@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0
> .
@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:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_head
{
this:
np:hasAssertion
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion
;
np:hasProvenance
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_provenance
;
np:hasPublicationInfo
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion
a
np:Assertion
.
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_provenance
a
np:Provenance
.
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion
{
miriam-gene:4853
a
ncit:C16612
.
lld:C0023530
a
ncit:C7057
.
dgn-gda:DGNc5f6ba65418f4279b1fe4262711d7b1a
sio:SIO_000628
miriam-gene:4853
,
lld:C0023530
;
a
sio:SIO_001121
.
}
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_provenance
{
dgn-np:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_assertion
dcterms:description
"[Disease-causing mutations of neutrophil elastase disrupt the interaction with N2N, impair proteolysis of N2N and Notch2, and interfere with Notch2 signaling, suggesting defective proteolysis of an inhibitory form of Notch as an explanation for the alternate switching of cell fates characteristic of hereditary 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:14673143
;
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:NP424371.RA9J8RoOMfE9-p2Y7abl6lcYdZodQlRB-l_sfE_S8loF0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:57+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" .
}