http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_head http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion http://identifiers.org/ncbigene/8026 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/gene-disease-association.ttl#DGN1d33aa840736a19f89418d9525f37b87 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8026 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1d33aa840736a19f89418d9525f37b87 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018798 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1d33aa840736a19f89418d9525f37b87 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_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#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_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#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110949 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_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#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_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#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/dc/terms/created 2014-10-02T12:33:54+02:00 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE 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