http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#head
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#assertion
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#provenance
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#assertion
http://rdf.disgenet.org/resource/gda/DGNb2bfa864e986154c4f28c889b4529e2a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/10166
http://rdf.disgenet.org/resource/gda/DGNb2bfa864e986154c4f28c889b4529e2a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0268540
http://rdf.disgenet.org/resource/gda/DGNb2bfa864e986154c4f28c889b4529e2a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#provenance
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#assertion
http://purl.org/dc/terms/description
[Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#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/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/14759633
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#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/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/dc/terms/created
2017-10-17T13:17:53+02:00
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1208741.RAWRZktTsIJpwB2nLq4fwY8kO6g31MVDoDHLdsMDPoD5w
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