http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_head http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_assertion http://identifiers.org/ncbigene/7401 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/C0011053 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#DGNcbbf910da6e5fa197f3260abb1f25a6c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7401 http://rdf.disgenet.org/gene-disease-association.ttl#DGNcbbf910da6e5fa197f3260abb1f25a6c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0011053 http://rdf.disgenet.org/gene-disease-association.ttl#DGNcbbf910da6e5fa197f3260abb1f25a6c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_assertion http://purl.org/dc/terms/description [Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_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#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15368488 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_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#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_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#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/dc/terms/created 2014-10-02T12:38:22+02:00 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP632773.RAPlzlU1fYnWYe6pWnDy_JnWFOtJV8eRm1ByCKXgzEuB0 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