http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_head http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_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/C1840333 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#DGNd6549f64247611752280fa7a0cc8ebb0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8026 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd6549f64247611752280fa7a0cc8ebb0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1840333 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd6549f64247611752280fa7a0cc8ebb0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_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#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_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#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110949 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_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#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_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#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/dc/terms/created 2014-10-02T12:36:09+02:00 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP420328.RAKpFkk_Oq5UB-IfL4tyubt-Q-tHZBM7aEx9Z7J8FnjNI 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