@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ
> .
@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:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_head
{
this:
np:hasAssertion
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion
;
np:hasProvenance
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion
a
np:Assertion
.
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_provenance
a
np:Provenance
.
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion
{
miriam-gene:861
a
ncit:C16612
.
lld:C0005818
a
ncit:C7057
.
dgn-gda:DGN9169d07e6e941e189f6c8f912f3ddbeb
sio:SIO_000628
miriam-gene:861
,
lld:C0005818
;
a
sio:SIO_001121
.
}
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_provenance
{
dgn-np:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_assertion
dcterms:description
"[Two hereditary human leukemia syndromes are severe congenital neutropenia (SCN), caused by mutations in the gene ELA2, encoding the protease neutrophil elastase, and familial platelet disorder with acute myelogenous leukemia (AML), caused by mutations in the gene AML1, encoding the transcription factor core-binding factor alpha (CBFalpha).]. 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:14594802
;
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:NP423440.RAWdq8zW3dB5-GEVdC3mXPPz_8JtDJpuQ2ArkphSjJ1CQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:11+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" .
}