@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o
> .
@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:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_head
{
this:
np:hasAssertion
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_assertion
;
np:hasProvenance
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_provenance
;
np:hasPublicationInfo
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_assertion
a
np:Assertion
.
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_provenance
a
np:Provenance
.
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_assertion
{
miriam-gene:8036
a
ncit:C16612
.
lld:C0028326
a
ncit:C7057
.
dgn-gda:DGNb5dfc3e17bb7f46de54e51a890632883
sio:SIO_000628
miriam-gene:8036
,
lld:C0028326
;
a
sio:SIO_001121
.
}
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_provenance
{
dgn-np:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_assertion
dcterms:description
"[Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1.]. 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:20461756
;
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:NP678142.RABl2T416Fup-tDZO3nEa7Zhs6CwKJNgkrQXZ6ol4Lb7o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:49+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" .
}