MCID: TBR022
MIFTS: 51

Tuberous Sclerosis Complex malady

Genetic diseases (common) category
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Summaries for Tuberous Sclerosis Complex

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21Genetics Home Reference, 19GeneReviews, 33MalaCards
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Fully expand this MalaCard
Genetics Home Reference:21 Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.

MalaCards: Tuberous Sclerosis Complex, also known as bourneville disease, is related to tuberous sclerosis and lymphangioleiomyomatosis. An important gene associated with Tuberous Sclerosis Complex is TSC2 (tuberous sclerosis 2), and among its related pathways are PI3K / Akt Signaling and Nanog in Mammalian ESC Pluripotency. The compounds guanosine and 2-deoxyglucose have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and cortex, and related mouse phenotypes are tumorigenesis and renal/urinary system.

GeneReviews summary for tuberous-sclerosis

Aliases & Classifications for Tuberous Sclerosis Complex

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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

tuberous sclerosis complex 19 20 21
bourneville disease 19 21
bourneville phakomatosis 21
cerebral sclerosis 21
sclerosis tuberosa 21
tuberose sclerosis 21
tuberous sclerosis 62
epiloia 21


Related Diseases for Tuberous Sclerosis Complex

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17GeneCards, 18GeneDecks
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Diseases related to Tuberous Sclerosis Complex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis32.2RPS6KB1, MTOR, CCL26, TSC1, TSC2
2lymphangioleiomyomatosis31.5TSC2, TSC1
3subependymal giant cell astrocytoma31.3MTOR, TSC1, TSC2
4angiomyolipoma31.3MTOR, CCL26, TSC1, TSC2
5neurofibromatosis30.9TSC2, TSC1
6polycystic kidney disease30.5MTOR, TSC2
7mental retardation30.5TSC2, TSC1, CCL26, MTOR, NTF4
8pneumothorax30.3FLCN, TSC1
9autistic disorder30.3TSC2, TSC1
10kidney angiomyolipoma30.3TSC2, TSC1, MTOR
11peutz-jeghers syndrome30.3MTOR, TSC1, TSC2
12adenocarcinoma30.2TSC2, TSC1, CCL26, RPS6KB1
13kidney cancer30.2FLCN, MTOR
14astrocytoma11.0
15cerebritis10.6
16hepatitis10.6
17giant cell tumor10.5
18pancreatitis10.5
19aneurysm10.5
20renal cell carcinoma10.5
21hemimegalencephaly10.5
22intracranial aneurysm10.4
23fibroma10.4
24neuronitis10.4
25chordoma10.4
26kidney disease10.4
27retinitis10.4
28blindness10.4
29end stage renal failure10.3
30hepatic angiomyolipoma10.3
31arachnoiditis10.3
32autism spectrum disorder10.3
33lymphedema10.3
34melanoma10.3
35neuroendocrine tumor10.3
36sleep disorder10.3
37arachnoid cysts10.3
38endotheliitis10.3
39adrenoleukodystrophy10.2
40metachromatic leukodystrophy10.2
41attention deficit hyperactivity disorder10.2
42hepatitis c10.2
43wolff-parkinson-white syndrome10.2
44rett syndrome10.2
45pulmonary edema10.2
46carpal tunnel syndrome10.2
47west syndrome10.2
48pericoronitis10.2
49von hippel-lindau disease10.2
50acne10.2

Graphical network of the top 20 diseases related to Tuberous Sclerosis Complex:



Diseases related to tuberous sclerosis complex

Symptoms for Tuberous Sclerosis Complex

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Drugs & Therapeutics for Tuberous Sclerosis Complex

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Tuberous Sclerosis Complex

Search NIH Clinical Center for Tuberous Sclerosis Complex

Genetic Tests for Tuberous Sclerosis Complex

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20GeneTests
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Genetic tests related to Tuberous Sclerosis Complex:

id Genetic test Affiliating Genes
1 Tuberous Sclerosis Complex20 TSC2

Anatomical Context for Tuberous Sclerosis Complex

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33MalaCards
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MalaCards organs/tissues related to Tuberous Sclerosis Complex:

33
Brain, Kidney, Cortex, Bone, Skin, T cells, Fetal brain, Lung, Liver, Endothelial, Adipocyte, Prostate, Smooth muscle, Testes, Eye, Caudate nucleus

Animal Models for Tuberous Sclerosis Complex or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Tuberous Sclerosis Complex:

37 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8RPS6KB1, TSC1, TSC2, FLCN
2MP:00053678.3MTOR, TSC1, TSC2, FLCN
3MP:00053858.2FLCN, DUSP6, TSC2, TSC1, RPS6KB1
4MP:00053868.1SLC2A2, NTF4, MTOR, TSC1, TSC2
5MP:00053808.0FLCN, TSC2, TSC1, MTOR, RPS6KB1
6MP:00053698.0DUSP6, TSC1, MTOR, RPS6KB1, SLC2A2
7MP:00053977.4FLCN, DUSP6, TSC2, MTOR, RPS6KB1
8MP:00053767.0FLCN, DUSP6, TSC2, TSC1, MTOR, RPS6KB1
9MP:00053846.7SLC2A2, FLCN, DUSP6, TSC2, TSC1, MTOR
10MP:00053786.7FLCN, DUSP6, TSC2, TSC1, MTOR, NTF4
11MP:00107686.7FLCN, DUSP6, TSC2, TSC1, MTOR, NTF4

Publications for Tuberous Sclerosis Complex

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52PubMed
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Articles related to Tuberous Sclerosis Complex:

(show top 50)    (show all 607)
idTitleAuthorsYear
1
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation. (22805177)
2013
2
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex. (24271014)
2013
3
The ability of high field strength 7-T magnetic resonance imaging to reveal previously uncharacterized brain lesions in patients with tuberous sclerosis complex. (23289918)
2013
4
Hepatitis C virus inhibits AKT-tuberous sclerosis complex (TSC), the mechanistic target of rapamycin (MTOR) pathway, through endoplasmic reticulum stress to induce autophagy. (23169238)
2013
5
Commentary on: everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. (23642941)
2013
6
Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): Clinical recommendations. (23391693)
2013
7
Mammalian target of rapamycin complex 1 (mTORC1) enhances bortezomib-induced death in tuberous sclerosis complex (TSC)-null cells by a c-MYC-dependent induction of the unfolded protein response. (23612979)
2013
8
Pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (TSC2) mutation. (23757617)
2013
9
Arachnoid cysts in tuberous sclerosis complex. (24325802)
2013
10
Congenital Segmental Lymphedema in Tuberous Sclerosis Complex With Associated Subependymal Giant Cell Astrocytomas Treated with Mammalian Target of Rapamycin Inhibitors. (24056156)
2013
11
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. (24053983)
2013
12
Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex. (21889982)
2012
13
Testicular cancer and the tuberous sclerosis complex. (21767201)
2012
14
Increased expression of matrix metalloproteinase 9 in cortical lesions from patients with focal cortical dysplasia type IIb and tuberous sclerosis complex. (22459050)
2012
15
Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. (21266383)
2011
16
Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. (21692602)
2011
17
Neuropsychological attention skills and related behaviours in adults with tuberous sclerosis complex. (21191642)
2011
18
Tuberous sclerosis complex renal disease. (21071977)
2011
19
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. (21507691)
2011
20
Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. (22025691)
2011
21
Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. (19369101)
2010
22
Brain lesions in tuberous sclerosis complex. Review. (20924998)
2010
23
Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex. (20108343)
2010
24
Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex. (19606448)
2009
25
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. (19419980)
2009
26
Prenatal molecular diagnosis of tuberous sclerosis complex. (19254590)
2009
27
Role of mutational analysis in diagnosis of tuberous sclerosis complex. (19250385)
2009
28
Prevalence of tuberous sclerosis complex in Taiwan: a national population-based study. (19887839)
2009
29
Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse. (19150975)
2009
30
Epilepsy surgery and tuberous sclerosis complex: special considerations. (18759614)
2008
31
Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. (18350576)
2008
32
Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. (17727667)
2008
33
Behavior problems in children with tuberous sclerosis complex and parental stress. (18602868)
2008
34
Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell type. (18368626)
2008
35
Tuberous sclerosis complex: a tale of two genes. (18347312)
2008
36
The correlation between 1H-MR spectroscopy and clinical manifestation with tuberous sclerosis complex. (17985261)
2007
37
The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. (17556368)
2007
38
Selective inhibition of growth of tuberous sclerosis complex 2 null cells by atorvastatin is associated with impaired Rheb and Rho GTPase function and reduced mTOR/S6 kinase activity. (17942919)
2007
39
The tuberous sclerosis complex. (17205616)
2007
40
Tuberous sclerosis complex]. (17435807)
2007
41
A defect in protein farnesylation suppresses a loss of Schizosaccharomyces pombe tsc2+, a homolog of the human gene predisposing to tuberous sclerosis complex. (16624901)
2006
42
The diverse clinical manifestations of tuberous sclerosis complex: a review. (16818173)
2006
43
An adolescent girl with tuberous sclerosis complex and acne. (16783975)
2006
44
Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. (14871804)
2004
45
Tuberous sclerosis complex: from Drosophila to human disease. (15102439)
2004
46
14-3-3beta binds to and negatively regulates the tuberous sclerosis complex 2 (TSC2) tumor suppressor gene product, tuberin. (12468542)
2003
47
Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner. (12842888)
2003
48
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. (12015165)
2002
49
Mutational analysis of the von hippel lindau gene in clear cell renal carcinomas from tuberous sclerosis complex patients. (11904337)
2002
50
Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. (9132502)
1997

Variations for Tuberous Sclerosis Complex

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Tuberous Sclerosis Complex:

1 (show all 22)
id Gene Name Type Significance SNP ID Assembly Location
1TSC2NM_000548.3(TSC2): c.4642delC (p.Leu1548Cysfs)deletionPathogenicrs137854083GRCh37Chr 16, 2135303: 2135303
2TSC2NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu)single nucleotide variantPathogenicrs45483392GRCh37Chr 16, 2137898: 2137898
3TSC2NM_000548.3(TSC2): c.34A> T (p.Lys12Ter)single nucleotide variantPathogenicrs45512692GRCh37Chr 16, 2098650: 2098650
4TSC2NM_000548.3(TSC2): c.2056_2059dupTACT (p.Ser687Leufs)duplicationPathogenicrs137854337GRCh37Chr 16, 2121894: 2121897
5TSC2NM_000548.3(TSC2): c.1513C> T (p.Arg505Ter)single nucleotide variantPathogenicrs45517179GRCh37Chr 16, 2114342: 2114342
6TSC2NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln)single nucleotide variantPathogenic, otherrs28934872GRCh37Chr 16, 2120572: 2120572
7TSC2NM_000548.3(TSC2): c.2150T> G (p.Leu717Arg)single nucleotide variantPathogenicrs45517214GRCh37Chr 16, 2122294: 2122294
8TSC2NM_000548.3(TSC2): c.1432C> T (p.Gln478Ter)single nucleotide variantPathogenicrs121964862GRCh37Chr 16, 2113043: 2113043
9TSC2NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro)single nucleotide variantPathogenicrs45516293GRCh37Chr 16, 2134966: 2134966
10TSC2NM_000548.3(TSC2): c.5238_5255del18 (p.His1746_Arg1751del)deletionPathogenicrs137854225GRCh37Chr 16, 2138305: 2138322
11TSC2NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln)single nucleotide variantPathogenicrs45517259GRCh37Chr 16, 2126143: 2126143
12TSC2NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
13TSC2NM_000548.3(TSC2): c.2713C> G (p.Arg905Gly)single nucleotide variantPathogenicrs45517258GRCh37Chr 16, 2126142: 2126142
14TSC2NM_000548.3(TSC2): c.1322G> A (p.Trp441Ter)single nucleotide variantPathogenicrs45515894GRCh37Chr 16, 2112562: 2112562
15TSC1NM_000368.4(TSC1): c.1888_1891delAAAG (p.Lys630Glnfs)deletionPathogenicrs118203595GRCh37Chr 9, 135781074: 135781077
16TSC1NM_000368.4(TSC1): c.749T> A (p.Leu250Ter)single nucleotide variantPathogenicrs118203447GRCh37Chr 9, 135787833: 135787833
17TSC1NM_000368.4(TSC1): c.1760A> G (p.Lys587Arg)single nucleotide variantBenign, Pathogenicrs118203576GRCh37Chr 9, 135781205: 135781205
18TSC1NM_000368.4(TSC1): c.1904_1905delCA (p.Thr635Argfs)deletionPathogenicrs118203598GRCh37Chr 9, 135781060: 135781061
19TSC1NM_000368.4(TSC1): c.1671_1693del23 (p.Ser561Argfs)deletionPathogenicrs118203557GRCh37Chr 9, 135781272: 135781294
20TSC1NM_000368.4(TSC1): c.2194C> T (p.His732Tyr)single nucleotide variantBenign, Likely benign, Pathogenicrs118203657GRCh37Chr 9, 135779052: 135779052
21TSC1NM_000368.4(TSC1): c.671T> G (p.Met224Arg)single nucleotide variantPathogenicrs118203426GRCh37Chr 9, 135796816: 135796816
22TSC1NM_000368.4(TSC1): c.539T> C (p.Leu180Pro)single nucleotide variantPathogenicrs118203396GRCh37Chr 9, 135797330: 135797330

Expression for genes affiliated with Tuberous Sclerosis Complex

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tuberous Sclerosis Complex

Search GEO for disease gene expression data for Tuberous Sclerosis Complex.

Pathways for genes affiliated with Tuberous Sclerosis Complex

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Sources:
50PathCards, 5Cell Signaling Technology, 53QIAGEN, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 60Thomson Reuters, 55Reactome, 12EMD Millipore, 54R&D Systems
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Pathways related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 34)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TSC1, TSC2
2
Show member pathways
9.4RPS6KB1, TSC1, TSC2
39.4TSC2, TSC1, RPS6KB1
4
Show member pathways
9.4TSC2, TSC1, RPS6KB1
5
Show member pathways
9.4TSC2, TSC1, RPS6KB1
6
Show member pathways
IL2 signaling events mediated by STAT538
9.2RPS6KB1, MTOR
79.2MTOR, RPS6KB1
89.2RPS6KB1, MTOR
9
Show member pathways
9.1SLC2A2, MTOR
10
Show member pathways
Signaling Pathways in Glioblastoma38
9.0MTOR, TSC1, TSC2
119.0MTOR, TSC1, TSC2
12
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.0MTOR, TSC1, TSC2
139.0MTOR, TSC1, TSC2
14
Show member pathways
9.0TSC2, TSC1, CCL26, RPS6KB1
15
Show member pathways
Signal transduction PTEN pathway60
8.9RPS6KB1, MTOR, TSC2
168.9RPS6KB1, MTOR, TSC2
178.9RPS6KB1, MTOR, TSC2
18
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
8.9RPS6KB1, MTOR, TSC2
19
Show member pathways
Cytoskeleton remodeling FAK signaling60
Development Endothelin 1 EDNRA transactivation of EGFR60
8.9TSC2, MTOR, RPS6KB1
20
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors60
8.9TSC2, MTOR, RPS6KB1
21
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
8.9TSC2, MTOR, RPS6KB1
228.8CCL26, MTOR, RPS6KB1
23
Show member pathways
8.8DUSP6, TSC2, MTOR
24
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
8.7MTOR, RPS6KB1, SLC2A2
258.5RPS6KB1, MTOR, TSC1, TSC2
26
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
8.5RPS6KB1, MTOR, TSC1, TSC2
278.5RPS6KB1, MTOR, TSC1, TSC2
28
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.5RPS6KB1, MTOR, TSC1, TSC2
298.5TSC2, TSC1, MTOR, RPS6KB1
30
Show member pathways
mTOR signaling pathway38
8.5TSC2, TSC1, MTOR, RPS6KB1
318.5TSC2, TSC1, MTOR, RPS6KB1
32
Show member pathways
8.5TSC2, TSC1, MTOR, RPS6KB1
33
Show member pathways
8.0RPS6KB1, MTOR, TSC1, TSC2, DUSP6
347.9RPS6KB1, MTOR, TSC1, TSC2, FLCN

Compounds for genes affiliated with Tuberous Sclerosis Complex

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Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 51PharmGKB
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Compounds related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1guanosine45 24 1111.5TSC1, TSC2
22-deoxyglucose45 1110.5SLC2A2, RPS6KB1
3phenylephrine45 29 24 1112.5RPS6KB1, DUSP6
4paraffin459.4SLC2A2, TSC1, TSC2
5aicar45 24 1111.4RPS6KB1, MTOR
6okadaic acid45 6110.2RPS6KB1, MTOR, TSC2
7forskolin45 51 1111.2NTF4, RPS6KB1, SLC2A2
8ly294002459.1RPS6KB1, MTOR, TSC2
9wortmannin459.1TSC2, MTOR, RPS6KB1
10everolimus45 51 1110.9RPS6KB1, MTOR, TSC1, TSC2
11phosphoinositide458.9TSC2, TSC1, MTOR, RPS6KB1
12vegf458.8TSC2, TSC1, MTOR, RPS6KB1
13threonine458.8TSC2, TSC1, MTOR, RPS6KB1
14cisplatin45 51 61 1111.7MTOR, NTF4, RPS6KB1
15pd 98,059458.7RPS6KB1, MTOR, TSC1, DUSP6
16leucine458.7TSC2, MTOR, RPS6KB1, SLC2A2
17arginine458.7SLC2A2, NTF4, MTOR, TSC2
18phosphatidylinositol458.5TSC2, TSC1, MTOR, NTF4, RPS6KB1
19serine458.4TSC2, TSC1, MTOR, NTF4, RPS6KB1
20glycogen45 249.4TSC2, TSC1, MTOR, RPS6KB1, SLC2A2
21glucose458.3TSC2, TSC1, MTOR, RPS6KB1, SLC2A2
22oxygen45 249.3DUSP6, TSC2, CCL26, MTOR, RPS6KB1
23atp45 299.3SLC2A2, RPS6KB1, MTOR, CCL26, TSC2
24calcium45 51 24 1111.0DUSP6, CCL26, MTOR, NTF4, RPS6KB1
25tyrosine457.9DUSP6, TSC2, TSC1, MTOR, NTF4, RPS6KB1
26rapamycin457.9FLCN, TSC2, TSC1, CCL26, MTOR, RPS6KB1

GO Terms for genes affiliated with Tuberous Sclerosis Complex

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Sources:
16Gene Ontology
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Cellular components related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:0335969.8TSC1, TSC2
2membraneGO:0160208.2TSC2, TSC1, MTOR, SLC2A2
3cytosolGO:0058298.0RPS6KB1, MTOR, TSC1, TSC2, DUSP6
4cytoplasmGO:0057376.8FLCN, DUSP6, TSC2, TSC1, MTOR, RPS6KB1

Biological processes related to Tuberous Sclerosis Complex according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cell projection organizationGO:03003010.0TSC1, TSC2
2protein kinase B signalingGO:0434919.9TSC2, RPS6KB1
3long-term memoryGO:0076169.9RPS6KB1, NTF4
4protein heterooligomerizationGO:0512919.8TSC1, TSC2
5negative regulation of protein kinase B signalingGO:0518989.8TSC2, FLCN
6regulation of protein kinase activityGO:0458599.6TSC1, MTOR
7negative regulation of ERK1 and ERK2 cascadeGO:0703739.6FLCN, DUSP6
8neural tube closureGO:0018439.5TSC1, TSC2
9negative regulation of TOR signalingGO:0320079.5TSC1, TSC2, FLCN
10positive regulation of actin filament polymerizationGO:0308389.4CCL26, MTOR
11germ cell developmentGO:0072819.3RPS6KB1, MTOR
12negative regulation of cell sizeGO:0457929.3MTOR, TSC1, TSC2
13positive regulation of translationGO:0457279.3RPS6KB1, MTOR
14response to nutrientGO:0075849.2RPS6KB1, MTOR
15positive regulation of endothelial cell proliferationGO:0019389.2CCL26, MTOR
16phosphatidylinositol-mediated signalingGO:0480159.2RPS6KB1, MTOR, TSC2
17neurotrophin TRK receptor signaling pathwayGO:0480119.0DUSP6, TSC2, MTOR
18TOR signalingGO:0319298.9FLCN, MTOR, RPS6KB1
19insulin receptor signaling pathwayGO:0082868.8TSC2, TSC1, MTOR, RPS6KB1

Products for genes affiliated with Tuberous Sclerosis Complex

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Tuberous Sclerosis Complex

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet