http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_head http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion http://identifiers.org/ncbigene/4412 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/C0013336 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#DGN2f86311ebb8859e2a20764061a11026a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4412 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2f86311ebb8859e2a20764061a11026a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013336 http://rdf.disgenet.org/gene-disease-association.ttl#DGN2f86311ebb8859e2a20764061a11026a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion http://purl.org/dc/terms/description [Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_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#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18194880 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_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#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_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#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/dc/terms/created 2014-10-02T12:34:16+02:00 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP243250.RA5qMpdjZvYnIUkJYEHg5XbqtghH9OkklORuHmTFUw0bQ 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