http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_head http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://identifiers.org/ncbigene/284086 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/C3151188 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/DGN744ea946d33d817358261da5b67fc0c3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/284086 http://rdf.disgenet.org/resource/gda/DGN744ea946d33d817358261da5b67fc0c3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3151188 http://rdf.disgenet.org/resource/gda/DGN744ea946d33d817358261da5b67fc0c3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://purl.org/dc/terms/description [Our genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18199800 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://purl.org/pav/importedOn 2016-01-25 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/dc/terms/created 2016-05-13T12:41:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ 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