http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_head http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_assertion http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_provenance http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_assertion http://identifiers.org/ncbigene/1513 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/C0410528 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#DGNd38f0303ecbe6f23321a4f4bdfa232b4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1513 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd38f0303ecbe6f23321a4f4bdfa232b4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410528 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd38f0303ecbe6f23321a4f4bdfa232b4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_provenance http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_assertion http://purl.org/dc/terms/description [Pycnodysostosis (Pycno) is an autosomal recessive osteosclerotic skeletal dysplasia that is caused by the markedly deficient activity of cathepsin K. This lysosomal cysteine protease has substantial collagenase activity, is present at high levels in osteoclasts, and is secreted into the subosteoclastic space where bone matrix is degraded.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_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#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10571690 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_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#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_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#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/dc/terms/created 2014-10-02T12:34:35+02:00 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP276028.RAiw4whGjGUzFIcqCPIlQWs6oscLsW7DsTLknuK0-8u44 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