SEGA
MCID: SBP001
MIFTS: 54

Subependymal Giant Cell Astrocytoma (SEGA) malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Subependymal Giant Cell Astrocytoma

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34MalaCards
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MalaCards: Subependymal Giant Cell Astrocytoma, also known as SEGA, is related to tuberous sclerosis complex and astrocytoma. An important gene associated with Subependymal Giant Cell Astrocytoma is FABP7 (fatty acid binding protein 7, brain), and among its related pathways are FSH signaling pathway and Insulin receptor signalling cascade. The compounds reticulin and eosin have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and spinal cord, and related mouse phenotypes are renal/urinary system and no phenotypic analysis.

Aliases & Classifications for Subependymal Giant Cell Astrocytoma

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 41NCIt, 36MeSH, 59SNOMED-CT, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

subependymal giant cell astrocytoma 9 44 11 50 63
sega 9 44 50
astrocytoma subependymal giant cell 46


External Ids:

Disease Ontology9 DOID:5077
NCIt41 C3696
MeSH36 D001254
SNOMED-CT59 1586004
SNOMED-CT via Orphanet60 449799008, 1586004
UMLS via Orphanet64 C0205768

Related Diseases for Subependymal Giant Cell Astrocytoma

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18GeneCards, 19GeneDecks
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Diseases related to Subependymal Giant Cell Astrocytoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis complex31.8TSC2, TSC1
2astrocytoma31.7S100B, GFAP, TP53, VIM, NES, TSC2
3tuberous sclerosis31.6GFAP, VIM, NES, TSC2, TSC1, MTOR
4angiomyolipoma30.9TSC1, MTOR, TSC2, VIM
5neuroblastoma30.8ENO2, SYP, TP53
6giant cell glioblastoma30.7GFAP
7subependymoma30.7TSC2
8gemistocytic astrocytoma30.7GFAP, S100B
9central neurocytoma30.6MAP2, SYP, GFAP
10retinoblastoma30.3MAP2, GFAP, TP53, MTOR, SYP, ENO2
11lymphedema10.4
12gliomatosis cerebri10.1GFAP
13dysembryoplastic neuroepithelial tumor10.1SYP
14melanotic neuroectodermal tumor10.1SYP
15mixed glioma10.1GFAP
16perivascular epithelioid cell tumor10.1TSC2
17alexander disease10.1GFAP
18medulloepithelioma10.1SYP
19somatostatinoma10.1SST
20cerebral primitive neuroectodermal tumor10.1ENO2
21epulis10.1ENO2
22lymphangioleiomyomatosis10.1TSC2, TSC1
23intestinal disease10.1SST
24pineoblastoma10.1GFAP, SYP
25infantile epileptic encephalopathy10.1TSC1, TSC2
26binswanger's disease10.1GFAP, SYP
27gliosarcoma10.1GFAP
28cystic kidney10.1TSC1, TSC2
29cowden disease10.1TSC2, TSC1
30syringoma10.1S100B, GFAP
31huntington's disease10.1SST, NPY
32gallbladder disease10.1CCK, TSC1
33myxopapillary ependymoma10.1S100B, GFAP
34choroid plexus carcinoma10.1GFAP, S100B
35neurilemmoma10.1GFAP, ENO2
36anaplastic ependymoma10.1GFAP, S100B
37pancreatic islet cell tumors10.1SYP, SST
38endocrine gland cancer10.1SST, SYP
39von hippel-lindau disease10.1NPY, TSC2
40hydrocephalus10.1TSC1, NES
41kidney angiomyolipoma10.1TSC2, MTOR, TSC1
42bulimia nervosa10.1CCK, NPY
43peutz-jeghers syndrome10.1TSC2, TSC1, MTOR
44polycystic kidney disease10.1MTOR, TSC1, TSC2
45polycystic kidney disease, autosomal dominant10.1TSC2, MTOR, TSC1
46temporal lobe epilepsy10.1CALB1, GFAP, NPY
47status epilepticus10.1ENO2, NPY
48rhabdoid meningioma10.1VIM, GFAP
49astroblastoma10.1VIM, GFAP
50kidney cancer10.1MTOR, TP53

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



Diseases related to subependymal giant cell astrocytoma

Symptoms for Subependymal Giant Cell Astrocytoma

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Drugs & Therapeutics for Subependymal Giant Cell Astrocytoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Subependymal Giant Cell Astrocytoma

Genetic Tests for Subependymal Giant Cell Astrocytoma

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Anatomical Context for Subependymal Giant Cell Astrocytoma

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34MalaCards
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MalaCards organs/tissues related to Subependymal Giant Cell Astrocytoma:

34
Skin, Brain, Spinal cord, Testes

Animal Models for Subependymal Giant Cell Astrocytoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Subependymal Giant Cell Astrocytoma:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7TP53, TSC2, TSC1, MTOR, NPY
2MP:00030128.4TP53, FABP7, SST, CCK, MTOR, SYP
3MP:00053808.3TP53, VIM, NES, TSC2, TSC1, MTOR
4MP:00053888.3ENO2, MTOR, TSC1, VIM, TP53
5MP:00053847.6GFAP, TP53, VIM, NES, TSC2, TSC1
6MP:00107687.3GFAP, TP53, VIM, NES, TSC2, TSC1
7MP:00053767.2FABP7, VIM, TP53, GFAP, TSC2, TSC1
8MP:00053787.1GFAP, TP53, VIM, NES, TSC2, TSC1
9MP:00028737.1GFAP, TP53, TSC2, SST, MTOR, SYP
10MP:00053865.2TSC2, FABP7, NES, VIM, TP53, GFAP
11MP:00036314.9NPY, GFAP, TP53, VIM, NES, FABP7

Publications for Subependymal Giant Cell Astrocytoma

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53PubMed
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Articles related to Subependymal Giant Cell Astrocytoma:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
A management strategy for intraventricular subependymal giant cell astrocytomas in tuberous sclerosis complex. (24180681)
2014
2
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (23391693)
2013
3
Subependymal giant cell astrocytoma associated with tuberous sclerosis presenting with intratumoral bleeding. Case report and review of literature. (23138436)
2013
4
Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors. (24056156)
2013
5
Response of Subependymal Giant Cell Astrocytoma With Spinal Cord Metastasis to Everolimus. (24276039)
2013
6
Everolimus for tumor recurrence after surgical resection for subependymal giant cell astrocytoma associated with tuberous sclerosis complex. (22805244)
2013
7
Subependymal giant cell astrocytoma with intratumoral hemorrhage. (23414132)
2013
8
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex. (24143074)
2013
9
Everolimus long-term safety and efficacy in subependymal giant cell astrocytoma. (23325902)
2013
10
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. (23567018)
2013
11
Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis. (22375958)
2012
12
Subependymal giant cell astrocytoma: Cytological findings. (23326038)
2012
13
Squash cytology of subependymal giant cell astrocytoma: report of four cases with brief review of literature. (22431322)
2012
14
Mitotic activity in subependymal giant cell astrocytoma. (23239637)
2012
15
Everolimus tablets for patients with subependymal giant cell astrocytoma. (21806479)
2011
16
Potential of mTOR inhibitors for the treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex. (21415462)
2011
17
Bulky subependymal giant cell astrocytoma with profuse blood supply without tuberous sclerosis. (20956931)
2010
18
Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. (20887114)
2010
19
Subependymal giant cell astrocytoma with intratumoral hemorrhage in the absence of tuberous sclerosis. (18395450)
2008
20
Neonatal subependymal giant cell astrocytoma: new case and review of literature. (17275668)
2007
21
Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomas. (17071037)
2007
22
Cytologic characteristics of subependymal giant cell astrocytoma in squash smears: morphometric comparisons with gemistocytic astrocytoma and giant cell glioblastoma. (17536538)
2007
23
Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex. (15851742)
2005
24
A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. (16237225)
2005
25
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. (15624760)
2004
26
Subependymal giant cell astrocytoma with positive tuberin expression--case report. (14723270)
2003
27
Rapid regrowth of solitary subependymal giant cell astrocytoma--case report. (12064158)
2002
28
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. (11812950)
2002
29
Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases. (11322123)
2001
30
Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. (10671130)
2000
31
Subependymal giant cell astrocytoma associated with tuberous sclerosis exhibiting rapid regrowth after 17 years: a case report]. (10396738)
1999
32
Image interpretation session: 1998. Tuberous sclerosis with multiple bilateral renal cysts and a subependymal giant cell astrocytoma. (10722364)
1999
33
Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. (9568761)
1998
34
Subependymal giant-cell astrocytoma associated with tuberous sclerosis: case report. (9795959)
1998
35
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. (9403714)
1997
36
Immunohistochemical characterization of subependymal giant cell astrocytomas. (8928613)
1996
37
Hemorrhagic subependymal giant cell astrocytoma. (7761172)
1995
38
Immunohistochemical and electron microscopic study of subependymal giant cell astrocytoma. (8867692)
1995
39
A neonatal huge subependymal giant cell astrocytoma: case report. (7808622)
1994
40
Cytomorphology of subependymal giant cell astrocytoma. A case report. (8465641)
1993
41
The cystic growth of a subependymal giant-cell astrocytoma with tuberous sclerosis. (1405432)
1992
42
Tuberous sclerosis complex: oligosymptomatic variant associated with subependymal giant-cell astrocytoma. (1749677)
1991
43
Clinical and immunohistochemical studies of subependymal giant cell astrocytomas associated with tuberous sclerosis. (1705105)
1990
44
Rare subependymal giant-cell astrocytoma in a neonate with tuberous sclerosis. (2124070)
1990
45
Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow? (2702677)
1989
46
Subependymal giant-cell astrocytoma in children. An unusual discrepancy between histological and clinical features. (3286833)
1988
47
Subependymal giant-cell astrocytoma. A case report. (3218563)
1988
48
Paratesticular neuroblastoma associated with subependymal giant cell astrocytoma. (7452809)
1980
49
Subependymal giant-cell astrocytoma. Case report with ultrastructural study. (430139)
1979
50
Recurrent subependymal giant-cell astrocytoma in the absence of tuberous sclerosis. Case report. (758371)
1979

Variations for Subependymal Giant Cell Astrocytoma

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Expression for genes affiliated with Subependymal Giant Cell Astrocytoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Subependymal Giant Cell Astrocytoma

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

Pathways for genes affiliated with Subependymal Giant Cell Astrocytoma

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 5Cell Signaling Technology, 54QIAGEN, 61Thomson Reuters, 13EMD Millipore, 55R&D Systems
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Pathways related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9TSC2, MTOR
2
Show member pathways
9.7MTOR, TSC2, TSC1
3
Show member pathways
mTOR signaling pathway39
9.7TSC2, MTOR, TSC1
49.7MTOR, TSC1, TSC2
59.7TSC2, TSC1, MTOR
69.4TSC1, TSC2, TP53
7
Show member pathways
Signal transduction PTEN pathway61
9.3MTOR, TSC2, TP53
89.3MTOR, TSC2, TP53
9
Show member pathways
9.2TSC2, S100B, GFAP, MTOR
109.1VIM, TP53, GFAP
11
Show member pathways
Signaling Pathways in Glioblastoma39
9.0TSC2, TSC1, MTOR, TP53
129.0TP53, TSC2, TSC1, MTOR
139.0TP53, TSC2, TSC1, MTOR
149.0TP53, TSC2, TSC1, MTOR
15
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.0TP53, TSC2, MTOR, TSC1
16
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
9.0MTOR, TSC1, TSC2, TP53
179.0MTOR, TP53, TSC2, TSC1
18
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
9.0MAP2, MTOR, TP53
19
Show member pathways
Cytoskeleton remodeling Neurofilaments61
9.0VIM, NES, MAP2, GFAP
20
Show member pathways
8.6TP53, GFAP, TSC1, VIM, TSC2
218.5TSC2, TSC1, MTOR, MAP2, TP53
22
Show member pathways
7.4TSC2, TSC1, GFAP, SST, CCK, MTOR
237.1CALB1, GFAP, SYP, MAP2, S100B, ENO2

Compounds for genes affiliated with Subependymal Giant Cell Astrocytoma

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46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1reticulin469.4GFAP, VIM, SYP, S100B
2eosin469.4S100B, GFAP, VIM
3spec-t469.3ENO2, SST, TSC1, GFAP
4n-acetylaspartate469.2GFAP, SYP, CALB1
5streptozotocin469.0SYP, NES, VIM, GFAP, SST, NPY
6s 100468.9GFAP, VIM, SYP, S100B, ENO2
7catecholamine468.7VIM, SYP, ENO2, NPY, S100B
8ganglioside468.6SYP, ENO2, GFAP, VIM, NES, MAP2
9vinblastine46 52 1210.5MAP2, SST, VIM, TP53, NPY
10tetrodotoxin46 62 3010.5CALB1, GFAP, CCK, ENO2, NPY
11cocaine46 129.5VIM, CCK, MAP2, NPY, S100B, GFAP
12methamphetamine46 52 1210.5CALB1, GFAP, MAP2, NPY
13kainate46 309.4NPY, GFAP, NES, SYP, MAP2, CALB1
14hematoxylin468.4S100B, MAP2, SYP, VIM, GFAP, ENO2
15dbc-amp468.4ENO2, S100B, MAP2, SYP, VIM, GFAP
16acth468.4S100B, GFAP, CCK, SYP, ENO2, NPY
17silver468.3SYP, ENO2, GFAP, CALB1, MAP2
18l-amino acid468.3SYP, S100B, ENO2, MAP2, CALB1
19leucine468.2SYP, ENO2, S100B, MTOR, TSC2, VIM
20glutamine468.2S100B, GFAP, VIM, CCK, SYP, ENO2
21dmso468.2NES, NPY, ENO2, VIM, MAP2
22lactate468.0ENO2, NPY, SST, S100B, GFAP, VIM
23formaldehyde46 258.8NPY, CALB1, SYP, GFAP, VIM, ENO2
24potassium46 25 129.8ENO2, CALB1, MAP2, GFAP, SYP, S100B
25lipid467.7MTOR, NES, ENO2, GFAP, TSC2, SYP
26nmda46 308.7SYP, ENO2, NPY, CALB1, MAP2, VIM
27bromodeoxyuridine467.7S100B, ENO2, CALB1, NES, VIM, GFAP
28glycogen46 258.6SYP, MTOR, TSC1, TSC2, VIM, GFAP
295-hydroxytryptamine467.5SST, CCK, GFAP, NPY, ENO2, CALB1
30arginine467.5MTOR, CCK, S100B, TP53, GFAP, VIM
31progesterone46 30 62 25 1211.5VIM, GFAP, ENO2, S100B, MAP2, SYP
32adenylate467.4SST, NPY, S100B, GFAP, VIM, MAP2
33forskolin46 52 129.4GFAP, VIM, NPY, ENO2, S100B, CALB1
34nitric oxide46 25 129.4NES, NPY, MAP2, CALB1, S100B, SYP
35norepinephrine46 25 129.3ENO2, MAP2, SYP, CCK, NPY, CALB1
36serine467.2VIM, TSC2, S100B, TP53, GFAP, MAP2
37dexamethasone46 52 30 1210.0MTOR, SYP, VIM, CALB1, S100B, ENO2
38atp46 307.9NPY, ENO2, CALB1, MTOR, VIM, GFAP
39acetylcholine46 52 30 25 1210.9SST, CCK, NES, VIM, GFAP, NPY
40dopamine46 30 25 129.8S100B, CCK, NPY, GFAP, NES, SST
41paraffin466.8NPY, ENO2, S100B, MAP2, SYP, TSC1
42choline46 25 128.8S100B, ENO2, NPY, CALB1, MAP2, SYP
43vegf466.4ENO2, S100B, MAP2, SYP, MTOR, SST
44tyrosine466.3ENO2, TSC1, NPY, S100B, CALB1, CCK
45glucose466.3GFAP, NES, TSC2, TSC1, SST, CCK
46glutamate466.2NPY, ENO2, S100B, CALB1, MAP2, SYP
47gaba466.2SYP, MAP2, CALB1, S100B, ENO2, NPY
48testosterone46 62 25 129.0S100B, CALB1, MAP2, SYP, MTOR, CCK
49estrogen465.9NPY, ENO2, S100B, CALB1, MAP2, SYP
50retinoic acid46 256.2S100B, CALB1, MAP2, SYP, MTOR, CCK

GO Terms for genes affiliated with Subependymal Giant Cell Astrocytoma

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17Gene Ontology
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Cellular components related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.0TSC2, TSC1
2intermediate filamentGO:0058829.2GFAP, VIM, NES
3extracellular spaceGO:0056158.5NPY, ENO2, S100B, CCK, SST
4neuronal cell bodyGO:0430258.0S100B, FABP7, TSC2, SST, MAP2, CALB1
5cytoplasmGO:0057377.0GFAP, TP53, VIM, NES, FABP7, TSC2
6cytosolGO:0058296.9GFAP, TP53, VIM, TSC2, TSC1, MTOR

Biological processes related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:03200710.1TSC1, TSC2
2Bergmann glial cell differentiationGO:06002010.1VIM, GFAP
3astrocyte developmentGO:01400210.0VIM, GFAP
4intermediate filament organizationGO:04510910.0GFAP, VIM
5negative regulation of cell sizeGO:04579210.0MTOR, TSC1, TSC2
6regulation of protein kinase activityGO:04585910.0MTOR, TSC1
7regulation of neuronal synaptic plasticityGO:04816810.0S100B, SYP
8central nervous system neuron developmentGO:0219549.9MAP2, NPY
9long-term synaptic potentiationGO:0602919.8GFAP, S100B
10insulin receptor signaling pathwayGO:0082869.8TSC2, TSC1, MTOR
11negative regulation of neuron projection developmentGO:0109779.8VIM, GFAP
12positive regulation of protein oligomerizationGO:0324619.7CCK, TP53
13cell cycle arrestGO:0070509.5TSC1, TSC2, TP53
14response to amino acidGO:0432009.5MTOR, SST
15axonogenesisGO:0074099.5S100B, MAP2, CCK
16positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.5TP53, CCK, MTOR
17central nervous system developmentGO:0074179.4S100B, NES, TP53
18cellular response to hypoxiaGO:0714569.4TP53, MTOR, S100B
19release of cytochrome c from mitochondriaGO:0018369.4CCK, TP53
20cellular response to organic substanceGO:0713109.2CALB1, MAP2, SYP
21negative regulation of cell proliferationGO:0082859.1TP53, FABP7, TSC2, TSC1, SST

Molecular functions related to Subependymal Giant Cell Astrocytoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuropeptide hormone activityGO:0051849.8NPY, CCK
2identical protein bindingGO:0428028.4S100B, SYP, VIM, TP53

Products for genes affiliated with Subependymal Giant Cell Astrocytoma

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Sources for Subependymal Giant Cell Astrocytoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet