http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_head http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_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/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#DGNbaf80b928aa8ff3f3b1ba193e9d39937 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9993 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbaf80b928aa8ff3f3b1ba193e9d39937 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1840333 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbaf80b928aa8ff3f3b1ba193e9d39937 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_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#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_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#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12110949 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_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#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_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#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/dc/terms/created 2014-10-02T12:36:45+02:00 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP475594.RAyOsAdB5JgDFionIqahhkMXhiyTpjlb6B-1elVTM_lS8 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