http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#head http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#assertion http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#provenance http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#assertion http://rdf.disgenet.org/resource/gda/DGNa6ecf81a374539b590b0af3733a9315f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9993 http://rdf.disgenet.org/resource/gda/DGNa6ecf81a374539b590b0af3733a9315f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0000846 http://rdf.disgenet.org/resource/gda/DGNa6ecf81a374539b590b0af3733a9315f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#provenance http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#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/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110949 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/dc/terms/created 2017-10-17T13:17:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1202821.RAmfUzfpUzgDxce8A63EcbesYGHN_CWYTOFchEcIVr6VY http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0