http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_head http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://identifiers.org/ncbigene/170302 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/C0266463 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/gene-disease-association.ttl#DGNa202ed71c1ad1ddf9a0b66e8e24de586 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/170302 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa202ed71c1ad1ddf9a0b66e8e24de586 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266463 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa202ed71c1ad1ddf9a0b66e8e24de586 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://purl.org/dc/terms/description [Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15376319 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/dc/terms/created 2014-10-02T12:41:18+02:00 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP908568.RAyC6HagA0FyboByS9EONMPhURnIrrJkN11kZ-g5UjuN0 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0