@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc
> .
@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:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_head
{
this:
np:hasAssertion
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_assertion
;
np:hasProvenance
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_provenance
;
np:hasPublicationInfo
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_assertion
a
np:Assertion
.
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_provenance
a
np:Provenance
.
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C1333600
a
ncit:C7057
.
dgn-gda:DGN5113212b398cd54f09fe88f5b917dc23
sio:SIO_000628
miriam-gene:5979
,
lld:C1333600
;
a
sio:SIO_001121
.
}
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_provenance
{
dgn-np:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_assertion
dcterms:description
"[Patients with familial, multiple, or early onset phaeochromocytoma should be investigated for germline VHL and RET gene mutations as the molecular diagnosis of multisystem familial cancer syndromes enables appropriate counselling and screening to be provided.]. 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:8592333
;
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:NP1346948.RAPYvvXvvDBf_ev26OIF98HV7x7NoELvdLX1wJmFxXBUc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:56+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" .
}