http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_head http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion http://identifiers.org/ncbigene/57728 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/C0035334 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/DGNb7097fb0218b93ad5bc356b4a5d39729 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57728 http://rdf.disgenet.org/resource/gda/DGNb7097fb0218b93ad5bc356b4a5d39729 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0035334 http://rdf.disgenet.org/resource/gda/DGNb7097fb0218b93ad5bc356b4a5d39729 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_provenance http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion http://purl.org/dc/terms/description [Mutations in WDR19 encoding the intraflagellar transport component IFT144 have recently been described in single families with the clinically overlapping skeletal ciliopathies Jeune and Sensenbrenner syndromes, combined or isolated nephronophthisis (NPHP) and retinitis pigmentosa (RP) (Senior-Loken syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_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/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24504730 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_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/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/dc/terms/created 2015-08-25T14:47:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP933078.RAKychDX_VvFaZWmN1uPjL0j3bLQX9oBxPKdgE2liKkyU 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