@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I
> .
@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:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_head
{
this:
np:hasAssertion
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion
;
np:hasProvenance
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_provenance
;
np:hasPublicationInfo
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion
a
np:Assertion
.
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_provenance
a
np:Provenance
.
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C1833921
a
ncit:C7057
.
dgn-gda:DGNdd8d14ce667ac2aa25fc1df994ecae1d
sio:SIO_000628
miriam-gene:5979
,
lld:C1833921
;
a
sio:SIO_001121
.
}
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_provenance
{
dgn-np:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_assertion
dcterms:description
"[Germline mutations affecting one of five cysteines (Cys609, 611, 618, 620 and 634) located in the juxtamembrane domain of the RET receptor are responsible for the vast majority of two cancer-prone disorders, multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC).]. 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:9879991
;
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:NP1412279.RAcwosBoJVXYgoZ6-0IKND00-N-RxwHdwhZctazVdeh_I130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:27+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" .
}