http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_head http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_assertion http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_provenance http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_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/C3714506 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/DGNee965c7e9302338c3631c7f1cfa52a37 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/27130 http://rdf.disgenet.org/resource/gda/DGNee965c7e9302338c3631c7f1cfa52a37 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3714506 http://rdf.disgenet.org/resource/gda/DGNee965c7e9302338c3631c7f1cfa52a37 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_provenance http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_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/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_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/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24339792 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_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/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/dc/terms/created 2015-08-25T14:46:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP886262.RA2AYMxAvKFIAzPNZRkTq9G9NR0L_rF6eorkyiDPPHOIU 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