http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_head http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://identifiers.org/ncbigene/10000 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0431380 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN63041b0940663e5d1bad8e147ee2bcfe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10000 http://rdf.disgenet.org/resource/gda/DGN63041b0940663e5d1bad8e147ee2bcfe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0431380 http://rdf.disgenet.org/resource/gda/DGN63041b0940663e5d1bad8e147ee2bcfe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_provenance http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://purl.org/dc/terms/description [Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling cascade has been identified in focal malformations of cortical development (MCD) subtypes, which have been collectively referred to as mTORopathies. Mutations in mTOR regulatory genes (e.g., TSC1, TSC2, AKT3, DEPDC5) have been associated with several focal MCD highly associated with epilepsy such as tuberous sclerosis complex (TSC), hemimegalencephaly (HME; brain malformation associated with dramatic enlargement of one brain hemisphere), and cortical dysplasia. mTOR plays important roles in the regulation of cell division, growth, and survival, and, thus, aberrant activation of the cascade during cortical development can cause dramatic alterations in cell size, cortical lamination, and axon and dendrite outgrowth often observed in focal MCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25833943 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/dc/terms/created 2016-05-13T12:51:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1275481.RA6VoNSkW6FYZtpWUXatIixvQLKeiddZymi_Ywoh0hZN8 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0