@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow
> .
@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:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_head
{
this:
np:hasAssertion
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_assertion
;
np:hasProvenance
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_provenance
;
np:hasPublicationInfo
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_assertion
a
np:Assertion
.
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_provenance
a
np:Provenance
.
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_assertion
{
miriam-gene:1280
a
ncit:C16612
.
lld:C0029410
a
ncit:C7057
.
dgn-gda:DGN7418553073d98885ec44cdfc25df7e6e
sio:SIO_000628
miriam-gene:1280
,
lld:C0029410
;
a
sio:SIO_001121
.
}
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_provenance
{
dgn-np:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_assertion
dcterms:description
"[The p.Gly1170Ser mutation of COL2A1 in the family described is responsible for pathology confined to the hip joint, which presents as isolated precocious hip OA, AVN of the femoral head, or Legg-Calvé-Perthes disease.]. 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:18512791
;
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:NP374257.RAOAbFJXBwKc-eNaOKQBf1-QOkUlbkiNqs8pSl4jqL5ow130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:39+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: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" .
}