http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_head http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion http://identifiers.org/ncbigene/3258 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/C0685891 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#DGNd335cc69157d5ab26bb40501b737854d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3258 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd335cc69157d5ab26bb40501b737854d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0685891 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd335cc69157d5ab26bb40501b737854d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion http://purl.org/dc/terms/description [The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_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#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110949 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_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#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_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#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/dc/terms/created 2014-10-02T12:36:27+02:00 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP447844.RAZ7B0CEbWe4Tl6CPgDabwcWT0J9z-5x2wPDL2DbOyhtQ 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