@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw
> .
@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:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_head
{
this:
np:hasAssertion
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_assertion
;
np:hasProvenance
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_provenance
;
np:hasPublicationInfo
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_assertion
a
np:Assertion
.
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_provenance
a
np:Provenance
.
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_assertion
{
miriam-gene:4089
a
ncit:C16612
.
lld:C0685938
a
ncit:C7057
.
dgn-gda:DGNb0a15c5e903964b812cc77f6afa47679
sio:SIO_000628
miriam-gene:4089
,
lld:C0685938
;
a
sio:SIO_001121
.
}
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_provenance
{
dgn-np:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_assertion
dcterms:description
"[The identification of SMAD4 mutations in HHT patients without prior diagnosis of JP has significant and immediate clinical implications, as these people are likely to be at risk of having JP-HHT with the associated increased risk of gastrointestinal cancer.]. 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:16613914
;
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:NP544839.RARUvR-cH3cV5yjA6V5qJDdJcW1O73naNNmNrPxl5e7Hw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:51+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" .
}