@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg
> .
@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 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:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_head
{
this:
np:hasAssertion
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion
;
np:hasProvenance
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance
;
np:hasPublicationInfo
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion
a
np:Assertion
.
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance
a
np:Provenance
.
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion
{
miriam-gene:4088
a
ncit:C16612
.
lld:C3151087
a
ncit:C7057
.
dgn-gda:DGN07643edf71b64791f18e57e58d3e95e3
sio:SIO_000628
miriam-gene:4088
,
lld:C3151087
;
a
sio:SIO_001122
.
}
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance
{
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion
dc:description
"[SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:21778426
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:00+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}