@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU
> .
@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:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_head
{
this:
np:hasAssertion
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_assertion
;
np:hasProvenance
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_provenance
;
np:hasPublicationInfo
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_assertion
a
np:Assertion
.
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_provenance
a
np:Provenance
.
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_assertion
{
miriam-gene:190
a
ncit:C16612
.
lld:C0001403
a
ncit:C7057
.
dgn-gda:DGNe9fad7704aa3b4abbbf69aac7c2852f8
sio:SIO_000628
miriam-gene:190
,
lld:C0001403
;
a
sio:SIO_001121
.
}
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_provenance
{
dgn-np:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_assertion
dcterms:description
"[The continuous molecular genetic analysis of male patients with primary adrenal insufficiency revealed 13 novel mutations within the coding region of the NR0B1 gene which are predicted to inactivate the DAX1 function.]. 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:15841486
;
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:NP490831.RAnc8hn1cbn0BczC1cu7gi-Ks65YXOsjuis7GiNYXu3MU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:27+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" .
}