http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_head http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion http://identifiers.org/ncbigene/27443 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/C0265493 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#DGN431eb3e557ce44c744fed7580b8344b2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/27443 http://rdf.disgenet.org/gene-disease-association.ttl#DGN431eb3e557ce44c744fed7580b8344b2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265493 http://rdf.disgenet.org/gene-disease-association.ttl#DGN431eb3e557ce44c744fed7580b8344b2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion http://purl.org/dc/terms/description [This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_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#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22395867 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_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#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_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#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/dc/terms/created 2014-10-02T12:39:38+02:00 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU 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