@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg
> .
@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:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_head
{
this:
np:hasAssertion
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_assertion
;
np:hasProvenance
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_provenance
;
np:hasPublicationInfo
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_assertion
a
np:Assertion
.
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_provenance
a
np:Provenance
.
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_assertion
{
miriam-gene:1991
a
ncit:C16612
.
lld:C1853118
a
ncit:C7057
.
dgn-gda:DGN0c52aafbf8c5256c29bd5aac45d26e9c
sio:SIO_000628
miriam-gene:1991
,
lld:C1853118
;
a
sio:SIO_001121
.
}
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_provenance
{
dgn-np:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_assertion
dcterms:description
"[Mutations of the ELANE gene (the symbol recently replacing ELA2) are considered largely responsible for most cases of CN and SCN, but specific mutations are typically associated with one or the other.]. 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:20582973
;
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:NP190305.RABdXpQwUDmgQGHQDNfH5UM5EUoqZCS0qeJD9xAK7yOhg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:44+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" .
}