http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_head http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_assertion http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_provenance http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_assertion http://identifiers.org/ncbigene/5873 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/C1868679 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#DGN72af7a4e6071d00de865613606d7c2ac http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5873 http://rdf.disgenet.org/gene-disease-association.ttl#DGN72af7a4e6071d00de865613606d7c2ac http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1868679 http://rdf.disgenet.org/gene-disease-association.ttl#DGN72af7a4e6071d00de865613606d7c2ac http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_provenance http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_assertion http://purl.org/dc/terms/description [Griscelli syndrome type 2 (GS2) is a rare autosomal-recessive disorder associated with a RAB27A gene mutation, and clinically manifesting as hypopigmentation, disseminated chronic encephalitis, and severe immunological disorders characterized by an accelerated hematological phase, also referred to as hemophagocytic syndrome (HS), or hemophagocytic lymphohistiocytosis (HLH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_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#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22111599 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_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#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_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#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/dc/terms/created 2014-10-02T12:36:07+02:00 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP417101.RAE4Rxppyvu4Oh9u43YJAihtS0BiPZYHi6QcQQ7PBmd8Y 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