http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_head http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_assertion http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_provenance http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_assertion http://identifiers.org/ncbigene/1311 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/C0026760 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/DGN4bbba49245635f4bf1c78c6ec64702bb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1311 http://rdf.disgenet.org/resource/gda/DGN4bbba49245635f4bf1c78c6ec64702bb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026760 http://rdf.disgenet.org/resource/gda/DGN4bbba49245635f4bf1c78c6ec64702bb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_provenance http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_assertion http://purl.org/dc/terms/description [These observations are similar to those for mutations in the cartilage oligomeric matrix protein (COMP) leading to multiple epiphyseal dysplasia and pseudoachondroplasia suggesting that retention and accumulation of cartilage proteins in the ER might be a general mechanism involved in the pathogenesis of chondrodysplasias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_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/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16199550 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_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/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/dc/terms/created 2016-05-13T12:45:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP515999.RA_vcmBPW1Nogp4qGcVz54nFZU1AsElYNROO4qCc7u66M 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