http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_head
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_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/C0431391
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/DGNa7cde71637e19f2873f7d49c9fa13fe4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2475
http://rdf.disgenet.org/resource/gda/DGNa7cde71637e19f2873f7d49c9fa13fe4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0431391
http://rdf.disgenet.org/resource/gda/DGNa7cde71637e19f2873f7d49c9fa13fe4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_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/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_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/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25833943
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_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/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/dc/terms/created
2016-05-13T12:51:24+02:00
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1275479.RAxj4sooYaR5rBYSBQPeRSqeicd77qBldArRvbKbF9VeI
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