@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY
> .
@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/v3.0.0/void/
> .
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_head
{
this:
np:hasAssertion
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_assertion
;
np:hasProvenance
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_provenance
;
np:hasPublicationInfo
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_assertion
a
np:Assertion
.
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_provenance
a
np:Provenance
.
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_assertion
{
miriam-gene:1299
a
ncit:C16612
.
lld:C0026760
a
ncit:C7057
.
dgn-gda:DGN48275e14e146143d7eca3a63d776235f
sio:SIO_000628
miriam-gene:1299
,
lld:C0026760
;
a
sio:SIO_001121
.
}
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_provenance
{
dgn-np:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP320737.RAlVlTpwhQZ4GtSQzfSpjbiq0gnMAzdH3coY6vhCjyRYY130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:44+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}