. 62
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Definitive classes of childhood supratentorial neuroglial tumors. The Childhood Brain Tumor Consortium. 62
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Testing of fine motor skills in dental students. 62
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Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. 62
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[Subependymal giant cell astrocytoma (tuberous sclerosis)]. 62
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Solitary subependymal giant cell astrocytoma: case report. 62
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Lateral ventricle tumors in children: a series of 54 cases. 62
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Congenital subependymal giant-cell astrocytoma: case report with prenatal ultrasonogram. 62
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Customised gravidogram and fetal growth chart in a South African population. 62
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Tuberous Sclerosis Complex 62
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[Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report]. 62
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The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas. 53
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[Treatment of isolated nocturnal enuresis: alarm or desmopressin?]. 62
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415
Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis. 62
10080228 1999
416
Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. 62
10084537 1999
417
Cytogenetic changes in two cases of subependymal giant-cell astrocytoma. 62
9973956 1999
418
Test and teach. Number ninety one: Part 1. Subependymal giant cell astrocytoma. 62
10212917 1999
419
Image interpretation session: 1998. Tuberous sclerosis with multiple bilateral renal cysts and a subependymal giant cell astrocytoma. 62
10722364 1999
420
Anti-neuronal nuclear autoantibodies, types 1 and 2: their utility in the study of tumors of the nervous system. 62
9796996 1998
421
Glioblastoma following radiotherapy in a patient with tuberous sclerosis. 62
9640965 1998
422
Synaptophysin staining in normal brain: importance for diagnosis of ganglioglioma. 62
9591724 1998
423
Supratentorial giant cell ependymoma: a case report. 62
9578093 1998
424
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. 62
9568761 1998
425
Subependymal giant-cell astrocytoma associated with tuberous sclerosis: case report. 62
9795959 1998
426
The ultrastructure of glial tumors of astrocytic lineage: a review. 62
9833393 1998
427
Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis. 62
9358774 1997
428
[Tuberous sclerosis associated with subependymal giant cell astrocytoma and renal angiomyolipoma: a case report]. 62
9387166 1997
429
[Subependymal tumor with metaplastic bone formation: a case report]. 62
9330400 1997
430
[Immunohistochemical and ultrastructural studies of subependymal giant cell astrocytomas in children with tuberous sclerosis]. 62
9446043 1997
431
Subependymal giant cell astrocytoma: a clinicopathologic study with HMB45 and MIB-1 immunohistochemical analysis. 62
9110292 1997
432
Ultrastructural study of subependymal giant cell astrocytoma: unusual paracrystalloid inclusions in tumour cells. 62
9401412 1997
433
Subependymal giant cell astrocytoma: clinical, histologic and immunohistochemical characteristic of 3 cases. 62
9595853 1997
434
Ultrastructural pathology of glial brain tumors revisited: a review. 62
9029763 1997
435
[Intracerebral tumor calcifications unrecognized by MRI]. 62
9091621 1997
436
Application of magnetization transfer imaging for intracranial lesions of tuberous sclerosis. 62
9022761 1997
437
The relationship between gambling and video-game playing behavior in children and adolescents. 62
24234157 1996
438
Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. 53
8944308 1996
439
Anthropometric measurements and body composition of selected national athletes. 62
22692136 1996
440
Subependymal giant cell astrocytoma associated with tuberous sclerosis: diagnostic and surgical characteristics of five cases with unusual features. 62
8884092 1996
441
Occlusive hydrocephalus complicating tuberous sclerosis: report of two cases. 62
21284778 1996
442
[Hemocirculation and metabolism in intraventricular tumors: kinetic analysis of glucose metabolism]. 62
8851949 1996
443
Residents' corner. Answer to case of the month #35. Bilateral subependymal giant cell astrocytoma associated with tuberous sclerosis. 62
8548472 1996
444
Neonatal diagnosis of tuberous sclerosis. 62
8674081 1996
445
Central nervous system neoplasms: indications for electron microscopy. 62
8789208 1996
446
Magnetic resonance imaging of lateral ventricular tumours. 62
7583723 1995
447
Surgical treatment of intraventricular tumors associated with tuberous sclerosis. 62
7671268 1995
448
[Positron emission tomographic findings of subependymal giant cell astrocytoma developed in tuberous sclerosis--a case report]. 62
7772407 1995
449
Sudden death in epilepsy due to an isolated subependymal giant cell astrocytoma of the septum pellucidum. 62
7771379 1995
450
Hemorrhagic subependymal giant cell astrocytoma. 62
7761172 1995
451
Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron and microscopic study. 62
8546029 1995
452
Immunohistochemical and electron microscopic study of subependymal giant cell astrocytoma. 62
8867692 1995
453
Purification and characterization of the SegA protein of bacteriophage T4, an endonuclease related to proteins encoded by group I introns. 62
7961394 1994
454
Helicobacter pylori infection and fasting serum gastrin levels in a series of endoscopically diagnosed gastric polyps. 62
7826605 1994
455
A neonatal huge subependymal giant cell astrocytoma: case report. 62
7808622 1994
456
[Intratumor hemorrhage in tuberous sclerosis. A case report]. 62
7893224 1994
457
Subependymal giant cell astrocytoma with tuberous sclerosis--case report. 62
7799469 1994
458
[Benign intracranial cysts and certain congenital neoplasms]. 53
8162151 1994
459
Characterization of the effectors required for stable inheritance of Streptococcus pyogenes pSM19035-derived plasmids in Bacillus subtilis. 62
8264532 1993
460
Subependymal giant cell astrocytomas in tuberous sclerosis. 62
8249196 1993
461
Intraventricular fibroma: MR and pathologic comparison. 62
8456735 1993
462
Cytomorphology of subependymal giant cell astrocytoma. A case report. 62
8465641 1993
463
Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. 62
8098856 1993
464
Effects of methyl methanesulfonate on mouse sperm chromatin structure and testicular cell kinetics. 62
8444143 1993
465
Giant cell astrocytoma of the retina in tuberous sclerosis. 62
8337500 1993
466
CT and MR imaging of intracranial tuberous sclerosis. 62
1293181 1992
467
Indoor concentration levels of selected pollutants and household characteristics. 62
1483031 1992
468
Association of epidermal growth factor receptor gene amplification with loss of chromosome 10 in human glioblastoma multiforme. 62
1320666 1992
469
Identification of a family of bacteriophage T4 genes encoding proteins similar to those present in group I introns of fungi and phage. 62
1631169 1992
470
[A case of tuberous sclerosis with congenital brain tumor; an immunohistochemical study]. 62
1591026 1992
471
Cytomorphology of subependymal giant cell astrocytoma. 62
1543002 1992
472
The cystic growth of a subependymal giant-cell astrocytoma with tuberous sclerosis. 62
1405432 1992
473
Anterior lateral ventricular subependymal giant cell astrocytomas. Microsurgical aspects of two cases. 62
1456103 1992
474
Visual loss in tuberous sclerosis. 62
1745348 1991
475
[Massive intratumor hemorrhage in tuberous sclerosis. Autopsy study of a case]. 62
1842197 1991
476
Preferential expression of alpha B-crystallin in astrocytic elements of neuroectodermal tumors. 62
1655207 1991
477
[Oligosymptomatic Bourneville-Pringle tuberous sclerosis of the brain with giant cell astrocytoma]. 62
1757257 1991
478
[Histological diagnosis of brain tumors: (17). Subependymal giant cell astrocytoma]. 62
1891050 1991
479
Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. 62
2067610 1991
480
Management of chiasmal and hypothalamic gliomas of infancy and childhood with chemotherapy. 62
1901597 1991
481
Factor XIIIa in the hamartomas of tuberous sclerosis. 62
1675869 1991
482
Tuberous sclerosis complex: oligosymptomatic variant associated with subependymal giant-cell astrocytoma. 62
1749677 1991
483
[Oligosymptomatic variant of tuberous sclerosis with subependymal giant cell astrocytoma]. 62
2057209 1991
484
[Subependymal giant cell astrocytoma]. 62
1911724 1991
485
Neonatal subependymal giant cell astrocytoma associated with tuberous sclerosis: MRI, CT, and ultrasound correlation. 62
1985277 1991
486
Rare subependymal giant-cell astrocytoma in a neonate with tuberous sclerosis. 62
2124070 1990
487
Subependymal giant cell astrocytoma associated with tuberous sclerosis: with special reference to cell kinetic studies--case report. 62
1708461 1990
488
Measurement of DNA breakage in specific germ-cell stages of male mice exposed to acrylamide, using an alkaline-elution procedure. 62
2392124 1990
489
Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings. 62
2115270 1990
490
Lateral ventricular neoplasms of the brain: differential diagnosis based on clinical, CT, and MR findings. 62
2349896 1990
491
[Histogenesis of subependymal glioma in Bourneville's tuberous sclerosis]. 53
2346568 1990
492
Intraobserver reproducibility in assigning brain tumors to classes in the World Health Organization diagnostic scheme. The Childhood Brain Tumor Consortium. 62
2795117 1989
493
Brain tumours in childhood in Bombay: I: Histopathology showing changing patterns; II: Tissue culture with light and electronmicroscopy, stressing ingestion & degradation of bacteria by glial cells in vitro. 62
2674339 1989
494
[Immunocytochemistry of subependymal giant cell astrocytoma associated with tuberous sclerosis]. 62
2472162 1989
495
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? 62
2702677 1989
496
Tuberous sclerosis in the premature infant: a report of a case with immunohistochemistry on the CNS. 62
2495874 1989
497
Subependymal giant cell astrocytoma diagnosed by CT-guided stereotactic brain biopsy. 62
3058783 1988
498
Subependymal giant-cell astrocytoma. A case report. 62
3218563 1988
499
Reduced thickness of gastric mucosa and retarded progression of chronic gastritis in patients with renal failure. 62
3415844 1988
500
Subependymal giant-cell astrocytoma in children. An unusual discrepancy between histological and clinical features. 62
3286833 1988
501
Tuberous sclerosis: characteristics at CT and MR imaging. 62
3357966 1988
502
The effect of dose fractionation on the frequency of ethylnitrosourea-induced dominant cataract and recessive specific locus mutations in germ cells of the mouse. 62
3352634 1988
503
Measurement of DNA breakage in spermiogenic germ-cell stages of mice exposed to ethylene oxide, using an alkaline elution procedure. 62
3336375 1988
504
Tuberous sclerosis: CT findings and differential diagnosis. 62
3665461 1987
505
[Subependymal giant-cell astrocytoma arising from the trigone of the lateral ventricle. Report of an adult case]. 62
2442643 1987
506
Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis. Case report. 62
3772487 1986
507
Tuberous sclerosis: a neuropathological and immunohistochemical (PAP) study. 62
3545598 1986
508
[Tuberous sclerosis with intraventricular tumor: report of 2 cases]. 62
3808199 1986
509
Subependymoma and unexpected death. 62
3710333 1986
510
Two primary brain tumors in one child. 62
3941785 1986
511
An immunocytochemical comparison of the glia-associated proteins glial fibrillary acidic protein (GFAP) and S-100 protein (S100P) in human brain tumors. 62
3512139 1986
512
The use of alkaline elution procedures to measure DNA damage in spermiogenic stages of mice exposed to methyl methanesulfonate. 62
3753620 1986
513
The association of embryonal tumors originating in the kidney and in the brain. A report of seven cases. 62
6091860 1984
514
Cerebral astrocytic neoplasms in the adult: contribution of histologic examination to the assessment of prognosis. 62
6100972 1984
515
[Tuberous sclerosis. Clinical and computer tomography findings in infancy and childhood]. 62
6727896 1984
516
[Subependymal giant-cell astrocytoma complicated by tuberous sclerosis--a case report]. 62
6468260 1984
517
Subependymal giant cell astrocytoma. Significance and possible cytogenetic implications of an immunohistochemical study. 62
6421081 1984
518
Neuroblastoma, tuberous sclerosis, and subependymal giant cell astrocytoma. 62
6614397 1983
519
Immunocytochemical study of the glial fibrillary acidic protein in human neoplasms of the central nervous system. 62
6281168 1982
520
Paratesticular neuroblastoma associated with subependymal giant cell astrocytoma. 62
7452809 1980
521
Immunohistochemical localization of glial fibrillary acidic protein in human glial neoplasms. 62
6243508 1980
522
Subependymal giant-cell astrocytoma. Case report with ultrastructural study. 62
430139 1979
523
Recurrent subependymal giant-cell astrocytoma in the absence of tuberous sclerosis. Case report. 62
758371 1979

Variations for Subependymal Giant Cell Astrocytoma

ClinVar genetic disease variations for Subependymal Giant Cell Astrocytoma:

5 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1A NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) DEL Uncertain Significance
374437 rs767951499 GRCh37: 19:13409848-13409865
GRCh38: 19:13299034-13299051

Expression for Subependymal Giant Cell Astrocytoma

Search GEO for disease gene expression data for Subependymal Giant Cell Astrocytoma.

Pathways for Subependymal Giant Cell Astrocytoma

Pathways related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(showing 56, show less)
# Super pathways Score Top Affiliating Genes
1 13.84 EIF4EBP1 FKBP1A GFAP MLST8 MTOR NF1
2
Show member pathways
13.38 TSC2 RICTOR NF1 MTOR MLST8 KIAA1549
3
Show member pathways
13.16 EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
4
Show member pathways
13.08 TSC2 RPTOR RICTOR RHEB MTOR MLST8
5
Show member pathways
13.04 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
6
Show member pathways
13.02 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
7 12.84 S100B RICTOR MTOR MLST8 GFAP
8
Show member pathways
12.84 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
9
Show member pathways
12.82 GFAP MLST8 MTOR RHEB RPTOR TSC1
10 12.82 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
11
Show member pathways
12.72 TSC2 RPS6KB1 RHEB NF1 MTOR
12 12.67 SYP S100B NPY NF1 GFAP ENO2
13
Show member pathways
12.63 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
14
Show member pathways
12.4 TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR
15
Show member pathways
12.38 TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
16
Show member pathways
12.32 EIF4EBP1 MTOR RPS6KB1 RPTOR TSC1 TSC2
17
Show member pathways
12.29 TSC2 TSC1 RPTOR RICTOR RHEB MTOR
18
Show member pathways
12.29 TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
19
Show member pathways
12.28 TSC2 RPS6KB1 RHEB MTOR
20
Show member pathways
12.26 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
21
Show member pathways
12.23 CRYAB MLST8 MTOR RPTOR
22 12.23 TSC2 TSC1 RHEB NF1 MTOR
23
Show member pathways
12.2 TSC2 TSC1 RPTOR RHEB MTOR MLST8
24
Show member pathways
12.16 TSC2 RPS6KB1 MTOR EIF4EBP1
25 12.16 EIF4EBP1 MLST8 MTOR RHEB RICTOR RPS6KB1
26
Show member pathways
12.13 TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
27
Show member pathways
12.13 TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
28 12.12 SYP RPTOR RPS6KB1 MTOR
29
Show member pathways
12.1 TSC2 TSC1 RPTOR RPS6KB1 RHEB NF1
30
Show member pathways
12.08 EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
31 12 TSC2 TSC1 RPTOR RHEB MTOR MLST8
32 11.96 TSC2 RPTOR MTOR MLST8
33 11.95 ENO2 MLST8 MTOR RHEB RPTOR TSC1
34 11.94 TSC2 TSC1 TBC1D7 RHEB
35 11.89 MLST8 MTOR NPY RHEB RPS6KB1 RPTOR
36
Show member pathways
11.87 TSC2 RICTOR MTOR MLST8
37 11.85 RPS6KB1 MTOR EIF4EBP1
38 11.82 EIF4EBP1 MLST8 MTOR RPTOR
39 11.81 TSC2 TSC1 RPTOR MTOR MLST8
40 11.79 SYP S100B GFAP
41
Show member pathways
11.76 RICTOR MTOR MLST8
42 11.75 SST NF1 MTOR
43 11.67 EIF4EBP1 FKBP1A MLST8 MTOR RHEB RICTOR
44 11.64 RICTOR MTOR MLST8
45 11.56 MLST8 MTOR RPTOR TSC1 TSC2
46
Show member pathways
11.55 RPTOR MTOR MLST8 CRYAB
47 11.55 RPTOR RPS6KB1 RICTOR MTOR MLST8
48 11.39 TSC2 RPTOR RICTOR RHEB MTOR EIF4EBP1
49 11.36 TSC1 RPTOR MTOR
50 11.31 RICTOR MTOR MLST8
51 11.29 EIF4EBP1 MLST8 MTOR RHEB RICTOR RPS6KB1
52 11.22 MLST8 MTOR RICTOR
53 11.2 TSC2 TSC1 MTOR
54 11.1 RPTOR RPS6KB1 MTOR MLST8 FKBP1A
55 11.08 TSC1 MTOR EIF4EBP1
56
Show member pathways
11 EIF4EBP1 MTOR NF1 RHEB RPS6KB1 RPTOR

GO Terms for Subependymal Giant Cell Astrocytoma

Cellular components related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 TORC2 complex GO:0031932 9.63 RICTOR MTOR MLST8
2 TORC1 complex GO:0031931 9.43 RPTOR MTOR MLST8
3 TSC1-TSC2 complex GO:0033596 9.1 TSC2 TSC1 TBC1D7

Biological processes related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(showing 17, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell growth GO:0030307 10.1 RPTOR RICTOR MTOR MLST8
2 regulation of GTPase activity GO:0043087 10.08 RICTOR NF1 MTOR MLST8
3 negative regulation of autophagy GO:0010507 10.04 RPTOR MTOR MLST8
4 positive regulation of actin filament polymerization GO:0030838 10.03 RICTOR MTOR MLST8
5 oligodendrocyte differentiation GO:0048709 10.02 RHEB NF1 MTOR
6 negative regulation of TOR signaling GO:0032007 10.01 TSC2 TSC1 TBC1D7
7 response to heat GO:0009408 10.01 SST RPS6KB1 MTOR CRYAB
8 positive regulation of glycolytic process GO:0045821 9.93 RPTOR MTOR MLST8
9 response to amino acid GO:0043200 9.91 MTOR RPS6KB1 SST
10 positive regulation of lipid biosynthetic process GO:0046889 9.91 MLST8 MTOR RPTOR
11 positive regulation of TOR signaling GO:0032008 9.86 MLST8 RHEB RICTOR RPTOR
12 cellular response to osmotic stress GO:0071470 9.85 RPTOR MTOR MLST8
13 Schwann cell proliferation GO:0014010 9.83 NF1 GFAP
14 TORC1 signaling GO:0038202 9.8 RPTOR MTOR MLST8
15 cellular response to nutrient levels GO:0031669 9.76 RPTOR RICTOR MTOR MLST8
16 positive regulation of pentose-phosphate shunt GO:1905857 9.43 RPTOR MTOR MLST8
17 TOR signaling GO:0031929 9.36 RPTOR RPS6KB1 RICTOR MTOR MLST8 EIF4EBP1

Molecular functions related to Subependymal Giant Cell Astrocytoma according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase III type 3 promoter sequence-specific DNA binding GO:0001006 9.56 RPTOR MTOR
2 TFIIIC-class transcription factor complex binding GO:0001156 9.46 RPTOR MTOR
3 RNA polymerase III type 2 promoter sequence-specific DNA binding GO:0001003 9.26 RPTOR MTOR
4 RNA polymerase III type 1 promoter sequence-specific DNA binding GO:0001002 8.92 RPTOR MTOR

Sources for Subependymal Giant Cell Astrocytoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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