@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:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_head { this: np:hasAssertion dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion; np:hasProvenance dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_provenance; np:hasPublicationInfo dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_publicationInfo; a np:Nanopublication . dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion a np:Assertion . dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_provenance a np:Provenance . dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_publicationInfo a np:PublicationInfo . } dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion { miriam-gene:6519 a ncit:C16612 . lld:C0010691 a ncit:C7057 . dgn-gda:DGN3ec89e9d97d686814c8e4e34b8fc62a3 sio:SIO_000628 miriam-gene:6519, lld:C0010691; a sio:SIO_001121 . } dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_provenance { dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion dcterms:description "[Mutations in the SLC3A1 and SLC7A9 genes cause cystinuria (OMIM 220100), an autosomal recessive disorder of amino acid transport and reabsorption in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract.]. 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:18752446; 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:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_publicationInfo { this: dcterms:created "2015-08-25T14:44:40+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" . }