tuberous sclerosis 1

URI: https://gptkb.org/entity/tuberous_sclerosis_1
GPTKB entity
Statements (22)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alsoKnownAs gptkb:TSC1
gptkbp:associatedWith gptkb:tuberous_sclerosis_complex
gptkbp:discoveredBy gptkb:European_Chromosome_9_Tuberous_Sclerosis_Consortium
gptkbp:encodes gptkb:hamartin
gptkbp:Entrez_Gene_ID 7248
gptkbp:expressedIn various tissues
gptkbp:function tumor suppressor
gptkbp:HGNC_ID gptkb:HGNC:12362
https://www.w3.org/2000/01/rdf-schema#label tuberous sclerosis 1
gptkbp:inheritance autosomal dominant
gptkbp:interactsWith gptkb:TSC2
gptkbp:locatedOnChromosome gptkb:chromosome_9
gptkb:9q34
gptkbp:mutationAssociatedWith gptkb:tuberous_sclerosis
germline
gptkbp:OMIM 605284
gptkbp:product gptkb:hamartin
gptkbp:regulates gptkb:mTOR_pathway
gptkbp:UniProtID gptkb:Q92574
gptkbp:bfsParent gptkb:TSC1
gptkbp:bfsLayer 6