http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_head http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_assertion http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_provenance http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_assertion http://identifiers.org/ncbigene/1508 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/DGN6b42602ec7558d8fb783d78ab6bcbf6f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1508 http://rdf.disgenet.org/resource/gda/DGN6b42602ec7558d8fb783d78ab6bcbf6f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0410528 http://rdf.disgenet.org/resource/gda/DGN6b42602ec7558d8fb783d78ab6bcbf6f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_provenance http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_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/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10571690 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/dc/terms/created 2015-08-25T14:40:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP337203.RAnbqOBfxIHxhzWgyyyvYw3wwi5FHNAYok0HXdMZoR2BA http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0