@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8
> .
@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:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_head
{
this:
np:hasAssertion
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_assertion
;
np:hasProvenance
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_provenance
;
np:hasPublicationInfo
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_assertion
a
np:Assertion
.
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_provenance
a
np:Provenance
.
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_assertion
{
miriam-gene:1583
a
ncit:C16612
.
lld:C0014130
a
ncit:C7057
.
dgn-gda:DGN18f459656519b06d8e8914f86527f1e1
sio:SIO_000628
miriam-gene:1583
,
lld:C0014130
;
a
sio:SIO_001121
.
}
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_provenance
{
dgn-np:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_assertion
dcterms:description
"[Mutations in the encoding gene have been confirmed as the basis of endocrine disease in the case of all of the adrenal steroidogenic enzymes required for synthesis of cortisol but one (cholesterol desmolase).]. 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:8167572
;
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:NP923950.RAxxPe3mkL4uXLbLs_b9uC718VU4-TeMjtLjG2AtcAiu8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:26+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" .
}