@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w
> .
@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:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_head
{
this:
np:hasAssertion
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_assertion
;
np:hasProvenance
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_provenance
;
np:hasPublicationInfo
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_assertion
a
np:Assertion
.
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_provenance
a
np:Provenance
.
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_assertion
{
miriam-gene:6770
a
ncit:C16612
.
lld:C0520463
a
ncit:C7057
.
dgn-gda:DGNb0133516bce22af58b5fe03ad3fae0ed
sio:SIO_000628
miriam-gene:6770
,
lld:C0520463
;
a
sio:SIO_001121
.
}
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_provenance
{
dgn-np:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_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-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:NP595252.RAzyr-9Ihp5bs3oUIyoRc8en7UDk7hVR14cRv_ExGlA9w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:58+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" .
}