http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_head
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_assertion
http://identifiers.org/ncbigene/2475
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/C1955869
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/DGN11c4b6d09f582a6cd1bfb6435d2a48de
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2475
http://rdf.disgenet.org/resource/gda/DGN11c4b6d09f582a6cd1bfb6435d2a48de
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1955869
http://rdf.disgenet.org/resource/gda/DGN11c4b6d09f582a6cd1bfb6435d2a48de
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_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/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_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/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25833943
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_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/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/dc/terms/created
2016-05-13T12:51:24+02:00
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1275497.RAyMhPW1J_2L9rAZM9uBDTAP3xSoLc5ebK9No0otflMOI
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