@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8
> .
@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:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_head
{
this:
np:hasAssertion
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_assertion
;
np:hasProvenance
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_provenance
;
np:hasPublicationInfo
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_assertion
a
np:Assertion
.
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_provenance
a
np:Provenance
.
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_assertion
{
miriam-gene:1301
a
ncit:C16612
.
lld:C0343284
a
ncit:C7057
.
dgn-gda:DGNa058e3de7738483fa4fae64a6d272941
sio:SIO_000628
miriam-gene:1301
,
lld:C0343284
;
a
sio:SIO_001121
.
}
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_provenance
{
dgn-np:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_assertion
dcterms:description
"[Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate.]. 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:12673280
;
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:NP796620.RAQ8lCRUff0Sd1J5Ln6ldKPzJo2n9cYmetzn4eCcJCNq8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:09+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" .
}