@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_head
{
this:
np:hasAssertion
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion
;
np:hasProvenance
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_provenance
;
np:hasPublicationInfo
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion
a
np:Assertion
.
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_provenance
a
np:Provenance
.
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion
{
miriam-gene:6770
a
ncit:C16612
.
lld:C0151467
a
ncit:C7057
.
dgn-gda:DGN849108c0d2c39b311755b0296dfb37de
sio:SIO_000628
miriam-gene:6770
,
lld:C0151467
;
a
sio:SIO_001121
.
}
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_provenance
{
dgn-np:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_assertion
dcterms:description
"[Mutations in the steroidogenic acute regulatory protein (StAR) gene cause congenital lipoid adrenal hyperplasia, characterized by diminished or absence of adrenal and gonadal steroids, resulting in severe adrenal insufficiency and ambiguous or complete female external genitalia in genetic males.]. 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:10323391
;
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:NP743384.RAsk51ICIloIbd_bALCdzf9_jMJfTm6aERKRlLE7CEPfg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:31+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}