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tuberous sclerosis
(phenotype)
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Genetic Markers
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Most Correlated SNPs
TSC1
TSC2
IFNG
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Pathway Enrichment
Most Correlated Biogroups
REACTOME_REGULATION_OF_RHEB_GTPASE_ACTIVITY_BY_AMPK
REACTOME_ENERGY_DEPENDENT_REGULATION_OF_MTOR_BY_LKB1_AMPK
REACTOME_PKB_MEDIATED_EVENTS
negative regulation of cellular response to insulin stimulus
PID_LKB1_PATHWAY
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Curated Studies
Most Correlated Studies
Gene expression in cortical tubers isolated from tuberous sclerosis complex patients
OMIM - Tuberous sclerosis syndrome
Neural progenitor cells from tuberous sclerosis complex patient with TSC2 mutation
Mouse Phenotypes - Neurocutaneous syndrome
OMIM - Congenital disorder
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Literature
Most Relevant Literature
From genes to cognition in tuberous sclerosis: implications for mTOR inhibitor-based treatment appro…
Tuberous sclerosis and fulminant lupus in a young woman.
Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis].
Hypersensitivity to radiation therapy in a patient with tuberous sclerosis: biological consideration…
The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective.
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Clinical Trials
Most Relevant Clinical Trials
JASPER Early Intervention for Tuberous Sclerosis
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
Study of Skin Tumors in Tuberous Sclerosis
Tuberous Sclerosis Complex Natural History Study: Renal Manifestations
Acceptance and Commitment Therapy in Tuberous Sclerosis Complex
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