http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_head http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_assertion http://identifiers.org/ncbigene/2625 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#DGN7bf1e0fa869e8d6996a701d59f6d16e6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2625 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7bf1e0fa869e8d6996a701d59f6d16e6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0012236 http://rdf.disgenet.org/gene-disease-association.ttl#DGN7bf1e0fa869e8d6996a701d59f6d16e6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_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#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_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#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21242646 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_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#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_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#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/dc/terms/created 2014-10-02T12:39:50+02:00 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP776330.RAaYi5GaM3IraAwGutiE74dRBZpC08iR1MAra3qFfquKM 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