http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_head http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_assertion http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_provenance http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_assertion http://identifiers.org/ncbigene/9993 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/resource/gda/DGN059203959bb11dac542c73113b121507 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9993 http://rdf.disgenet.org/resource/gda/DGN059203959bb11dac542c73113b121507 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0685891 http://rdf.disgenet.org/resource/gda/DGN059203959bb11dac542c73113b121507 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_provenance http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_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/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110949 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/dc/terms/created 2016-05-13T12:44:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP360296.RA96r1fsOIcbE9J3_sVa9SEOB6plfZ6c2qke-4zhg28gY http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0