@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c
> .
@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:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_head
{
this:
np:hasAssertion
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_assertion
;
np:hasProvenance
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_provenance
;
np:hasPublicationInfo
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_assertion
a
np:Assertion
.
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_provenance
a
np:Provenance
.
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_assertion
{
miriam-gene:2516
a
ncit:C16612
.
lld:C1691215
a
ncit:C7057
.
dgn-gda:DGN62a4bed9719d52868eb91c8149630f37
sio:SIO_000628
miriam-gene:2516
,
lld:C1691215
;
a
sio:SIO_001121
.
}
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_provenance
{
dgn-np:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_assertion
dcterms:description
"[Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency.]. 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:23299922
;
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:NP1041838.RAF-WsqznSRvz71walazQc4HIG3WqJ8kvVZQKsC1uNj0c130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:38+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" .
}