@prefix semsc: .
@prefix dct: .
@prefix orcid: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_head {
this: np:hasAssertion dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_assertion;
np:hasProvenance dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_provenance;
np:hasPublicationInfo dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_publicationInfo;
a np:Nanopublication .
dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_assertion a np:Assertion .
dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_provenance a np:Provenance .
dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_assertion {
miriam-gene:5443 a ncit:C16612 .
lld:C0020615 a ncit:C7057 .
dgn-gda:DGN32bdbc59aa825910596f5a96ac26be82 semsc:SIO_000628 miriam-gene:5443, lld:C0020615;
a semsc:SIO_001121 .
}
dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_provenance {
dgn-np:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_assertion dct:description
"[Six patients presented with hypoglycaemia and other evidence of cortisol deficiency between 2.5 and 8 years of age; however, two others became cortisol deficient after initial testing showed normal cortisol responses to ACTH, evidence that the glucocorticoid insufficiency of this syndrome may not be congenital, but may develop as late as the third decade.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_literature;
semsc:SIO_000772 miriam-pubmed:1850671;
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:NP208986.RABipzMpNPCZ5AfJhpt0lE__yczOIMyY1rT_G3sNike80130_publicationInfo {
this: dct:created "2014-10-02T12:33:55+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct:subject semsc:SIO_000983;
prv:usedData dgn-void:disgenetrdf;
pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
pav:createdBy orcid:0000-0003-0169-8159;
pav:version "v2.1.0.0" .
dgn-void:disgenetrdf pav:version "v2.1.0" .
}