@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:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_head { this: np:hasAssertion dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_assertion; np:hasProvenance dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_provenance; np:hasPublicationInfo dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_publicationInfo; a np:Nanopublication . dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_assertion a np:Assertion . dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_provenance a np:Provenance . dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_publicationInfo a np:PublicationInfo . } dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_assertion { miriam-gene:6559 a ncit:C16612 . lld:C0019247 a ncit:C7057 . dgn-gda:DGN7284558b5bbdbc9028c8a806c887cd64 sio:SIO_000628 miriam-gene:6559, lld:C0019247; a sio:SIO_001121 . } dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_provenance { dgn-np:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_assertion dcterms:description "[Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter (NCCT) and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.]. 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:19356345; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP359867.RA14q6edbPJAzaj6FxYmLv6XF-xsF_ITpu7LlyqtbNayI130_publicationInfo { this: dcterms:created "2014-10-02T12:35:31+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }