@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_head { this: np:hasAssertion dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion; np:hasProvenance dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_provenance; np:hasPublicationInfo dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_publicationInfo; a np:Nanopublication . dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion a np:Assertion . dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_provenance a np:Provenance . dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_publicationInfo a np:PublicationInfo . } dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion { miriam-gene:3931 a ncit:C16612 . lld:C0023195 a ncit:C7057 . dgn-gda:DGNf48b05cbd641af5cd85b0efb9bcc71ee sio:SIO_000628 miriam-gene:3931, lld:C0023195; a sio:SIO_001121 . } dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_provenance { dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:11423760; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_publicationInfo { this: dcterms:created "2015-08-25T14:42:54+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }