http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_head http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_assertion http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_provenance http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_assertion http://identifiers.org/ncbigene/2074 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/C0006625 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/DGN4b36e4f00acf331ed59ba2881bff443c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2074 http://rdf.disgenet.org/resource/gda/DGN4b36e4f00acf331ed59ba2881bff443c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0006625 http://rdf.disgenet.org/resource/gda/DGN4b36e4f00acf331ed59ba2881bff443c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_provenance http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_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/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_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/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23311583 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_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/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/dc/terms/created 2015-08-25T14:41:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP382837.RAiR1ucflptZSMYy5bO6QO5o3uXa1zxqX1CEhdGAtZgjM 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