@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs
> .
@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/v3.0.0/void/
> .
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_head
{
this:
np:hasAssertion
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_assertion
;
np:hasProvenance
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_provenance
;
np:hasPublicationInfo
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_assertion
a
np:Assertion
.
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_provenance
a
np:Provenance
.
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_assertion
{
miriam-gene:1991
a
ncit:C16612
.
lld:C0340970
a
ncit:C7057
.
dgn-gda:DGN4627ce91d5703c628b7918ef581b7ef3
sio:SIO_000628
miriam-gene:1991
,
lld:C0340970
;
a
sio:SIO_001121
.
}
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_provenance
{
dgn-np:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_assertion
dcterms:description
"[The risk of infection is roughly inversely proportional to the circulating polymorphonuclear neutrophil count and is particularly high at counts below 0.2 G/l.When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia) and congenital forms that may either be isolated or part of a complex genetic disease.Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant.About half the forms of congenital neutropenia with no extra-hematopoietic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE) mutations.]. 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:21595885
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP372831.RA5OfldgnImVfJllC1xFKvIoY34BtQv2nAsJNsol3RCfs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:15+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}