http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_head http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_assertion http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_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/C0041341 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/DGN468c7227a720397c48e28332e799d1a0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10000 http://rdf.disgenet.org/resource/gda/DGN468c7227a720397c48e28332e799d1a0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0041341 http://rdf.disgenet.org/resource/gda/DGN468c7227a720397c48e28332e799d1a0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_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/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_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/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25833943 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_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/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/dc/terms/created 2016-05-13T12:51:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1275496.RAK2rS2HWD4EpsXcwbABWxtHg9y6HfTauc_XUeUDFK3MM 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