@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug
> .
@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:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_head
{
this:
np:hasAssertion
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_assertion
;
np:hasProvenance
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_provenance
;
np:hasPublicationInfo
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_assertion
a
np:Assertion
.
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_provenance
a
np:Provenance
.
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_assertion
{
miriam-gene:1991
a
ncit:C16612
.
lld:C1853118
a
ncit:C7057
.
dgn-gda:DGNefb80f74a10111eeedaf646854a2a855
sio:SIO_000628
miriam-gene:1991
,
lld:C1853118
;
a
sio:SIO_001121
.
}
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_provenance
{
dgn-np:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_assertion
dcterms:description
"[Inherited or spontaneously appearing mutations in the ELA2 gene encoding for neutrophil elastase have been implicated in the accelerated apoptotic process of the BM myeloid cells in patients with cyclic and severe congenital neutropenia.]. 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:12963840
;
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:NP408165.RAL4QXSaw6XR770OWb9cK9JtGJ2j3yDC84mEz61RFd2ug130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:50+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" .
}