@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY
> .
@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:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_head
{
this:
np:hasAssertion
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_assertion
;
np:hasProvenance
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_provenance
;
np:hasPublicationInfo
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_assertion
a
np:Assertion
.
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_provenance
a
np:Provenance
.
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_assertion
{
miriam-gene:6654
a
ncit:C16612
.
lld:C0028326
a
ncit:C7057
.
dgn-gda:DGN55e0478eeb8f135fd1d79c7caa973808
sio:SIO_000628
miriam-gene:6654
,
lld:C0028326
;
a
sio:SIO_001121
.
}
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_provenance
{
dgn-np:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_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: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:NP704777.RAC8_sQ76LnxV-Uu_XlNHRZ1oQtgJ7bxrpIAnxB32WzJY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:04+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" .
}