http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_head http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_assertion http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_provenance http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_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/resource/gda/DGNd38f0303ecbe6f23321a4f4bdfa232b4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1513 http://rdf.disgenet.org/resource/gda/DGNd38f0303ecbe6f23321a4f4bdfa232b4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410528 http://rdf.disgenet.org/resource/gda/DGNd38f0303ecbe6f23321a4f4bdfa232b4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_provenance http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_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/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_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/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10571690 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_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/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/dc/terms/created 2016-05-13T12:43:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP268266.RAi2ew4g00tuTlp2E17fLz1qY6FTnDNIZLN9jtFfGtWOY 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