http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_head http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_assertion http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_provenance http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_assertion http://identifiers.org/ncbigene/5979 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/C0019569 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/DGNac5201f5b8c455a3fcd4bdd8f5976d2b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5979 http://rdf.disgenet.org/resource/gda/DGNac5201f5b8c455a3fcd4bdd8f5976d2b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019569 http://rdf.disgenet.org/resource/gda/DGNac5201f5b8c455a3fcd4bdd8f5976d2b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_provenance http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_assertion http://purl.org/dc/terms/description [While the lack of normal SOX10 mediated activation of RET transcription may lead to intestinal aganglionosis, overexpression of genes coding for structural myelin proteins such as P0 due to mutant SOX10 may explain the dysmyelination phenotype observed in the patients with an additional neurological disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_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/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14523991 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_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/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/dc/terms/created 2016-05-13T12:44:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP415664.RAMJB4Zhnrszt6Adehlk6gMOVzYrFDrPwqLZ05IAUYRqA 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