http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_head http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_assertion http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_provenance http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_assertion http://identifiers.org/ncbigene/1836 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/DGN366131a986c62aba34a6a00abc49e6cc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1836 http://rdf.disgenet.org/resource/gda/DGN366131a986c62aba34a6a00abc49e6cc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026760 http://rdf.disgenet.org/resource/gda/DGN366131a986c62aba34a6a00abc49e6cc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_provenance http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_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/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_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/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11968079 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_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/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/dc/terms/created 2015-08-25T14:41:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP361972.RAV-gjZ4Pi8aLJICZ0SN6H2dzTwiJocXQe2MR_sUYGcLA 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