@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA
> .
@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:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_head
{
this:
np:hasAssertion
dgn-np:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_assertion
;
np:hasProvenance
dgn-np:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_provenance
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np:hasPublicationInfo
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;
a
np:Nanopublication
.
dgn-np:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_assertion
a
np:Assertion
.
dgn-np:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_provenance
a
np:Provenance
.
dgn-np:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:6654
a
ncit:C16612
.
lld:C1275081
a
ncit:C7057
.
dgn-gda:DGNcbf1bca5715c978648b773c428661738
sio:SIO_000628
miriam-gene:6654
,
lld:C1275081
;
a
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.
}
dgn-np:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_provenance
{
dgn-np:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_assertion
dcterms:description
"[The dysregulation of the RAS/MAPK pathway appears to be a common molecular pathogenesis of these disorders: mutations in PTPN11, KRAS, and SOS1 have been identified in patients with NS, those in KRAS, BRAF, MAP2K1, and MAP2K2 in patients with CFC syndrome, and those in HRAS mutations in Costello syndrome patients.]. 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:20052757
;
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:NP792684.RAhDg_Df9EUUbChwR-jv6xeYB-JopcsSgMM2Tx3STr8wA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:06+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
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pav:authoredBy
<
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> , <
http://orcid.org/0000-0002-7534-7661
> , <
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> , <
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> ;
pav:createdBy
<
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> ;
pav:version
"v2.1.0.0" .
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"v2.1.0" .
}