@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4
> .
@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:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_head
{
this:
np:hasAssertion
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_assertion
;
np:hasProvenance
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_provenance
;
np:hasPublicationInfo
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_assertion
a
np:Assertion
.
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_provenance
a
np:Provenance
.
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_assertion
{
miriam-gene:3845
a
ncit:C16612
.
lld:C0028326
a
ncit:C7057
.
dgn-gda:DGNb841dca953f7355df1b7609df99fa3c7
sio:SIO_000628
miriam-gene:3845
,
lld:C0028326
;
a
sio:SIO_001122
.
}
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_provenance
{
dgn-np:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_assertion
dcterms: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:NP71089.RA5aqnzirtRqzG3J6JFnEAeavEikWs9A0Iqy_Fz_33pM4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:34+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" .
}