http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_head http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_assertion http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_provenance http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_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/C0018798 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/DGN6ff00832de16520cd37209feb5e53943 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9993 http://rdf.disgenet.org/resource/gda/DGN6ff00832de16520cd37209feb5e53943 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018798 http://rdf.disgenet.org/resource/gda/DGN6ff00832de16520cd37209feb5e53943 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_provenance http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_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/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_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/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110949 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_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/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/dc/terms/created 2016-05-13T12:44:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP360298.RAD8n4L7jKLgPIlpdn6MT4JBmQlAEaqb4jakVAd49ViW0 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