@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8
> .
@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:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_head
{
this:
np:hasAssertion
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_assertion
;
np:hasProvenance
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_provenance
;
np:hasPublicationInfo
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_assertion
a
np:Assertion
.
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_provenance
a
np:Provenance
.
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_assertion
{
miriam-gene:5176
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGN212ab0f0f76a87475f87a09e9bc44467
sio:SIO_000628
miriam-gene:5176
,
lld:C0029434
;
a
sio:SIO_001121
.
}
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_provenance
{
dgn-np:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_assertion
dcterms:description
"[The majority of remaining affected individuals have recessively inherited forms of OI with the causative variants in the more recently discovered genes CRTAP, FKBP10, LEPRE1,PLOD2, PPIB, SERPINF1, SERPINH1 and SP7, or in other yet undiscovered genes.]. 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:21829228
;
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:NP460736.RAw0Em1FcIJCMTukNMTmgj_qEAWntFhgm1zlKpQFNNin8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:34+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" .
}