http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_head http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion http://identifiers.org/ncbigene/2592 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/C0268155 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#DGNe2762666789f1504ca02230f15fbf48c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2592 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe2762666789f1504ca02230f15fbf48c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0268155 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe2762666789f1504ca02230f15fbf48c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_provenance http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion http://purl.org/dc/terms/description [As cataract and pseudotumor cerebri appear to be the sole complications of galactokinase deficiency, the outcome for patients with galactokinase deficiency is much better than for patients with classical galactosaemia (McKusick 230400), a more common autosomal recessive disorder of galactose metabolism caused by galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_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#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12705493 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_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#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_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#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/dc/terms/created 2014-10-02T12:36:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP451750.RAU8J2lPHQdUPYbGT9QHJk9dKWc_cgY7zyoZIdAKewgHA 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