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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:TSC1
hamartin gene
tuberous sclerosis complex 1
|
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gptkbp:associatedWith
|
gptkb:tuberous_sclerosis_complex
gptkb:autism_spectrum_disorder
gptkb:lung_lymphangioleiomyomatosis
gptkb:subependymal_giant_cell_astrocytoma
epilepsy
cardiac rhabdomyoma
renal angiomyolipoma
|
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gptkbp:clinicalTrialPhase
|
genetic testing for tuberous sclerosis
|
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gptkbp:discoveredBy
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gptkb:European_Chromosome_9_Tuberous_Sclerosis_Consortium
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gptkbp:discoveredIn
|
1997
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gptkbp:encodes
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gptkb:hamartin
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gptkbp:Entrez_Gene_ID
|
7248
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:kidney
brain
heart
liver
|
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gptkbp:formsComplexWith
|
TSC2 protein
|
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gptkbp:fullName
|
tuberous sclerosis 1 gene
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gptkbp:function
|
tumor suppressor
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gptkbp:geneType
|
protein-coding
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gptkbp:HGNC_ID
|
gptkb:HGNC:12362
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
TSC1 gene
|
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gptkbp:inheritance
|
autosomal dominant
|
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gptkbp:inhibitedBy
|
gptkb:Rheb_GTPase
|
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gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
gptkb:9q34
|
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gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
frameshift
splice-site
large rearrangement
benign and malignant tumors
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gptkbp:numberOfExons
|
23
|
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gptkbp:OMIM
|
605284
|
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gptkbp:orthologInMouse
|
gptkb:Tsc1
|
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gptkbp:pathway
|
gptkb:PI3K-Akt_signaling_pathway
AMPK signaling pathway
cell growth regulation
autophagy regulation
insulin signaling pathway
|
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gptkbp:product
|
gptkb:hamartin
|
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gptkbp:referenceGenome
|
NM_000368
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|
gptkbp:referenceSequenceProtein
|
NP_000359
|
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gptkbp:regulates
|
gptkb:mTOR_signaling_pathway
|
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gptkbp:UniProtID
|
gptkb:Q92574
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gptkbp:bfsParent
|
gptkb:tuberous_sclerosis_complex
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gptkbp:bfsLayer
|
6
|