@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_head
{
this:
np:hasAssertion
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_assertion
;
np:hasProvenance
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_provenance
;
np:hasPublicationInfo
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_assertion
a
np:Assertion
.
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_provenance
a
np:Provenance
.
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_assertion
{
miriam-gene:5781
a
ncit:C16612
.
lld:C0175704
a
ncit:C7057
.
dgn-gda:DGN23f0a15017a83304f076d6a851d2a539
sio:SIO_000628
miriam-gene:5781
,
lld:C0175704
;
a
sio:SIO_001121
.
}
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_provenance
{
dgn-np:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP656362.RAkhm0EerJVMjg5GSKBFYpP6y45HQDCTMMHAWGuA96JJg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:42+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}