@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw
> .
@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:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_head
{
this:
np:hasAssertion
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_assertion
;
np:hasProvenance
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_provenance
;
np:hasPublicationInfo
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_assertion
a
np:Assertion
.
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_provenance
a
np:Provenance
.
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_assertion
{
miriam-gene:4148
a
ncit:C16612
.
lld:C0026760
a
ncit:C7057
.
dgn-gda:DGN923a9c1290b14df4e2ccdf9460b1d88f
sio:SIO_000628
miriam-gene:4148
,
lld:C0026760
;
a
sio:SIO_001121
.
}
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_provenance
{
dgn-np:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_assertion
dcterms:description
"[PSACH is almost exclusively caused by mutations in cartilage oligomeric matrix protein (COMP) whereas various forms of MED are caused by mutations in the genes encoding COMP, type IX collagen (COL9A1, COL9A2, and COL9A3), matrilin-3 (MATN3), and solute carrier member 26, member 2 gene (SLC26A2).]. 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:11968079
;
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:NP439341.RAOp7lIDb2mq3zTifv94bSecypMzg2DEj1YbYqQInQEfw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:20+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" .
}