http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#head
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#assertion
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#provenance
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#assertion
http://rdf.disgenet.org/resource/gda/DGNffe926e7940b3be72f944c21567945da
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3931
http://rdf.disgenet.org/resource/gda/DGNffe926e7940b3be72f944c21567945da
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0023195
http://rdf.disgenet.org/resource/gda/DGNffe926e7940b3be72f944c21567945da
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#provenance
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#assertion
http://purl.org/dc/terms/description
[The gene encoding for LCAT has been mapped to chromosome 16q22.1, and several mutations of this gene cause LCAT deficiency which is inherited as an autosomal recessive trait and which is characterized by corneal opacities, normochromic normocytic anemia, and renal dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#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/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11423760
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#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/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/dc/terms/created
2017-10-17T13:14:14+02:00
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP636864.RAHQmnwT3g3csvGcirDhYFqP1hRTrxTY4G5sN1EUv9Y30
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