@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8
> .
@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:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_head
{
this:
np:hasAssertion
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_assertion
;
np:hasProvenance
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_provenance
;
np:hasPublicationInfo
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_assertion
a
np:Assertion
.
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_provenance
a
np:Provenance
.
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_assertion
{
miriam-gene:79947
a
ncit:C16612
.
lld:C0036439
a
ncit:C7057
.
dgn-gda:DGN0754fef3ff7e4899a33605d635bfc18e
sio:SIO_000628
miriam-gene:79947
,
lld:C0036439
;
a
sio:SIO_001121
.
}
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_provenance
{
dgn-np:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_assertion
dcterms:description
"[The orthopaedic manifestations of congenital pseudarthrosis of the tibia (CPT) and scoliosis, along with other skeletal defects including sphenoid wing dysplasia, rib penciling, and gracile bones have been classically associated with NF1.]. 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:18248783
;
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:NP814996.RAGSNaJUZp-KX8Lydf_2UXUBVxic5W2_P1Zo3l-xUTKH8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:19+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" .
}