@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o
> .
@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:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_head
{
this:
np:hasAssertion
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_assertion
;
np:hasProvenance
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_provenance
;
np:hasPublicationInfo
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_assertion
a
np:Assertion
.
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_provenance
a
np:Provenance
.
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_assertion
{
miriam-gene:1311
a
ncit:C16612
.
lld:C0026760
a
ncit:C7057
.
dgn-gda:DGN549bb5d35bfe0b5378950f970e89eb7d
sio:SIO_000628
miriam-gene:1311
,
lld:C0026760
;
a
sio:SIO_001121
.
}
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_provenance
{
dgn-np:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_assertion
dcterms:description
"[Mutations in the gene encoding cartilage oligomeric-matrix protein have been shown to result in several types of MED, whereas mutations in the gene encoding the alpha2 chain of type IX collagen (COL9A2) have so far been found only in two families with the Fairbank type of MED.]. 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:10364514
;
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:NP254676.RAi05Xl2M5LzY_xx1vZ9OuZCPo4XDCMKR2tq46c2-dN9o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:41+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" .
}