http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_head http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://identifiers.org/ncbigene/338442 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/C1446648 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/gene-disease-association.ttl#DGNd6c23c388ffc0fd9e01b7e230fa5fb5d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/338442 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd6c23c388ffc0fd9e01b7e230fa5fb5d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1446648 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd6c23c388ffc0fd9e01b7e230fa5fb5d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_provenance http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://purl.org/dc/terms/description [The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15327960 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/dc/terms/created 2014-10-02T12:40:28+02:00 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP830230.RA7gS_fk4tv7Hwz-Oeg_cXntPlsI_GH9Pw5uNhnLEBZnI http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0