http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_head http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_assertion http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_provenance http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_assertion http://identifiers.org/ncbigene/4148 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/DGN923a9c1290b14df4e2ccdf9460b1d88f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4148 http://rdf.disgenet.org/resource/gda/DGN923a9c1290b14df4e2ccdf9460b1d88f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026760 http://rdf.disgenet.org/resource/gda/DGN923a9c1290b14df4e2ccdf9460b1d88f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_provenance http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_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/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_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/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11968079 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_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/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/dc/terms/created 2016-05-13T12:44:25+02:00 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP352742.RAGx-JcLJYiG7tRGx_XvrZwDcJQWrjE8S-O3yeJP-PijE 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