@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:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_head { this: np:hasAssertion dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion; np:hasProvenance dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_provenance; np:hasPublicationInfo dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_publicationInfo; a np:Nanopublication . dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion a np:Assertion . dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_provenance a np:Provenance . dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_publicationInfo a np:PublicationInfo . } dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion { miriam-gene:5741 a ncit:C16612 . lld:C0020599 a ncit:C7057 . dgn-gda:DGN19cf4f7ae4ece6648f4334236120b61b sio:SIO_000628 miriam-gene:5741, lld:C0020599; a sio:SIO_001121 . } dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_provenance { dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion dcterms:description "[FBHH is a rare autosomal dominant disorder exhibiting benign hypercalcemia, inappropriately normal parathyroid hormone (PTH) levels, and relative hypocalciuria, thus reflecting partial resistance to the normal effects of extracellular calcium on parathyroid glands and kidneys.]. 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:12412778; 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:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_publicationInfo { this: dcterms:created "2014-10-02T12:39:05+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" . }