http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#head http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#assertion http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#provenance http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#assertion http://rdf.disgenet.org/resource/gda/DGN1b0677c3a6d5180946288932c817cce8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1508 http://rdf.disgenet.org/resource/gda/DGN1b0677c3a6d5180946288932c817cce8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238402 http://rdf.disgenet.org/resource/gda/DGN1b0677c3a6d5180946288932c817cce8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#provenance http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#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/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10571690 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/dc/terms/created 2017-10-17T13:11:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP257152.RAIGBtVKMSVwDHy8EF8GMb6Wr_FsRZAB8X5etDaTcTyDI http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0