@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE
> .
@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:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_head
{
this:
np:hasAssertion
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_assertion
;
np:hasProvenance
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_provenance
;
np:hasPublicationInfo
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_assertion
a
np:Assertion
.
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_provenance
a
np:Provenance
.
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_assertion
{
miriam-gene:1302
a
ncit:C16612
.
lld:C0008925
a
ncit:C7057
.
dgn-gda:DGN926265642046da8f3fd8a80b346449a3
sio:SIO_000628
miriam-gene:1302
,
lld:C0008925
;
a
sio:SIO_001121
.
}
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_provenance
{
dgn-np:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_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:NP591866.RAlvfhSDCbEUMR8Nk-v7J2nb5dRVSvKUui_8lELc1taFE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:56+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" .
}