@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8
> .
@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:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_head
{
this:
np:hasAssertion
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_assertion
;
np:hasProvenance
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_provenance
;
np:hasPublicationInfo
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_assertion
a
np:Assertion
.
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_provenance
a
np:Provenance
.
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0028326
a
ncit:C7057
.
dgn-gda:DGNa6f5f12893f2494ad066c0985c70a621
sio:SIO_000628
miriam-gene:4763
,
lld:C0028326
;
a
sio:SIO_001121
.
}
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_provenance
{
dgn-np:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_assertion
dcterms:description
"[Cardiovascular disease has been well described in patients with Noonan syndrome with PTPN11 mutations but the role of haploinsufficiency for neurofibromin in the heart development and function is not yet well understood.]. 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:21567923
;
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:NP893843.RAjr-7vdXi5PaFp-Fn1SB929fuYVl3SuiHtbYyOMlZLk8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:29+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" .
}