@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA
> .
@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:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_head
{
this:
np:hasAssertion
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_assertion
;
np:hasProvenance
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_assertion
a
np:Assertion
.
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_provenance
a
np:Provenance
.
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_assertion
{
miriam-gene:1584
a
ncit:C16612
.
lld:C0001623
a
ncit:C7057
.
dgn-gda:DGN6554076178495f0688254569d0868f05
sio:SIO_000628
miriam-gene:1584
,
lld:C0001623
;
a
sio:SIO_001121
.
}
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_provenance
{
dgn-np:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_assertion
dcterms:description
"[Mutations in the 11β-hydroxylase (CYP11B1) gene are the second leading cause of congenital adrenal hyperplasia (CAH), an autosomal recessive disorder characterized by adrenal insufficiency, virilization of female external genitalia, and hypertension with or without hypokalemic alkalosis.]. 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:23345044
;
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:NP1046502.RA69b3D3VipxU6H1jeBx75gS3KGkCLYSh4Z90U4zqVjbA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:40+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" .
}