@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM
> .
@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:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_head
{
this:
np:hasAssertion
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion
;
np:hasProvenance
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_provenance
;
np:hasPublicationInfo
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion
a
np:Assertion
.
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_provenance
a
np:Provenance
.
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion
{
miriam-gene:190
a
ncit:C16612
.
lld:C0520463
a
ncit:C7057
.
dgn-gda:DGN531e64d55ad2962f2dc445b4244c1410
sio:SIO_000628
miriam-gene:190
,
lld:C0520463
;
a
sio:SIO_001121
.
}
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_provenance
{
dgn-np:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_assertion
dcterms:description
"[HHG is thought to affect all NR0B1 mutated patients who reach puberty and, as understanding of the disease has improved, more of these patients survive while presenting different features of the disease, this emphasizing the value of genetic testing in boys with primary adrenal insufficiency and suspected X-linked CAH.]. 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:25402384
;
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:NP1237943.RA3TwzgyMB4ztdD0HmjwKMQsI5C-OnUhW87BqXirrNnbM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:07+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" .
}