http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_head http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_assertion http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_provenance http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_assertion http://identifiers.org/ncbigene/1443 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/C0009207 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/DGN41984a22113035ff8eb1f80a28426fcb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1443 http://rdf.disgenet.org/resource/gda/DGN41984a22113035ff8eb1f80a28426fcb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009207 http://rdf.disgenet.org/resource/gda/DGN41984a22113035ff8eb1f80a28426fcb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_provenance http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_assertion http://purl.org/dc/terms/description [Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and possibly orofacial and dental anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_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/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23311583 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_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/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/dc/terms/created 2015-08-25T14:40:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP332409.RAb7-7wo0bbbaQO0TvzIOMi68dc4dW8Yja89YklT_NnYg 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