http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_head http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_assertion http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_assertion http://identifiers.org/ncbigene/3313 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/C0027765 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/DGN8879ca67c20e7a7f46931be826e44c7b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3313 http://rdf.disgenet.org/resource/gda/DGN8879ca67c20e7a7f46931be826e44c7b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027765 http://rdf.disgenet.org/resource/gda/DGN8879ca67c20e7a7f46931be826e44c7b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_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/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23311583 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/dc/terms/created 2016-05-13T12:49:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1042903.RAzTXcxseirs0zstzVmImBpSwUxlZ0pWYuAB-vwMp9epM 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