http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_head http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_assertion http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_provenance http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_assertion http://identifiers.org/ncbigene/27130 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/C0752166 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/DGN180a0e088e573229f7381cbe8c580d50 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/27130 http://rdf.disgenet.org/resource/gda/DGN180a0e088e573229f7381cbe8c580d50 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0752166 http://rdf.disgenet.org/resource/gda/DGN180a0e088e573229f7381cbe8c580d50 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_provenance http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_assertion http://purl.org/dc/terms/description [Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ) and inversin (Inv) compartments, and defects in this organelle are associated with an expanding spectrum of inherited disorders including Bardet-Biedl syndrome (BBS), Meckel-Gruber Syndrome (MKS), Joubert Syndrome (JS) and Nephronophthisis (NPHP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_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/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24339792 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_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/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/dc/terms/created 2015-08-25T14:46:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP886251.RAFKEMDo9etJx-mgiBYdY6G77jIy_F8fvlnXWJRDxGgvE 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