@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0
> .
@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:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_head
{
this:
np:hasAssertion
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_assertion
;
np:hasProvenance
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_assertion
a
np:Assertion
.
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_provenance
a
np:Provenance
.
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_assertion
{
miriam-gene:1278
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGNcff4616cce6d02e08a02b4dd13c6afb7
sio:SIO_000628
miriam-gene:1278
,
lld:C0029434
;
a
sio:SIO_001121
.
}
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_provenance
{
dgn-np:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_assertion
dcterms:description
"[The majority of Osteogenesis Imperfecta (OI) cases are caused by mutations in one of the two genes, COL1A1 and COL1A2 encoding for the two chains that trimerize to form the procollagen 1 molecule.]. 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:24767406
;
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:NP1176753.RAomGIXj3gHBMb_OygMwxGyfyNqXkaxz7vya9vU4Qn4A0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:39+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" .
}