@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0
> .
@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:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_head
{
this:
np:hasAssertion
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_assertion
;
np:hasProvenance
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_provenance
;
np:hasPublicationInfo
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_assertion
a
np:Assertion
.
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_provenance
a
np:Provenance
.
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_assertion
{
miriam-gene:5781
a
ncit:C16612
.
lld:C0280100
a
ncit:C7057
.
dgn-gda:DGNc2467aa87015c329d569d2f4b2853b66
sio:SIO_000628
miriam-gene:5781
,
lld:C0280100
;
a
sio:SIO_001121
.
}
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_provenance
{
dgn-np:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_assertion
dcterms:description
"[Given the association between NS and an increased risk of some malignancies, notably leukemia and probably some solid tumors including neuroblastoma (NB) and rhabdomyosarcoma (RMS), recent studies have reported that gain-of-function somatic mutations in PTPN11 occur in some hematological malignancies, especially de novo juvenile myelomonocytic leukemia (JMML) and in some solid tumors such as NB, although at a low frequency.]. 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:16518851
;
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:NP596676.RAat9RcjC9i92SyKqZuUExuTTSu1E3QNV7n0JeIERXfz0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:58+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" .
}