http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_head http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_assertion http://identifiers.org/ncbigene/2706 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/C0039373 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#DGNaeae8b61305511731431b4c5fd2449aa http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2706 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaeae8b61305511731431b4c5fd2449aa http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0039373 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaeae8b61305511731431b4c5fd2449aa http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_assertion http://purl.org/dc/terms/description [The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 sensorineural hearing loss).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_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#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15775754 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_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#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_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#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/dc/terms/created 2014-10-02T12:39:42+02:00 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP763090.RAH-EAe6N6VOYQ_LwyeTJVyPASlloX1D_7co3bur_UduM 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