http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#head http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#assertion http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#provenance http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#assertion http://rdf.disgenet.org/resource/gda/DGN22853b3b95b03b86a2b297e266506e50 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3918 http://rdf.disgenet.org/resource/gda/DGN22853b3b95b03b86a2b297e266506e50 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0796126 http://rdf.disgenet.org/resource/gda/DGN22853b3b95b03b86a2b297e266506e50 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#provenance http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#assertion http://purl.org/dc/terms/description [Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#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/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10442562 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#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/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/dc/terms/created 2017-10-17T13:14:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP635140.RAw9wnnaaAqg7-M63p6hKCnCgMluOKRMVMoS-VAwUA63A 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