@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw
> .
@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:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_head
{
this:
np:hasAssertion
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_assertion
;
np:hasProvenance
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_provenance
;
np:hasPublicationInfo
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_assertion
a
np:Assertion
.
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_provenance
a
np:Provenance
.
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_assertion
{
miriam-gene:5781
a
ncit:C16612
.
lld:C0280100
a
ncit:C7057
.
dgn-gda:DGN1d99e3b29f889edc6a978152de922b20
sio:SIO_000628
miriam-gene:5781
,
lld:C0280100
;
a
sio:SIO_001121
.
}
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_provenance
{
dgn-np:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_assertion
dcterms:description
"[Germline mutations in PTPN11 cause Noonan and LEOPARD syndromes, whereas somatic PTPN11 mutations occur in several types of hematologic malignancies, most notably juvenile myelomonocytic leukemia and, more rarely, in solid tumors.]. 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:18286234
;
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:NP820589.RAPX9RF7oO8YbFVPJRNVvK8LdwrLLU2PbjaeciTFa0Eyw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:22+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" .
}