http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_head http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_assertion http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_assertion http://identifiers.org/ncbigene/9241 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/C0014850 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#DGN763eef5f9cf1388831dbeb87888955e0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9241 http://rdf.disgenet.org/gene-disease-association.ttl#DGN763eef5f9cf1388831dbeb87888955e0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014850 http://rdf.disgenet.org/gene-disease-association.ttl#DGN763eef5f9cf1388831dbeb87888955e0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_assertion http://purl.org/dc/terms/description [Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_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#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18983945 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_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#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_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#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/dc/terms/created 2014-10-02T12:38:32+02:00 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP651379.RAAxQ5TbkUwkL1DPBd9bUii5dcbtmh8i97YyDteaaH98s 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