http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#head
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#assertion
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#provenance
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#assertion
http://rdf.disgenet.org/resource/gda/DGNeec2b4aaa58a2ddc6492a44d8cf51b5b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/27130
http://rdf.disgenet.org/resource/gda/DGNeec2b4aaa58a2ddc6492a44d8cf51b5b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3714506
http://rdf.disgenet.org/resource/gda/DGNeec2b4aaa58a2ddc6492a44d8cf51b5b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#provenance
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#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/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24339792
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/dc/terms/created
2017-10-17T13:18:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1284201.RAWK6CkvL0K-K0YDyWZKBTN0X4ZM62FIlQ_c446RIQdBY
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0