@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_head
{
this:
np:hasAssertion
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_assertion
;
np:hasProvenance
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_provenance
;
np:hasPublicationInfo
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_assertion
a
np:Assertion
.
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_provenance
a
np:Provenance
.
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_assertion
{
miriam-gene:5443
a
ncit:C16612
.
lld:C0020615
a
ncit:C7057
.
dgn-gda:DGN32bdbc59aa825910596f5a96ac26be82
sio:SIO_000628
miriam-gene:5443
,
lld:C0020615
;
a
sio:SIO_001121
.
}
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_provenance
{
dgn-np:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_assertion
dcterms: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
;
sio:SIO_000772
miriam-pubmed:1850671
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP673479.RAr-EGLDHUB736q9aGGD267STI1jPdP9mWZKGAz8rlzYs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:50+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}