http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_head http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_assertion http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_provenance http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_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/DGNd810e80003cee0b18e009e8a974a2b07 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1311 http://rdf.disgenet.org/resource/gda/DGNd810e80003cee0b18e009e8a974a2b07 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026760 http://rdf.disgenet.org/resource/gda/DGNd810e80003cee0b18e009e8a974a2b07 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_provenance http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_assertion http://purl.org/dc/terms/description [PSACH is almost exclusively caused by mutations in cartilage oligomeric matrix protein (COMP) whereas various forms of MED are caused by mutations in the genes encoding COMP, type IX collagen (COL9A1, COL9A2, and COL9A3), matrilin-3 (MATN3), and solute carrier member 26, member 2 gene (SLC26A2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_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/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11968079 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_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/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/dc/terms/created 2016-05-13T12:44:25+02:00 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP352740.RAtIa6XyF4cxDQfi34PGYOn3tLgLQnIspbNMNAKtroVWw 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