http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_head http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_assertion http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_provenance http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_assertion http://identifiers.org/ncbigene/8026 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/C0012236 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#DGNec42992139f9c9759dfb3d1568723f51 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8026 http://rdf.disgenet.org/gene-disease-association.ttl#DGNec42992139f9c9759dfb3d1568723f51 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0012236 http://rdf.disgenet.org/gene-disease-association.ttl#DGNec42992139f9c9759dfb3d1568723f51 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_provenance http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_assertion http://purl.org/dc/terms/description [GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR and DiGeorge syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_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#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21242646 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_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#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_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#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/dc/terms/created 2014-10-02T12:36:54+02:00 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP493308.RAJFAFXBwYmHTLzY1XFEfX034QFO1G0YXBRaIXKdIcL2k 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