@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo
> .
@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:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_head
{
this:
np:hasAssertion
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_assertion
;
np:hasProvenance
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_provenance
;
np:hasPublicationInfo
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_assertion
a
np:Assertion
.
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_provenance
a
np:Provenance
.
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_assertion
{
miriam-gene:1586
a
ncit:C16612
.
lld:C0520463
a
ncit:C7057
.
dgn-gda:DGN2e29fd6afb2da73540da316114bde718
sio:SIO_000628
miriam-gene:1586
,
lld:C0520463
;
a
sio:SIO_001121
.
}
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_provenance
{
dgn-np:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_assertion
dcterms:description
"[Autosomal recessive mutations in the CYP21, CYP17, CYP11B1 and 3betaHSD genes that encode steroidogenic enzymes, in addition to mutations in the gene encoding the intracellular cholesterol transport protein steroidogenic acute regulatory protein StAR can cause 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:15255373
;
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:NP452112.RAEVhut_PnlU4ZV6xxn1-qiqK2DupJ3P4OKNihr2JKJOo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:10+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" .
}