@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0
> .
@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 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:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_head
{
this:
np:hasAssertion
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_assertion
;
np:hasProvenance
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_provenance
;
np:hasPublicationInfo
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_assertion
a
np:Assertion
.
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_provenance
a
np:Provenance
.
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_assertion
{
miriam-gene:5894
a
ncit:C16612
.
lld:C0028326
a
ncit:C7057
.
dgn-gda:DGN901dbe393feac5c86b176eb7dfccd8c8
sio:SIO_000628
miriam-gene:5894
,
lld:C0028326
;
a
sio:SIO_001122
.
}
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_provenance
{
dgn-np:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_assertion
dc:description
"[After 2006, germline mutations in the KRAS, SOS1, and RAF1 genes were reported to cause Noonan syndrome (NS), in addition to the PTPN11 gene, and now we can find the etiology of disease in approximately 60-70% of NS cases.]. 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:19020799
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP82210.RAQzDous3dEaSmSIl_kMLwcKzhBHX_DUGtfdXPHVa6yd0130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:40+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}