@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:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_head { this: np:hasAssertion dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_assertion; np:hasProvenance dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_provenance; np:hasPublicationInfo dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_publicationInfo; a np:Nanopublication . dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_assertion a np:Assertion . dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_provenance a np:Provenance . dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_publicationInfo a np:PublicationInfo . } dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_assertion { miriam-gene:390756 a ncit:C16612 . lld:C0852654 a ncit:C7057 . dgn-gda:DGNea9fd970d8a4b9ba2d1a67c318cc66e7 sio:SIO_000628 miriam-gene:390756, lld:C0852654; a sio:SIO_001121 . } dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_provenance { dgn-np:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_assertion dcterms:description "[The proband was born with ambiguous genitalia from consanguineous parents and was mistreated as a 21-hydroxylase deficiency case since the age of 5 yr. She had very high levels of plasma ACTH (759 pg/ml or 167 pmol/liter) and high levels of cortisol (28-54 microg/dl or 772-1490 nmol/liter), androstenedione (5-14 ng/ml or 17-48 nmol/liter), T (174-235 ng/dl or 7-8 nmol/liter), and 17-hydroxyprogesterone (8-12 ng/ml or 24-36 nmol/liter).]. 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:11932321; 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:NP990919.RAOBmcWSsToTeeJHrGtQqCQhlFYPlmdkLC6lQwF4jRVuM130_publicationInfo { this: dcterms:created "2015-08-25T14:47:48+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" . }