http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_head http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_assertion http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_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/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_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/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_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/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24339792 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_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/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/dc/terms/created 2016-05-13T12:50:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1137153.RA4fJ-jizwA6qfTUhN9c03jZIiKmUYBZBdB1l3ekAaxG0 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