http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_head http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_assertion http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_provenance http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_assertion http://identifiers.org/ncbigene/7393 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/C0035304 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#DGN0ae4f7aa9e48ed13ca0c107ea91e24db http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7393 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0ae4f7aa9e48ed13ca0c107ea91e24db http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0035304 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0ae4f7aa9e48ed13ca0c107ea91e24db http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_provenance http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_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#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_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#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15368488 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_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#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_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#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/dc/terms/created 2014-10-02T12:37:25+02:00 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP539152.RA-inBCQZiJwoHqZ6w-nx29aDAZr9bT4EQCOw6xVHu_5g 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